ChromosOmics - Database


Icon by Leon Liehr              

                                                             - REFERENCES -                                                                       

      0. Liehr et al. unpublished data
  1. Röthlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A.
     Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child.
    J Med Genet. 2001 Dec;38(12):885-888.
  2. Finelli P, Cavalli P, Giardino D, Gottardi G, Natacci F, Savasta S, Larizza L.
     FISH characterization of a supernumerary r(1)(::cen-->q22::q22-->sq21::) chromosome associated with multiple anomalies and bilateral cataracts.
    Am J Med Genet. 2001 Nov 22;104(2):157-164.
  3. Srebniak M, Noomen P, dos Santos P, Halley D, van de Graaf R, Govaerts L, Wouters C, Galjaard RJ, Van Opstal D.
     An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3)--difficulties in interpretation.
    Prenat Diagn. 2008 Oct;28(10):967-970.
  4. Starke H, Nietzel A, Weise A, Heller A, MrK, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, Von Eggeling F, Liehr T.
     Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
    Hum Genet. 2003 Dec;114(1):51-67.
  5. Starke H, Mitulla B, Nietzel A, Heller A, Beensen V, Grosswendt G, Claussen U, von Eggeling F, Liehr T.
    First patient with trisomy 21 accompanied by an additional der(4)(:p11 --> q11:) plus partial uniparental disomy 4p15-16.
     Am J Med Genet. 2003 Jan 1;116A(1):26-30.
  6. James RS, Temple IK, Dennis NR, Crolla JA.
    A search for uniparental disomy in carriers of supernumerary marker chromosomes.
     Eur J Hum Genet. 1995;3(1):21-26.
  7. Temple IK, James RS, Crolla JA, Sitch FL, Jacobs PA, Howell WM, Betts P, Baum JD, Shield JP.
     An imprinted gene(s) for diabetes?
    Nat Genet. 1995 Feb;9(2):110-112.
  8. Crolla JA, Long F, Rivera H, Dennis NR.
     FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases.
    Am J Med Genet. 1998 Feb 3;75(4):355-366.
  9. Eggermann T, Krause-Plonka I, Wollmann HA, Zerres K, Dai G, Meyer E, Bartsch O.
     Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face.
    Clin Dysmorphol. 2006 Jan;15(1):9-12.
  10. Combi R, Sala E, Villa N, Crosti F, Beccaria L, Cogliardi A, Tenchini ML, Dalprà L.
     Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russell syndrome.
    Clin Dysmorphol. 2008 Jan;17(1):35-39.
  11. Miyoshi O, Kondoh T, Taneda H, Otsuka K, Matsumoto T, Niikawa N.
     47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region.
    J Med Genet. 1999 Apr;36(4):326-329.
  12. Wakeling EL, Hitchins M, Stanier P, Monk D, Moore GE, Preece MA.
     Silver-Russell syndrome and ring chromosome 7.
    J Med Genet. 2000 May;37(5):380.
  13. Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E.
     Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
    Am J Med Genet. 2001 Mar 15;99(3):223-233.
  14. Blennow E, Anneren G, Bui TH, Berggren E, Asadi E, Nordenskjold M.
     Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).
    Am J Hum Genet. 1993 Aug;53(2):433-442.
  15. Blennow E, Nielsen KB, Telenius H, Carter NP, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjold M.
     Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization.
    Am J Med Genet. 1995 Jan 2;55(1):85-94.
  16. Schlegel M, Baumer A, Riegel M, Wiedemann U, Schinzel A.
     Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus.
    Prenat Diagn. 2002 May;22(5):418-421. Erratum in: Prenat Diagn 2002 Nov;22(11):1056.
  17. Von Eggeling F, Hoppe C, Bartz U, Starke H, Houge G, Claussen U, Ernst G, Kotzot D, Liehr T.
     Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11-->q11:)/46,XX karyotype.
    J Med Genet. 2002 Jul;39(7):519-521.
  18. Liehr T, Nietzel A, Rocchi M, Heller A, Starke H, Claussen U, v Eggeling F.
    Centromere-specific  multicolor-FISH (cenM-FISH) followed by analysis for uniparental disomy - a useful tool in prenatal diagnosis.
    In: Early prenatal diagnosis, fetal cells and DNA in the mother - present state and perpectives.
    The Karolinum Press, Prag, 2002, pp 293-300, ISBN: 80-246-0397-7.
  19. Mitter D, Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau-Holzmann UA, Prott EC, Wieczorek D, Gillessen-Kaesbach G.
     Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.
    Am J Med Genet A. 2006 Aug 11;140A(19):2039-2049.
  20. Werner M, Ben-Neriah Z, Silverstein S, Lerer I, Dagan Y, Abeliovich D.
     A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy.
    Am J Med Genet. 2004 Aug 30;129A(2):176-179.
  21. Bettio D, Rizzi N, Giardino D, Gurrieri F, Silvestri G, Grugni G, Larizza L.
     FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients.
    Am J Med Genet. 1997 Jan 10;68(1):99-104.
  22. Doco-Fenzy M, Crolla A, Azemar V, Motte J, Gruson N, Ulrich E, Adnet JJ.
    Supernumerary mar(15) without Prader Willi/ Angelman syndrome critical region (PWASCR) euchromatin, maternal heterodisomy and Prader Willi phenotype.
    Cytogenet Cell Genet. 1997, 56 (Abstractno. P12).
  23. Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H, Schinzel AA.
     Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
    J Med Genet. 1993 Sep;30(9):756-760.
  24. Bettio D, Giardino D, Rizzi N, Riva P, Volpi L, Barantani E, Tagliaferri A, Larizza L.
     Isochromosome 15q of maternal origin in a Prader-Willi patient with pituitary adenoma.
    Acta Genet Med Gemellol (Roma). 1996;45(1-2):213-216.
  25. Bettio D, Rizzi N, Giardino D, Grugni G, Briscioli V, Selicorni A, Carnevale F, Larizza L.
     FISH analysis in Prader-Willi and Angelman syndrome patients.
    Am J Med Genet. 1995 Mar 27;56(2):224-228.
  26. Cheng SD, Spinner NB, Zackai EH, Knoll JH.
     Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.
    Am J Hum Genet. 1994 Oct;55(4):753-759.
  27. Constantinou M, Kaluzewski B, Helszer Z, Zajac E, Nowacka J.
     Prenatal detection of maternal UPD15 in a new case with i(15p) by Timing Replication Test (TRT) and methylation analysis.
    J Appl Genet. 2003;44(2):209-218.
  28. Liehr T, Brude E, Gillessen-Kaesbach G, König R, Mrasek K, von Eggeling F, Starke H.
    Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15 - case report plus review of similar cases.
    Europ J Med Gen. 2005; 48:175-181.
  29. Borelina D, Esperante S, Gutnisky V, Ferreiro V, Ferrer M, Giliberto F, Frechtel G, Francipane L, Szijan I.
     Supernumerary marker 15 chromosome in a patient with Prader-Willi syndrome.
    Clin Genet. 2004 Mar;65(3):242-243.
  30. Wang YM, Chuang L, Wang BT, Kuo PL.
     Maternal uniparental disomy in a patient with Prader-Willi syndrome with an additional small inv dup(15) chromosome.
    J Formos Med Assoc. 2004;103(12):943-947.
  31. Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette MF, Mattei MG.
     Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect.
    Eur J Hum Genet. 1996;4(2):88-100.
  32. Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, Neumann A, Hansmann I, Claussen U.
    Maternal UPD 20 in a hyperactive child with severe growth retardation.
     Eur J Hum Genet. 1999 Jul;7(5):533-540.
  33. Bartels I, Schlueter G, Liehr T, Von Eggeling F, Starke H, Glaubitz R, Burfeind P.
    Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: Trisomy rescue due to marker chromosome formation.
     Cytogenet Genome Res., 2003;101(2):103-105.
  34. Turner CL, Bunyan DJ, Thomas NS, Mackay DJ, Jones HP, Waterham HR, Wanders RJ, Temple IK.
     Zellweger syndrome resulting from maternal isodisomy of chromosome 1.
    Am J Med Genet A. 2007 Sep 15;143A(18):2172-2177.
  35. Field LL, Tobias R, Robinson WP, Paisey R, Bain S.
     Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects.
    Am J Hum Genet. 1998 Oct;63(4):1216-1220.
  36. Pulkkinen L, Bullrich F, Czarnecki P, Weiss L, Uitto J.
     Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.
    Am J Hum Genet. 1997 Sep;61(3):611-619.
  37. Bernasconi F, Karagüzel A, Celep F, Keser I, Lüleci G, Dutly F, Schinzel AA.
     Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)
    Am J Hum Genet. 1996 Nov;59(5):1114-1118.
  38. Voss R, Ben-Simon E, Avital A, Godfrey S, Zlotogora J, Dagan J, Tikochinski Y, Hillel J.
     Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?
    Am J Hum Genet. 1989 Sep;45(3):373-380.
  39. Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL.
     Uniparental disomy as a mechanism for human genetic disease.
    Am J Hum Genet. 1988 Feb;42(2):217-226.
  40. Hubbard VS, Davis PB, di Sant'Agnese PA, Gorden P, Schwartz RH.
     Isolated growth hormone deficiency and cystic fibrosis: a report of two cases.
    Am J Dis Child. 1980 Mar;134(3):317-319.
  41. Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR.
     Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
    Am J Hum Genet. 1992 Apr;50(4):690-699.
  42. Eggerding FA, Schonberg SA, Chehab FF, Norton ME, Cox VA, Epstein CJ.
     Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.
    Am J Hum Genet. 1994 Aug;55(2):253-265.
  43. Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK.
     Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.
    J Med Genet. 1995 Nov;32(11):871-875.
  44. Spotila LD, Sereda L, Prockop DJ.
     Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus.
    Am J Hum Genet. 1992 Dec;51(6):1396-1405.
  45. Dufourcq-Lagelouse R, Lambert N, Duval M, Viot G, Vilmer E, Fischer A, Prieur M, de Saint Basile G.
     Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.
    Eur J Hum Genet. 1999 Sep;7(6):633-637.
  46. Lebo RV, Shapiro LR, Fenerci EY, Hoover JM, Chuang JL, Chuang DT, Kronn DF.
     Rare etiology of autosomal recessive disease in a child with noncarrier parents.
    Am J Hum Genet. 2000 Sep;67(3):750-754.
  47. Field LL, Tobias R, Robinson WP, Paisey R, Bain S.
     Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects.
    Am J Hum Genet. 1998 Oct;63(4):1216-1220.
  48. Wassink TH, Losh M, Frantz RS, Vieland VJ, Goedken R, Piven J, Sheffield VC.
     A case of autism and uniparental disomy of chromosome 1.
    Hum Genet. 2005 Jul;117(2-3):200-206.
  49. Abu-Amero SN, Ali Z, Abu-Amero KK, Stanier P, Moore GE.
     An analysis of common isodisomic regions in five mUPD 16 probands.
    J Med Genet. 1999 Mar;36(3):204-207.
  50. Vaughan J, Ali Z, Bower S, Bennett P, Chard T, Moore G.
     Human maternal uniparental disomy for chromosome 16 and fetal development.
    Prenat Diagn. 1994 Aug;14(8):751-756.
  51. Whiteford ML, Coutts J, al-Roomi L, Mather A, Lowther G, Cooke A, Vaughan JI, Moore GE, Tolmie JL.
     Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease.
    Prenat Diagn. 1995 Jun;15(6):579-584.
  52. Moore GE, Ali Z, Khan RU, Blunt S, Bennett PR, Vaughan JI.
     The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babies.
    Am J Obstet Gynecol. 1997 Feb;176(2):294-299.
  53. Kalousek DK, Langlois S, Barrett I, Yam I, Wilson DR, Howard-Peebles PN, Johnson MP, Giorgiutti E.
     Uniparental disomy for chromosome 16 in humans.
    Am J Hum Genet. 1993 Jan;52(1):8-16.
  54. Heidemann S, Plendl H, Vater I, Gesk S, Exeler-Telker JR, Grote W, Siebert R, Caliebe A.
     Maternal uniparental disomy 15 in a fetus resulting from a balanced familial translocation t(2;15)(p11;q11.2).
    Prenat Diagn. 2010 Jan 8;30(2):183-185.
  55. Calounova G, Novotna D, Simandlova M, Havlovicova M, Zumrová A, Kocarek E, Sedlacek Z.
     Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.
    Neuro Endocrinol Lett. 2006 Oct;27(5):579-585.
  56. Schneider AS, Bischoff FZ, McCaskill C, Coady ML, Stopfer JE, Shaffer LG.
     Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16.
    Am J Med Genet. 1996 Dec 11;66(2):204-208.
  57. Garber A, Carlson D, Schreck R, Fischel-Ghodsian N, Hsu WT, Oeztas S, Pepkowitz S, Graham JM Jr.
     Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16.
    Prenat Diagn. 1994 Apr;14(4):257-266.
  58. Albrecht B, Mergenthaler S, Eggermann K, Zerres K, Passarge E, Eggermann T.
     Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).
    J Med Genet. 2001 Mar;38(3):214.
  59. Alvarez A, del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Rivera T, Solanellas J, Moreno F.
     Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients.
    J Med Genet. 2003 Aug;40(8):636-639.
  60. Shaffer LG, McCaskill C, Egli CA, Baker JC, Johnston KM.
     Is there an abnormal phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes?
    Am J Hum Genet. 1997 Aug;61(2):461-462.
  61. Mattes J, Whitehead B, Liehr T, Wilkinson I, Bear J, Fagan K, Craven P, Bennetts B, Edwards M.
     Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14.
    Am J Med Genet A. 2007 Aug 13;143A(18):2165-2171.
  62. Roberts S, Maggouta F, Thompson R, Price S, Thomas S.
     A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction.
    J Med Genet. 2002 Feb;39(2):E9.
  63. Thompson RJ, Bolton PF.
     Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.
    J Autism Dev Disord. 2003 Apr;33(2):171-176.
  64. Benlian P, Foubert L, Gagné E, Bernard L, De Gennes JL, Langlois S, Robinson W, Hayden M.
     Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.
    Am J Hum Genet. 1996 Aug;59(2):431-436.
  65. Gelb BD, Willner JP, Dunn TM, Kardon NB, Verloes A, Poncin J, Desnick RJ.
     Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.
    Am J Hum Genet. 1998 Apr;62(4):848-854.
  66. Takizawa Y, Pulkkinen L, Chao SC, Nakajima H, Nakano Y, Shimizu H, Uitto J.
     Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.
    J Invest Dermatol. 2000 Aug;115(2):307-311.
  67. Miura Y, Hiura M, Torigoe K, Numata O, Kuwahara A, Matsunaga M, Hasegawa S, Boku N, Ino H, Mardy S, Endo F, Matsuda I, Indo Y.
     Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.
    Hum Genet. 2000 Sep;107(3):205-209.
  68. Rivolta C, Berson EL, Dryja TP.
     Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.
    Arch Ophthalmol. 2002 Nov;120(11):1566-1571.
  69. Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A.
     Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.
    Am J Hum Genet. 2002 Jan;70(1):224-229.
  70. Fassihi H, Wessagowit V, Ashton GH, Moss C, Ward R, Denyer J, Mellerio JE, McGrath JA.
     Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.
    Clin Exp Dermatol. 2005 Jan;30(1):71-74.
  71. Chen H, Young R, Mu X, Nandi K, Miao S, Prouty L, Ursin S, Gonzalez J, Yanamandra K.
     Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility.
    Am J Med Genet. 1999 Jan 29;82(3):215-218.
  72. Abecasis GR, Burt RA, Hall D, Bochum S, Doheny KF, Lundy SL, Torrington M, Roos JL, Gogos JA, Karayiorgou M.
     Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1.
    Am J Hum Genet. 2004 Mar;74(3):403-417.
  73. Zeng WQ, Gao H, Brueton L, Hutchin T, Gray G, Chakrapani A, Olpin S, Shih VE.
     Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.
    Am J Med Genet A. 2006 May 1;140(9):1004-1009.
  74. Fingert JH, Eliason DA, Phillips NC, Lotery AJ, Sheffield VC, Stone EM.
     Case of Stargardt disease caused by uniparental isodisomy.
    Arch Ophthalmol. 2006 May;124(5):744-745.
  75. Benko WS, Hruska KS, Nagan N, Goker-Alpan O, Hart PS, Schiffmann R, Sidransky E.
     Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.
    Neurology. 2008 Mar 18;70(12):976-978.
  76. Al-Jasmi F, Abdelhaleem M, Stockley T, Lee KS, Clarke JT.
     Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis.
    J Pediatr Hematol Oncol. 2008 Aug;30(8):621-624.
  77. Antonarakis SE, Blouin JL, Maher J, Avramopoulos D, Thomas G, Talbot CC Jr.
     Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.
    Am J Hum Genet. 1993 Jun;52(6):1145-1152.
  78. Balmer D, Baumer A, Röthlisberger B, Schinzel A.
     Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta.
    Prenat Diagn. 1999 Nov;19(11):1061-1064.
  79. Bán Z, Nagy B, Papp C, Beke A, Tóth-Pál E, Papp Z.
     Recurrent trisomy 21 and uniparental disomy 21 in a family.
    Fetal Diagn Ther. 2003 Nov-Dec;18(6):454-458.
  80. Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE.
     Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.
    Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10282-10286.
  81. Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE, Mikkelsen M.
     "Compensatory" uniparental disomy of chromosome 21 in two cases.
    J Med Genet. 1994 Jul;31(7):534-540.
  82. Bassett LL, Michaelis RC, Geiger MH, Tarleton J, Moore CL, Knops JF, Carroll AJ, Proud VK.
     Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation.
    Am J Med Genet. 2001 Apr 15;100(1):85-86.
  83. Bein G, Driller B, Schürmann M, Schneider PM, Kirchner H.
     Pseudo-exclusion from paternity due to maternal uniparental disomy 16.
    Int J Legal Med. 1998;111(6):328-330.
  84. Beldjord C, Henry I, Bennani C, Vanhaeke D, Labie D.
     Uniparental disomy: a novel mechanism for thalassemia major.
    Blood. 1992 Jul 1;80(1):287-289.
  85. Kalousek DK, Howard-Peebles PN, Olson SB, Barrett IJ, Dorfmann A, Black SH, Schulman JD, Wilson RD.
    Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism.
     Prenat Diagn. 1991 Oct;11(10):743-750.
  86. Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK.
    Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.
     Am J Hum Genet. 1997 Apr;60(4):917-927.
  87. Dworniczak B, Koppers B, Kurlemann G, Holzgreve W, Horst J, Miny P.
    Uniparental disomy with normal phenotype.
     Lancet. 1992 Nov 21;340(8830):1285.
  88. Sutcliffe MJ, Mueller OT, Gallardo LA, Papenhausen PR, Tedesco TA.
    Maternal isodisomy in a normal 46,XX following trisomic conception.
    Am J Hum Genet 53:A1464.
  89. O'Riordan S, Greenough A, Moore GE, Bennett P, Nicolaides KH.
    Case report: uniparental disomy 16 in association with congenital heart disease.
     Prenat Diagn. 1996 Oct;16(10):963-965.
  90. Woo V, Bridge PJ, Bamforth JS.
    Maternal uniparental heterodisomy for chromosome 16: case report.
     Am J Med Genet. 1997 Jun 27;70(4):387-390.
  91. Lindor NM, Jalal SM, Thibodeau SN, Bonde D, Sauser KL, Karnes PS.
     Mosaic trisomy 16 in a thriving infant: maternal heterodisomy for chromosome 16.
    Clin Genet. 1993 Oct;44(4):185-189.
  92. Davies GAL, Gad IK, Diamond T, Papenhausen P.
    Discordant maternal serum amniotic fluid alpha-fetoprotein results in mosaic trisomy 16 pregnancies.
    Am J Hum Genet 1995; 57:A278.
  93. Paulyson KJ, Sherer DM, Christian SL, Lewis KM, Ledbetter DH, Salafia CM, Meck JM.
    Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal origin.
     Prenat Diagn. 1996 Nov;16(11):1021-1026.
  94. Hsu LY, Yu MT, Neu RL, Van Dyke DL, Benn PA, Bradshaw CL, Shaffer LG, Higgins RR, Khodr GS, Morton CC, Wang H, Brothman AR, Chadwick D, Disteche CM, Jenkins LS, Kalousek DK, Pantzar TJ, Wyatt P.
    Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations.
     Prenat Diagn. 1997 Mar;17(3):201-242.
  95. Berends MJ, Hordijk R, Scheffer H, Oosterwijk JC, Halley DJ, Sorgedrager N.
    Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype.
     Am J Med Genet. 1999 May 7;84(1):76-79.
  96. Berend SA, Feldman GL, McCaskill C, Czarnecki P, Van Dyke DL, Shaffer LG.
    Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy.
     Am J Med Genet. 1999 Jan 29;82(3):275-281.
  97. Berend SA, Horwitz J, McCaskill C, Shaffer LG.
     Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes.
    Am J Hum Genet. 2000 Jun;66(6):1787-1793.
  98. Berend SA, Bejjani BA, McCaskill C, Shaffer LG.
    Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.
     Am J Med Genet. 2002 Sep 1;111(4):362-365.
  99. Walter CA, Shaffer LG, Kaye CI, Huff RW, Ghidoni PD, McCaskill C, McFarland MB, Moore CM.
    Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11).
     Am J Med Genet. 1996 Nov 11;65(4):259-265.
  100. Bernard LE, Peñaherrera MS, Van Allen MI, Wang MS, Yong SL, Gareis F, Langlois S, Robinson WP.
    Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.
     Am J Med Genet. 1999 Nov 26;87(3):230-236.
  101. Lindenbaum RH, Woods CG, Norbury CG, Powey S, Rysteck G.
    An individual with maternal disomy of chromosome 4 and iso(4p) and iso(4q).
    Am J Hum Genet 1991; 49 suppl; A285.
  102. Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB.
     Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies.
    Am J Med Genet A. 2004 Jan 30;124A(3):274-279.
  103. Bilimoria KY, Rothenberg JM.
    Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus.
     Am J Med Genet A. 2003 Apr 1;118A(1):60-63.
  104. Binder G, Seidel AK, Weber K, Haase M, Wollmann HA, Ranke MB, Eggermann T.
    IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus.
     J Clin Endocrinol Metab. 2006 Nov;91(11):4709-4712.
  105. Binder G, Seidel AK, Martin DD, Schweizer R, Schwarze CP, Wollmann HA, Eggermann T, Ranke MB.
    The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration.
     J Clin Endocrinol Metab. 2008 Apr;93(4):1402-1407.
  106. Bischoff FZ, Feldman GL, McCaskill C, Subramanian S, Hughes MR, Shaffer LG.
     Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome.
    Hum Mol Genet. 1995 Mar;4(3):395-399.
  107. Bischoff FZ, Zenger-Hain J, Moses D, Van Dyke DL, Shaffer LG.
    Mosaicism for trisomy 12: four cases with varying outcomes.
     Prenat Diagn. 1995 Nov;15(11):1017-1026.
  108. Björck EJ, Anderlid BM, Blennow E.
     Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q).
    Am J Med Genet. 1999 Nov 5;87(1):49-52.
  109. Blouin JL, Avramopoulos D, Pangalos C, Antonarakis SE.
     Normal phenotype with paternal uniparental isodisomy for chromosome 21.
    Am J Hum Genet. 1993 Nov;53(5):1074-1078.
  110. Boer H, Holland A, Whittington J, Butler J, Webb T, Clarke D.
     Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy.
    Lancet. 2002 Jan 12;359(9301):135-136.
  111. Bonet Alcaina M, García-Algar O, Herrero Pérez S, Mombiela Vidal R, Pérez Jurado LA, Mur Sierra A.
     [Transient neonatal diabetes associated with uniparental isodisomy of chromosome 6]
    An Esp Pediatr. 2002 Jun;56(6):567-570. Spanish.
  112. Borelina D, Engel N, Esperante S, Ferreiro V, Ferrer M, Torrado M, Goldschmidt E, Francipane L, Szijan I.
    Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes.
     J Biochem Mol Biol. 2004 Sep 30;37(5):522-536.
  113. Bottani A, Robinson WP, DeLozier-Blanchet CD, Engel E, Morris MA, Schmitt B, Thun-Hohenstein L, Schinzel A.
    Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?
     Am J Med Genet. 1994 May 15;51(1):35-40.
  114. Bruce S, Leinonen R, Lindgren CM, Kivinen K, Dahlman-Wright K, Lipsanen-Nyman M, Hannula-Jouppi K, Kere J.
    Global analysis of uniparental disomy using high density genotyping arrays.
     J Med Genet. 2005 Nov;42(11):847-851.
  115. Bruce S, Hannula-Jouppi K, Lindgren CM, Lipsanen-Nyman M, Kere J.
     Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR.
    Clin Chem. 2008 Mar;54(3):491-499.
  116. Hannula K, Lipsanen-Nyman M, Kontiokari T, Kere J.
     A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.
    Am J Hum Genet. 2001 Jan;68(1):247-253.
  117. Hannula K, Lipsanen-Nyman M, Kristo P, Kaitila I, Simola KO, Lenko HL, Tapanainen P, Holmberg C, Kere J.
    Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause.
     Pediatrics. 2002 Mar;109(3):441-448.
  118. Höglund P, Holmberg C, de la Chapelle A, Kere J.
     Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.
    Am J Hum Genet. 1994 Oct;55(4):747-752.
  119. Bruce S, Hannula-Jouppi K, Peltonen J, Kere J, Lipsanen-Nyman M.
     Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies.
    J Clin Endocrinol Metab. 2009 Feb;94(2):579-587.
  120. Bruyère H, Rupps R, Kuchinka BD, Friedman JM, Robinson WP.
     Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line.
    Am J Med Genet. 2000 Sep 4;94(1):35-41.
  121. Bullman H, Lever M, Robinson DO, Mackay DJ, Holder SE, Wakeling EL.
     Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome.
    J Med Genet. 2008 Jun;45(6):396-399.
  122. Butler MG, Hedges LK, Rogan PK, Seip JR, Cassidy SB, Moeschler JB.
    Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence?
     Am J Med Genet. 1997 Oct 3;72(1):111-114.
  123. Ferrante E, Brinchi V, Marioni P, Galletti F.
     [Prader-Labhart-Willi syndrome with 47,XXX karyotype. Etio-pathogenetic considerations]
    Minerva Pediatr. 1986 Apr 30;38(8):271-274. Italian.
  124. Trent RJ, Volpato F, Smith A, Lindeman R, Wong MK, Warne G, Haan E.
    Molecular and cytogenetic studies of the Prader-Willi syndrome.
     J Med Genet. 1991 Oct;28(10):649-654.
  125. Cassidy SB, Lai LW, Erickson RP, Magnuson L, Thomas E, Gendron R, Herrmann J.
    Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.
     Am J Hum Genet. 1992 Oct;51(4):701-708.
  126. Cassidy SB, Forsythe M, Heeger S, Nicholls RD, Schork N, Benn P, Schwartz S.
    Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15.
     Am J Med Genet. 1997 Feb 11;68(4):433-440.
  127. Castiglia D, Castori M, Pisaneschi E, Sommi M, Covaciu C, Zambruno G, Fischer J, Magnani C.
    Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis.
     Clin Genet. 2009 Oct;76(4):392-397.
  128. Bakker B, Bikker H, Hennekam RC, Lommen EJ, Schipper MG, Vulsma T, de Vijlder JJ.
     Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism.
    J Clin Endocrinol Metab. 2001 Mar;86(3):1164-1168.
  129. Catchpoole D, Lam WW, Valler D, Temple IK, Joyce JA, Reik W, Schofield PN, Maher ER.
     Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.
    J Med Genet. 1997 May;34(5):353-359.
  130. Cavé H, Polak M, Drunat S, Denamur E, Czernichow P.
    Refinement of the 6q chromosomal region implicated in transient neonatal diabetes.
     Diabetes. 2000 Jan;49(1):108-113.
  131. Chan CT, Clayton-Smith J, Cheng XJ, Buxton J, Webb T, Pembrey ME, Malcolm S.
    Molecular mechanisms in Angelman syndrome: a survey of 93 patients.
     J Med Genet. 1993 Nov;30(11):895-902.
  132. Chan Y, Silverman N, Jackson L, Wapner R, Wallerstein R.
    Maternal uniparental disomy of chromosome 16 and body stalk anomaly.
     Am J Med Genet. 2000 Oct 2;94(4):284-286.
  133. Chávez B, Valdez E, Vilchis F.
    Uniparental disomy in steroid 5alpha-reductase 2 deficiency.
     J Clin Endocrinol Metab. 2000 Sep;85(9):3147-3150.
  134. Chevalier-Porst F, Rolland MO, Cochat P, Bozon D.
     Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1.
    Am J Med Genet A. 2005 Jan 1;132A(1):80-83.
  135. Chou YY, Chen CC, Kuo PL, Tsai WH, Lin SJ.
    Russell-Silver syndrome: molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping.
     J Formos Med Assoc. 2004 Oct;103(10):797-802.
  136. Christian SL, Rich BH, Loebl C, Israel J, Vasa R, Kittikamron K, Spiro R, Rosenfield R, Ledbetter DH.
    Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus.
     J Pediatr. 1999 Jan;134(1):42-46.
  137. Chu C, Schwartz S, McPherson E.
    Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype.
     Am J Med Genet A. 2004 Jun 1;127A(2):167-171.
  138. Cockwell AE, Baker SJ, Connarty M, Moore IE, Crolla JA.
    Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect.
     Am J Med Genet A. 2006 Mar 15;140(6):624-627.
  139. Cooper WN, Curley R, Macdonald F, Maher ER.
    Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome.
     Genomics. 2007 May;89(5):613-617.
  140. Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER.
    Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
     Eur J Hum Genet. 2005 Sep;13(9):1025-1032.
  141. Cotter PD, Kaffe S, McCurdy LD, Jhaveri M, Willner JP, Hirschhorn K.
    Paternal uniparental disomy for chromosome 14: a case report and review.
     Am J Med Genet. 1997 May 2;70(1):74-79.
  142. Coveler KJ, Yang SP, Sutton R, Milstein JM, Wu YQ, Bois KD, Beischel LS, Johnson JP, Shaffer LG.
     A case of segmental paternal isodisomy of chromosome 14.
    Hum Genet. 2002 Mar;110(3):251-256.
  143. Coviello DA, Panucci E, Mantero MM, Perfumo C, Guelfi M, Borrone C, Dagna Bricarelli F.
    Maternal uniparental disomy for chromosome 14.
     Acta Genet Med Gemellol (Roma). 1996;45(1-2):169-172.
  144. Cox H, Bullman H, Temple IK.
     Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome.
    Am J Med Genet A. 2004 May 15;127A(1):21-25.
  145. Dan B, Boyd SG, Christiaens F, Courtens W, Van Maldergem L, Kahn A.
    Atypical features in Angelman syndrome due to imprinting defect of uniparental disomy of chromosome 15.
     Neuropediatrics. 2000 Apr;31(2):109-110.
  146. Damaj L, le Lorch M, Verkarre V, Werl C, Hubert L, Nihoul-Fékété C, Aigrain Y, de Keyzer Y, Romana SP, Bellanne-Chantelot C, de Lonlay P, Jaubert F.
    Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.
     J Clin Endocrinol Metab. 2008 Dec;93(12):4941-4947.
  147. Das S, Lese CM, Song M, Jensen JL, Wells LA, Barnoski BL, Roseberry JA, Camacho JM, Ledbetter DH, Schnur RE.
    Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.
     Am J Hum Genet. 2000 Dec;67(6):1586-1591.
  148. Abramowicz MJ, Andrien M, Dupont E, Dorchy H, Parma J, Duprez L, Ledley FD, Courtens W, Vamos E.
    Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.
     J Clin Invest. 1994 Jul;94(1):418-421.
  149. de Pater JM, Schuring-Blom GH, van den Bogaard R, van der Sijs-Bos CJ, Christiaens GC, Stoutenbeek P, Leschot NJ.
     Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22.
    Prenat Diagn. 1997 Jan;17(1):81-86.
  150. Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C.
    Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
     Biol Psychiatry. 2009 Aug 15;66(4):349-359.
  151. Devriendt K, Matthijs G, Claes S, Legius E, Proesmans W, Cassiman JJ, Fryns JP.
    Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.
     J Med Genet. 1997 Apr;34(4):318-322.
  152. Diatloff-Zito C, Nicole A, Marcelin G, Labit H, Marquis E, Bellanné-Chantelot C, Robert JJ.
    Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region.
     J Med Genet. 2007 Jan;44(1):31-37.
  153. Dorchy H.
     [Neonatal diabetes mellitus caused by congenital absence of beta cells associated with methylmalonic acidemia due to uniparental disomy of chromosome 6]
    Arch Pediatr. 1995 Feb;2(2):188.
  154. Dupont JM, Cuisset L, Cartigny M, Le Tessier D, Vasseur C, Rabineau D, Jeanpierre M.
    Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient.
     Am J Med Genet. 2002 Sep 1;111(4):405-408.
  155. Eggermann T, Marg W, Mergenthaler S, Eggermann K, Schemmel V, Stoffers U, Zerres K, Spranger S.
    Origin of uniparental disomy 6: presentation of a new case and review on the literature.
     Ann Genet. 2001 Jan-Mar;44(1):41-45.
  156. Bittencourt MC, Morris MA, Chabod J, Gos A, Lamy B, Fellmann F, Antonarakis SE, Plouvier E, Herve P, Tiberghien P.
     Fortuitous detection of uniparental isodisomy of chromosome 6.
    J Med Genet. 1997 Jan;34(1):77-78.
  157. Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Hebisch G, Schinzel A.
    Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.
     Am J Med Genet. 1998 Oct 12;79(5):347-353.
  158. Eggermann T, Mergenthaler S, Eggermann K, Albers A, Linnemann K, Fusch C, Ranke MB, Wollmann HA.
    Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.
     J Med Genet. 2001 Feb;38(2):86-89.
  159. Eggermann T, Meyer E, Ranke MB, Holder M, Spranger S, Zerres K, Wollmann HA.
     Diagnostic proceeding in Silver-Russell syndrome.
    Mol Diagn. 2005;9(4):205-209.
  160. Eggermann T, Schönherr N, Eggermann K, Buiting K, Ranke MB, Wollmann HA, Binder G.
     Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome.
    Clin Genet. 2008 Jan;73(1):79-84.
  161. Eggermann T, Schönherr N, Jäger S, Spaich C, Ranke MB, Wollmann HA, Binder G.
    Segmental maternal UPD(7q) in Silver-Russell syndrome.
     Clin Genet. 2008 Nov;74(5):486-489.
  162. Bonaglia MC, Giorda R, Beri S, Bigoni S, Sensi A, Baroncini A, Capucci A, De Agostini C, Gwilliam R, Deloukas P, Dunham I, Zuffardi O.
    Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.
     Eur J Hum Genet. 2009 Apr;17(4):426-433.
  163. Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB.
    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
     Hum Mol Genet. 2010; 19: 1263-1275.
  164. Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schönherr N.
    Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation.
     Pediatrics. 2009 May;123(5):e929-e931.
  165. Falk MJ, Curtis CA, Bass NE, Zinn AB, Schwartz S.
    Maternal uniparental disomy chromosome 14: case report and literature review.
     Pediatr Neurol. 2005 Feb;32(2):116-120.
  166. Fares F, David M, Lerner A, Diukman R, Lerer I, Abeliovich D, Rivlin J.
    Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth.
     Am J Med Genet A. 2006 Aug 15;140(16):1785-1788.
  167. Fassihi H, Lu L, Wessagowit V, Ozoemena LC, Jones CA, Dopping-Hepenstal PJ, Foster L, Atherton DJ, Mellerio JE, McGrath JA.
    Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
     J Invest Dermatol. 2006 Sep;126(9):2039-2043.
  168. Pan Y, McCaskill CD, Harrison GM, Hicks J, Casey B, Shaffer LG, Craigen WJ.
    Paternal uniparental disomy of chromosome 7 associated with complete situs inversus and immotile cilia.
    Am J Hum Genet 59:547.
  169. Ferrer-Bolufer I, Dalmau J, Quiroga R, Oltra S, Orellana C, Monfort S, Roselló M, De La Osa A, Martinez F.
    Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.
     J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S349-53.
  170. Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J, Scherer SW, Hannula-Jouppi K.
     Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.
    Am J Hum Genet. 2006 Nov;79(5):965-972.
  171. Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M.
     Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
    J Med Genet. 2001 Apr;38(4):273-278.
  172. Fokstuen S, Ginsburg C, Zachmann M, Schinzel A.
    Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty.
     J Pediatr. 1999 Jun;134(6):689-695.
  173. Curtis L, Antonelli E, Vial Y, Rimensberger P, Le Merrer M, Hinard C, Bottani A, Fokstuen S.
     Prenatal diagnostic indicators of paternal uniparental disomy 14.
    Prenat Diagn. 2006 Aug;26(8):662-666.
  174. Barton DE, McQuaid S, Stallings R, Griffin E, Geraghty M.
    Further evidence for an emerging maternal uniparental disomy. analysis of a phenotypically abnormal de novo Robertsonian translocation t(13;14) carrier.
    Am J Hum Genet 1996:59(Suppl): 698.
  175. Desilets VA, Yong SL, Kalousek DK, Pantzer TJ, Kwong LC, Siemens C, et al.
    Maternal uniparental disomy for chromosome 14.
    Am J Hum Genet 1997:61(Suppl): 691.
  176. Morichon-Delvallez N, Seques B, Pinson MP, Bérubé D, Dommerques M, Aubry MC, et al.
    Maternal uniparental disomy for chromosome 14 by secondary nondisjunction of an initial trisomy.
    Am J Hum Genet 1994;55(Suppl):2224.
  177. Link L, McMilin K, Popovich B, Magenis RE.
    Maternal uniparental disomy for chromosome 14.
    Am J Hum Genet 1996;59(Suppl):687.
  178. Towner DR, Shaffer LG, Yang SP, Walgenbach DD.
     Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction.
    Prenat Diagn. 2001 May;21(5):395-398.
  179. Harrison KJ, Allingham-Hawkins DJ, Hummel J, Meschino WS, Cox DW, Costa TM, et al.
    Risk of uniparental disomy in Robertsonian translocation carriers: identification of UPD14 in a small cohort.
    Am J Hum Genet 1998;63(Suppl):51.
  180. Font-Montgomery E, Stone KM, Weaver DD, Vance GH, Das S, Thurston VC.
    Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7.
     Birth Defects Res A Clin Mol Teratol. 2005 Aug;73(8):577-582.
  181. Fremeaux-Bacchi V, Sanlaville D, Menouer S, Blouin J, Dragon-Durey MA, Fischbach M, Vekemans M, Fridman WH.
    Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy.
     Am J Kidney Dis. 2007 Feb;49(2):323-329.
  182. Freeman SB, May KM, Pettay D, Fernhoff PM, Hassold TJ.
     Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.
    Am J Med Genet. 1993 Mar 1;45(5):625-630.
  183. Fritz B, Aslan M, Kalscheuer V, Ramsing M, Saar K, Fuchs B, Rehder H.
    Low incidence of UPD in spontaneous abortions beyond the 5th gestational week.
     Eur J Hum Genet. 2001 Dec;9(12):910-916.
  184. Curtis L, Antonelli E, Vial Y, Rimensberger P, Le Merrer M, Hinard C, Bottani A, Fokstuen S.
    Prenatal diagnostic indicators of paternal uniparental disomy 14.
     Prenat Diagn. 2006 Aug;26(8):662-666.
  185. Fridman C, Koiffmann CP.
    Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome.
     Am J Med Genet. 2000 Sep 18;94(3):249-253.
  186. Garber A, Carlson D, Schreck R, Fischel-Ghodsian N, Hsu WT, Oeztas S, Pepkowitz S, Graham JM Jr.
     Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16.
    Prenat Diagn. 1994 Apr;14(4):257-266.
  187. Gardner RJ, Robinson DO, Lamont L, Shield JP, Temple IK.
    Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus.
     Clin Genet. 1998 Dec;54(6):522-525.
  188. Gardner RJ, Mungall AJ, Dunham I, Barber JC, Shield JP, Temple IK, Robinson DO.
     Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.
    J Med Genet. 1999 Mar;36(3):192-196.
  189. Genuardi M, Tozzi C, Pomponi MG, Stagni ML, Della Monica M, Scarano G, Calvieri F, Torrisi L, Neri G.
     Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies.
    Eur J Hum Genet. 1999 May-Jun;7(4):421-426.
  190. Giardina E, Peconi C, Cascella R, Sinibaldi C, Nardone AM, Novelli G.
     A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15.
    Electrophoresis. 2008 Dec;29(23):4775-4779.
  191. Giardina E, Peconi C, Cascella R, Sinibaldi C, Foti Cuzzola V, Nardone AM, Bramanti P, Novelli G.
     A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7.
    Electrophoresis. 2009 Jun;30(11):2008-2011.
  192. Gillessen-Kaesbach G, Albrecht B, Passarge E, Horsthemke B.
     Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype.
    Am J Med Genet. 1995 Apr 10;56(3):328-329.
  193. Ginsburg C, Fokstuen S, Schinzel A.
     The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.
    Am J Med Genet. 2000 Dec 18;95(5):454-460.
  194. Schinzel A, Kotzot D, Brecevic L, Robinson WP, Dutly F, Dauwerse H, Binkert F, Baumer A, Ausserer B.
     Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy.
    Eur J Hum Genet. 1997 Sep-Oct;5(5):308-314.
  195. Grati FR, Turolla L, D'Ajello P, Ruggeri A, Miozzo M, Bracalente G, Baldo D, Laurino L, Boldorini R, Frate E, Surico N, Larizza L, Maggi F, Simoni G.
     Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.
    J Med Genet. 2007 Apr;44(4):257-263.
  196. Guettard E, Portnoi MF, Lohmann-Hedrich K, Keren B, Rossignol S, Winkler S, El Kamel I, Leu S, Apartis E, Vidailhet M, Klein C, Roze E.
     Myoclonus-dystonia due to maternal uniparental disomy.
    Arch Neurol. 2008 Oct;65(10):1380-1385.
  197. Gyftodimou J, Karadima G, Pandelia E, Vassilopoulos D, Petersen MB.
     Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.
    Clin Genet. 1999 Jun;55(6):483-486.
  198. Hong M, Beischel L, Rakeach J, Wallace D, Knops J, O'Connor K, Johnson J, Ibrahim J.
    Prenatal detection of maternal uniparental disomy (UPD) of chromosome 6 and 'rescue' of Trisomy 6.
    Abstrcats of the 57th annual meeting of theh ASHG 2007; Abstractno 2428.
  199. Hahnemann JM, Nir M, Friberg M, Engel U, Bugge M.
     Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations.
    Am J Med Genet A. 2005 Oct 1;138A(2):150-154.
  200. Hannula K, Lipsanen-Nyman M, Kontiokari T, Kere J.
    A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.
     Am J Hum Genet. 2001 Jan;68(1):247-253.
  201. Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M.
     Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
    J Med Genet. 2001 Apr;38(4):273-278.
  202. Hannula K, Lipsanen-Nyman M, Kristo P, Kaitila I, Simola KO, Lenko HL, Tapanainen P, Holmberg C, Kere J.
     Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause.
    Pediatrics. 2002 Mar;109(3):441-448.
  203. Hansen WF, Bernard LE, Langlois S, Rao KW, Chescheir NC, Aylsworth AS, Smith DI, Robinson WP, Barrett IJ, Kalousek DK.
     Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios.
    Prenat Diagn. 1997 May;17(5):443-450.
  204. Harrison K, Eisenger K, Anyane-Yeboa K, Brown S.
     Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture.
    Am J Med Genet. 1995 Aug 28;58(2):147-151.
  205. Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J.
     Distinct phenotype in maternal uniparental disomy of chromosome 14.
    Am J Med Genet. 1994 Jun 1;51(2):147-149.
  206. Heide E, Heide KG, Rodewald A.
     Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity.
    Am J Med Genet. 2000 Jun 5;92(4):260-263.
  207. Henderson DJ, Sherman LS, Loughna SC, Bennett PR, Moore GE.
     Early embryonic failure associated with uniparental disomy for human chromosome 21.
    Hum Mol Genet. 1994 Aug;3(8):1373-1376.
  208. Henry I, Puech A, Riesewijk A, Ahnine L, Mannens M, Beldjord C, Bitoun P, Tournade MF, Landrieu P, Junien C.
     Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event.
    Eur J Hum Genet. 1993;1(1):19-29.
  209. Henry I, Bonaiti-Pellié C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C.
     Uniparental paternal disomy in a genetic cancer-predisposing syndrome.
    Nature. 1991 Jun 20;351(6328):665-667.
  210. Hermann R, Laine AP, Johansson C, Niederland T, Tokarska L, Dziatkowiak H, Ilonen J, Soltész G.
     Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6.
    Pediatrics. 2000 Jan;105(1 Pt 1):49-52.
  211. Hermann R, Soltész G.
     Paternal uniparental isodisomy of chromosome 6 in transient neonatal diabetes mellitus.
    Eur J Pediatr. 1997 Sep;156(9):740.
  212. Herzfeld T, Wolf N, Winter P, Hackstein H, Vater D, Müller U.
     Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).
    Neurogenetics. 2009 Feb;10(1):59-64.
  213. Hoffman TL, Blanco E, Lane A, Galvin-Parton P, Gadi I, Santer R, DeLeón D, Stanley C, Wilson TA.
     Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.
    Clin Genet. 2007 Jun;71(6):551-557.
  214. Honma A, Ishii R, Ito A, Kato M, Saitoh S, Hayasaka K.
     Prader-Willi syndrome in a child with XYY.
    J Hum Genet. 1999;44(6):412-413.
  215. Hordijk R, Wierenga H, Scheffer H, Leegte B, Hofstra RM, Stolte-Dijkstra I.
     Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype.
    J Med Genet. 1999 Oct;36(10):782-785.
  216. Horike S, Ferreira JC, Meguro-Horike M, Choufani S, Smith AC, Shuman C, Meschino W, Chitayat D, Zackai E, Scherer SW, Weksberg R.
     Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
    Am J Med Genet A. 2009 Nov;149A(11):2415-2423.
  217. Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW.
     Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
    Genomics. 2002 Feb;79(2):186-196.
  218. Horsthemke B, Nazlican H, Hüsing J, Klein-Hitpass L, Claussen U, Michel S, Lich C, Gillessen-Kaesbach G, Buiting K.
     Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.
    Hum Mol Genet. 2003 Oct 15;12(20):2723-2732.
  219. Hosoki K, Kagami M, Tanaka T, Kubota M, Kurosawa K, Kato M, Uetake K, Tohyama J, Ogata T, Saitoh S.
     Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype.
    J Pediatr. 2009 Dec;155(6):900-903.e1.
  220. Hsu WT, Shchepin DA, Mao R, Berry-Kravis E, Garber AP, Fischel-Ghodsian N, Falk RE, Carlson DE, Roeder ER, Leeth EA, Hajianpour MJ, Wang JC, Rosenblum-Vos LS, Bhatt SD, Karson EM, Hux CH, Trunca C, Bialer MG, Linn SK, Schreck RR.
     Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases.
    Am J Med Genet. 1998 Dec 28;80(5):473-480.
  221. Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S.
     An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism.
    Diabetes. 2008 Jan;57(1):259-263.
  222. Ichikawa M, Okajima M, Wada T, Gokan Y, Shimakage H, Tonoki H, Saitoh S.
     Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy.
    Pediatr Int. 2006 Feb;48(1):97-99.
  223. Indo Y, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.
     Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
    Hum Mutat. 2001 Oct;18(4):308-318.
  224. Itoh N, Becroft DM, Reeve AE, Morison IM.
     Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-beckwith syndrome.
    Am J Med Genet. 2000 May 15;92(2):111-116.
  225. Jones C, Booth C, Rita D, Jazmines L, Spiro R, McCulloch B, McCaskill C, Shaffer LG.
     Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism.
    Prenat Diagn. 1995 Sep;15(9):843-848.
  226. Kagami M, Nishimura G, Okuyama T, Hayashidani M, Takeuchi T, Tanaka S, Ishino F, Kurosawa K, Ogata T.
     Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features.
    Am J Med Genet A. 2005 Oct 1;138A(2):127-132.
  227. Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T.
     Placentomegaly in paternal uniparental disomy for human chromosome 14.
    Placenta. 2008 Aug;29(8):760-761.
  228. Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR.
     Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
    Am J Med Genet A. 2008 Jul 15;146A(14):1842-1847.
  229. Karanjawala ZE, Kääriäinen H, Ghosh S, Tannenbaum J, Martin C, Ally D, Tuomilehto J, Valle T, Collins FS.
     Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor.
    Am J Med Genet. 2000 Jul 31;93(3):207-210.
  230. Katahira M, Kayashima T, Kishino T, Niikawa N.
     Maternal uniparental disomy for chromosome 14 with diabetes mellitus.
    Intern Med. 2002 Sep;41(9):717-721.
  231. Kayashima T, Katahira M, Harada N, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Nakamura Y, Kajii T, Niikawa N, Kishino T.
     Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.
    Am J Med Genet. 2002 Jul 22;111(1):38-42.
  232. Keller MC, McRae AF, McGaughran JM, Visscher PM, Martin NG, Montgomery GW.
     Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan.
    Am J Med Genet A. 2009 Aug;149A(8):1823-1826.
  233. Kenny AP, Crimmins NA, Mackay DJ, Hopkin RJ, Bove KE, Leonis MA.
     Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.
    Pediatr Dev Pathol. 2009 Sep-Oct;12(5):417-420.
  234. Kim Y, Kim SS, Kim G, Park S, Park IS, Yoo HW.
     Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient using methylation-specific PCR assays.
    Clin Genet. 2005 Mar;67(3):267-269.
  235. Kirkels VG, Hustinx TW, Scheres JM.
     Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter.
    Clin Genet. 1980 Dec;18(6):456-461.
  236. Kohlhase J, Janssen B, Weidenauer K, Harms K, Bartels I.
     First confirmed case with paternal uniparental disomy of chromosome 16.
    Am J Med Genet. 2000 Mar 20;91(3):190-191.
  237. Kondo Y, Tsukishiro S, Tanemura M, Sugiura-Ogasawara M, Suzumori K, Sonta S.
     Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion.
    J Hum Genet. 2004;49(4):177-181.
  238. Kosaki K, Kosaki R, Robinson WP, Craigen WJ, Shaffer LG, Sato S, Matsuo N.
     Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay.
    J Med Genet. 2000 Sep;37(9):E19.
  239. Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Méhes K, Hamel BC, Otten BJ, Hergersberg M, E Werder, E Schoenle, A Schinzel.
     Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation.
    Hum Mol Genet. 1995 Apr;4(4):583-537.
  240. Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A.
     Maternal uniparental disomy 7--review and further delineation of the phenotype.
    Eur J Pediatr. 2000 Apr;159(4):247-256.
  241. Kuchinka BD, Barrett IJ, Moya G, Sánchez JM, Langlois S, Yong SL, Kalousek DK, Robinson WP.
     Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy.
    Prenat Diagn. 2001 Jan;21(1):36-39.
  242. Lai LW, Erickson RP, Cassidy SB.
     Clinical correlates of chromosome 15 deletions and maternal disomy in Prader-Willi syndrome.
    Am J Dis Child. 1993 Nov;147(11):1217-1223.
  243. Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK.
     Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.
    J Med Genet. 1995 Nov;32(11):871-875.
  244. Lau AW, Brown CJ, Peñaherrera M, Langlois S, Kalousek DK, Robinson WP.
     Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.
    Am J Hum Genet. 1997 Dec;61(6):1353-1361.
  245. Lebre AS, Morinière V, Dunand O, Bensman A, Morichon-Delvallez N, Antignac C.
     Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.
    Eur J Hum Genet. 2009 Aug;17(8):1019-1023.
  246. Le Caignec C, Isidor B, de Pontbriand U, David V, Audrezet MP, Ferec C, David A.
     Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth.
    Am J Med Genet A. 2007 Nov 15;143A(22):2696-2699.
  247. L'Herminé AC, Aboura A, Brisset S, Cuisset L, Castaigne V, Labrune P, Frydman R, Tachdjian G.
     Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.’
    Prenat Diagn. 2003 Nov;23(11):938-943.
  248. Li H, Meng S, Chen Z, Li H, Du M, Ma H, Wei H, Duan H, Zheng H, Wenren Q, Song X.
     Molecular genetic diagnostics of Prader-Willi Syndrome: a validation of linkage analysis for the Chinese population.
    J Genet Genomics. 2007 Oct;34(10):885-891.
  249. López-Gutiérrez AU, Riba L, Ordoñez-Sánchez ML, Ramírez-Jiménez S, Cerrillo-Hinojosa M, Tusié-Luna MT.
     Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.
    J Med Genet. 1998 Dec;35(12):1014-1019.
  250. Lorda-Sanchez I, Binkert F, Hinkel KG, Moser H, Rosenkranz W, Maechler M, Schinzel A.
     Uniparental origin of sex chromosome polysomies.
    Hum Hered. 1992;42(3):193-197.
  251. Los FJ, van Opstal D, van den Berg C, Braat AP, Verhoef S, Wesby-van Swaay E, van den Ouweland AM, Halley DJ.
     Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue.
    Prenat Diagn. 1998 Jul;18(7):659-668.
  252. Van Opstal D, Van den Berg C, Deelen WH, Brandenburg H, Cohen-Overbeek TE, Halley DJ, Van den Ouweland AM, In 't Veld PA, Los FJ.
     Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy.
    Prenat Diagn. 1998 Jan;18(1):35-44.
  253. Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour JA, Jeffreys AJ, Pembrey ME.
     Uniparental paternal disomy in Angelman's syndrome.
    Lancet. 1991 Mar 23;337(8743):694-697.
  254. Malvagia S, Papi L, Morrone A, Donati MA, Ciani F, Pasquini E, la Marca G, Scholte HR, Genuardi M, Zammarchi E.
     Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
    Ann Hum Genet. 2007 Nov;71(Pt 6):705-712.
  255. Mansuet-Lupo A, Henke J, Henke L, Blank C, Ernsting A, Kozlowski P, Rouger P, Van Huffel V.
     A paternity case with three genetic incompatibilities between father and child due to maternal uniparental disomy 21 and a mutation at the Y chromosome.
    Forensic Sci Int Genet. 2009 Mar;3(2):141-143.
  256. Marquis E, Le Monnier de Gouville I, Bouvattier C, Robert JJ, Junien C, Charron D, Hors J, Diatloff-Zito C.
     HLA-DRB1 and DQB1 genotypes in patients with insulin-dependent neonatal diabetes mellitus. A study of 13 cases.
    Tissue Antigens. 2000 Sep;56(3):217-222.
  257. Marquis E, Robert JJ, Benezech C, Junien C, Diatloff-Zito C.
     Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6.
    Eur J Hum Genet. 2000 Feb;8(2):137-140.
  258. Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JA, Jeffreys AJ, Ladda RL, Nicholls RD.
     The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.
    N Engl J Med. 1992 Jun 11;326(24):1599-1607.
  259. McGowan KD, Weiser JJ, Horwitz J, Berend SA, McCaskill C, Sutton VR, Shaffer LG.
     The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements.
    Prenat Diagn. 2002 Feb;22(2):141-143.
  260. Mergenthaler S, Wollmann HA, Burger B, Eggermann K, Kaiser P, Ranke MB, Schwanitz G, Eggermann T.
     Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature.
    Ann Genet. 2000 Jan-Mar;43(1):15-21.
  261. Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB.
     Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy.
    Hum Genet. 1997 Sep;100(3-4):415-419.
  262. Mergenthaler S, Sharp A, Ranke MB, Kalscheuer VM, Wollmann HA, Eggermann T.
     Gene dosage analysis in Silver-Russell syndrome: use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13.
    Genet Test. 2001 Fall;5(3):261-266.
  263. Mergenthaler S, Dobos M, Wollmann H, Eggermann K, Schwanitz G, Eggermann T.
     [Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome]
    Orv Hetil. 2001 Jul 22;142(29):1561-1564.
  264. Moraes LM, Cardoso LC, Moura VL, Moreira MA, Menezes AN, Llerena JC Jr, Seuánez HN.
     Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy.
    Mol Cytogenet. 2009 Oct 7;2:20.
  265. Middleton FA, Trauzzi MG, Shrimpton AE, Gentile KL, Morley CP, Medeiros H, Pato MT, Pato CN.
     Complete maternal uniparental isodisomy of chromosome 4 in a subject with major depressive disorder detected by high density SNP genotyping arrays.
    Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):28-32.
  266. Milenkovic T, Zdravkovic D, Gardner RJ, Ignjatovic M, Jankovic B.
     Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6.
    J Pediatr Endocrinol Metab. 2001 Jul-Aug;14(7):893-895.
  267. Milenkovic T, Martic J, Robinson DO, Mackay DJ, Petrovic K, Zdravkovic D.
     Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24.
    J Pediatr Endocrinol Metab. 2006 Nov;19(11):1353-1357.
  268. Milunsky JM, Wyandt HE, Huang XL, Kang XZ, Elias ER, Milunsky A.
     Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant.
    Am J Med Genet. 1996 Jan 22;61(3):269-273.
  269. Miozzo M, Grati FR, Bulfamante G, Rossella F, Cribiù M, Radaelli T, Cassani B, Persico T, Cetin I, Pardi G, Simoni G.
     Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression.
    Placenta. 2001 Nov;22(10):813-821.
  270. Miyoshi O, Hayashi S, Fujimoto M, Tomita H, Sohda M, Niikawa N.
     Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation.
    J Hum Genet. 1998;43(2):138-142.
  271. Miyoshi O, Yabe R, Wakui K, Fukushima Y, Koizumi S, Uchikawa M, Kajii T, Numakura C, Takahashi S, Hayasaka K, Niikawa N.
     Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1.
    Am J Med Genet. 2001 Dec 1;104(3):250-256.
  272. Murthy SK, al-Nassar KE, Verghese L.
     Sporadic occurrence of nondeletion Prader-Willi syndrome in two cases: a female with maternal uniparental disomy and a male with complex chromosomal rearrangement.
    Nutrition. 1995 Sep-Oct;11(5 Suppl):650-652.
  273. Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH.
     Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.
    Hum Mol Genet. 1993 Feb;2(2):143-151.
  274. Nakamura Y, Nagai T, Iida T, Ozeki S, Nohara Y.
     Epidemiological aspects of scoliosis in a cohort of Japanese patients with Prader-Willi syndrome.
    Spine J. 2009 Oct;9(10):809-816.
  275. Nazarenko S, Sazhenova E, Baumer A, Schinzel A.
     Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.
    Eur J Hum Genet. 2004 May;12(5):411-414.
  276. Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y.
     11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.
    J Clin Endocrinol Metab. 2007 Aug;92(8):3148-3154. Epub 2007 May 15. Erratum in: J Clin Endocrinol Metab. 2007 Nov;92(11):4305.
  277. Nicholls RD, Knoll JH, Butler, Karam S, Lalande M.
     Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.
    Nature. 1989 Nov 16;342(6247):281-285.
  278. Nicholls RD, Pai GS, Gottlieb W, Cantú ES.
     Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
    Ann Neurol. 1992 Oct;32(4):512-518.
  279. Noeker M, Wollmann HA.
     Cognitive development in Silver-Russell syndrome: a sibling-controlled study.
    Dev Med Child Neurol. 2004 May;46(5):340-346.
  280. Offiah AC, Cornette L, Hall CM.’
     Paternal uniparental disomy 14: introducing the "coat-hanger" sign.
    Pediatr Radiol. 2003 Jul;33(7):509-512.
  281. Oiglane-Shlik E, Talvik T, Zordania R, Põder H, Kahre T, Raukas E, Ilus T, Tasa G, Bartsch O, Väisänen ML, Ounap K.
     Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented.
    Am J Med Genet A. 2006 Sep 15;140(18):1936-1943.
  282. Olander E, Stamberg J, Steinberg L, Wulfsberg EA.
     Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15.
    Am J Med Genet. 2000 Jul 31;93(3):215-218.
  283. Ouldim K, Sbiti A, Natiq A, El-Kerch F, Cherkaoui S, Sefiani A.
     Unexpected fertility and paternal UPD 22.
    Fertil Steril. 2008 Nov;90(5):2013.e13-e15.
  284. Palmer CG, Schwartz S, Hodes ME.
     Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter.
    Clin Genet. 1980 Jun;17(6):418-422.
  285. Pálsson GI, Finnsdóttir V, Jóhannsson JH, Ingvarsson S.
     [Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland]
    Laeknabladid. 2005 Nov;91(11):837-840. Icelandic.
  286. Papenhausen PR, Mueller OT, Johnson VP, Sutcliffe M, Diamond TM, Kousseff BG.
     Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult.
    Am J Med Genet. 1995 Nov 20;59(3):271-275.
  287. Park JP, Moeschler JB, Hani VH, Hawk AB, Belloni DR, Noll WW, Mohandas TK.
     Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
    Am J Med Genet. 1998 Jun 30;78(2):134-139.
  288. Parker EA, Hovanes K, Germak J, Porter F, Merke DP.
     Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.
    Am J Med Genet A. 2006 Oct 15;140(20):2236-2240.
  289. Splitt MP, Goodship JA.
     Another case of maternal uniparental disomy chromosome 14 syndrome.
    Am J Med Genet. 1997 Oct 17;72(2):239-240.
  290. Splitt MP, Goodship JA.
     Another case of maternal uniparental disomy chromosome 14 syndrome.
    Am J Med Genet. 1997 Oct 17;72(2):239-240.
  291. Petit FM, Gajdos V, Parisot F, Capel L, Aboura A, Lachaux A, Tachdjian G, Poüs C, Labrune P.
     Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
    Eur J Hum Genet. 2005 Mar;13(3):278-282.
  292. Piantanida M, Dellavecchia C, Floridia G, Giglio S, Hoeller H, Dordi B, Danesino C, Schinzel A, Zuffardi O.
     Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?
    Hum Genet. 1997 Jun;99(6):766-771.
  293. Potgieter S, Matthijs G, De Cock P, Fryns JP.
     Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7.
    Eur J Pediatr. 2000 Dec;159(12):929-930.
  294. Prasad C, Wagstaff J.
     Genotype and phenotype in Angelman syndrome caused by paternal UPD 15.
    Am J Med Genet. 1997 Jun 13;70(3):328-329.
  295. Preece MA, Price SM, Davies V, Clough L, Stanier P, Trembath RC, Moore GE.
     Maternal uniparental disomy 7 in Silver-Russell syndrome.
    J Med Genet. 1997 Jan;34(1):6-9.
  296. Preece MA, Abu-Amero SN, Ali Z, Abu-Amero KK, Wakeling EL, Stanier P, Moore GE.
     An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands.
    J Med Genet. 1999 Jun;36(6):457-460.
  297. Quan F, Janas J, Toth-Fejel S, Johnson DB, Wolford JK, Popovich BW.
     Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.
    Am J Hum Genet. 1997 Jan;60(1):160-165.
  298. Ralph A, Scott F, Tiernan C, Caubere M, Kollegger S, Junio J, Roberts C, Ewen K, Slater HR.
     Maternal uniparental isodisomy for chromosome 14 detected prenatally.
    Prenat Diagn. 1999 Jul;19(7):681-684.
  299. Reboul MP, Tandonnet O, Biteau N, Belet-de Putter C, Rebouissoux L, Moradkhani K, Vu PY, Saura R, Arveiler B, Lacombe D, Taine L, Iron A.
     Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.
    Clin Genet. 2006 Sep;70(3):207-213.
  300. Riveiro-Alvarez R, Valverde D, Lorda-Sanchez I, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Ramos C, Ayuso C.
     Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.
    Mol Vis. 2007 Jan 26;13:96-101.
  301. Roberson ED, Pevsner J.
     Visualization of shared genomic regions and meiotic recombination in high-density SNP data.
    PLoS One. 2009 Aug 21;4(8):e6711.
  302. Schinzel AA, Robinson WP, Binkert F, Torresani T, Werder EA.
     Exclusively paternal X chromosomes in a girl with short stature.
    Hum Genet. 1993 Sep;92(2):175-178.
  303. Robinson WP, Lorda-Sanchez I, Malcolm S, Langlois S, Schuffenhauer S, Knoblauch H, Horsthemke B, Schinzel AA.
     Increased parental ages and uniparental disomy 15: a paternal age effect?
    Eur J Hum Genet. 1993;1(4):280-286.
  304. Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LM, Lüleci G, Schinzel AA.
     A somatic origin of homologous Robertsonian translocations and isochromosomes.
    Am J Hum Genet. 1994 Feb;54(2):290-302.
  305. Lerer I, Meiner V, Pashut-Lavon I, Abeliovich D.
     Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms.
    Am J Med Genet. 1994 Aug 1;52(1):79-84.
  306. Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK.
     Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.
    Am J Hum Genet. 1997 Apr;60(4):917-927.
  307. Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Schuffenhauer S, Michaelis R, Abeliovich D, Lerer I, Christian S, Guitart M, McFadden DE, Robinson WP.
     Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.
    Am J Med Genet. 1996 Oct 16;65(2):133-136.
  308. Robinson WP, Christian SL, Kuchinka BD, Peñaherrera MS, Das S, Schuffenhauer S, Malcolm S, Schinzel AA, Hassold TJ, Ledbetter DH.
     Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.
    Clin Genet. 2000 May;57(5):349-358.
  309. Gillessen-Kaesbach G, Robinson W, Lohmann D, Kaya-Westerloh S, Passarge E, Horsthemke B.
     Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.
    Hum Genet. 1995 Dec;96(6):638-643.
  310. Butler MG.
     Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns.
    Am J Med Genet. 1996 Jan 11;61(2):188-190.
  311. Rogan PK, Sabol DW, Punnett HH.
     Maternal uniparental disomy of chromosome 21 in a normal child.
    Am J Med Genet. 1999 Mar 5;83(1):69-71.
  312. Ruggeri A, Dulcetti F, Miozzo M, Grati FR, Grimi B, Bellato S, Natacci F, Maggi F, Simoni G.
     Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations.
    Prenat Diagn. 2004 Dec 15;24(12):997-1000.
  313. Russo S, Bedeschi MF, Cogliati F, Natacci F, Gianotti A, Parini R, Selicorni A, Larizza L.
     Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression.
    Clin Dysmorphol. 2000 Jul;9(3):157-162.
  314. Saitoh S, Wada T, Okajima M, Takano K, Sudo A, Niikawa N.
     Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome.
    Brain Dev. 2005 Aug;27(5):389-391.
  315. Salafsky IS, MacGregor SN, Claussen U, von Eggeling F.
     Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20.
    Prenat Diagn. 2001 Oct;21(10):860-863.
  316. Salavoura K, Kolialexi A, Sofocleous C, Kalaitzidaki M, Pampanos A, Kitsiou S, Mavrou A.
     Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome.
    Genet Couns. 2008;19(2):219-224.
  317. Sanlaville D, Aubry MC, Dumez Y, Nolen MC, Amiel J, Pinson MP, Lyonnet S, Munnich A, Vekemans M, Morichon-Delvallez N.
     Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up.
    J Med Genet. 2000 Jul;37(7):525-528.
  318. Schinzel AA, Basaran S, Bernasconi F, Karaman B, Yüksel-Apak M, Robinson WP.
     Maternal uniparental disomy 22 has no impact on the phenotype.
    Am J Hum Genet. 1994 Jan;54(1):21-24.
  319. Schinzel A, Kotzot D, Brecevic L, Robinson WP, Dutly F, Dauwerse H, Binkert F, Baumer A, Ausserer B.
     Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy.
    Eur J Hum Genet. 1997 Sep-Oct;5(5):308-314.
  320. Schneider AS, Bischoff FZ, McCaskill C, Coady ML, Stopfer JE, Shaffer LG.
     Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16.
    Am J Med Genet. 1996 Dec 11;66(2):204-208.
  321. Schollen E, Grünewald S, Keldermans L, Albrecht B, Körner C, Matthijs G.
     CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).
    Eur J Med Genet. 2005 Apr-Jun;48(2):153-158.
  322. Sellner LN, Price PJ.
     Segmental isodisomy and skewed X-inactivation resulting in haemophilia B in a female.
    Br J Haematol. 2005 Nov;131(3):410-411.
  323. Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D.
     Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate.
    Prenat Diagn. 2002 Aug;22(8):649-651.
  324. Sirchia SM, De Andreis C, Pariani S, Grimoldi MG, Molinari A, Buscaglia M, Simoni G.
     Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype.
    Hum Genet. 1994 Oct;94(4):355-358.
  325. Shield JP, Flanagan SE, Mackay DJ, Harries LW, Proks P, Girard C, Ashcroft FM, Temple IK, Ellard S.
     Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
    Diabetes. 2008 Jan;57(1):255-258.
  326. Slater H, Shaw JH, Dawson G, Bankier A, Forrest SM.
     Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.
    J Med Genet. 1994 Aug;31(8):644-646.
  327. Slater H, Shaw JH, Bankier A, Forrest SM, Dawson G.
     UPD 13: no indication of maternal or paternal imprinting of genes on chromosome 13.
    J Med Genet. 1995 Jun;32(6):493.
  328. Slater HR, Vaux C, Pertile M, Burgess T, Petrovic V.
     Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation analysis--uniparental disomy and the significance of residual trisomy 15.
    Prenat Diagn. 1997 Feb;17(2):109-113.
  329. Slater HR, Ralph A, Daniel A, Worthington S, Roberts C.
     A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy.
    Prenat Diagn. 2000 Nov;20(11):930-932.
  330. Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher ER.
     Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
    J Med Genet. 1994 Oct;31(10):749-753.
  331. Smith A, Robson L, Neumann A, Mulcahy M, Chabros V, Deng ZM, Woodage T, Trent RJ.
     Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome.
    Clin Genet. 1993 Jan;43(1):5-8.
  332. Soler A, Margarit E, Queralt R, Carrió A, Costa D, Gómez D, Ballesta F.
     Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis.
    Am J Med Genet. 2000 Feb 14;90(4):291-293.
  333. Sonnappa S, Prescott K, Adler B, Dinwiddie R, Wallis C.
     Cystic fibrosis and Russell-Silver syndrome in a child with maternal isodisomy of chromosome 7.
    Pediatr Pulmonol. 2005 Aug;40(2):166-168.
  334. Soong YK, Wang TH, Lee YS, Chen CP, Chang CL, Ho SY, Chao AS, Cheng PJ, Chang SD.
     Genome-wide detection of uniparental disomy in a fetus with intrauterine growth restriction using genotyping microarrays.
    Taiwan J Obstet Gynecol. 2009 Jun;48(2):152-158.
  335. Spena S, Duga S, Asselta R, Peyvandi F, Mahasandana C, Malcovati M, Tenchini ML.
     Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene.
    Eur J Hum Genet. 2004 Nov;12(11):891-898.
  336. Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL.
     Uniparental disomy as a mechanism for human genetic disease.
    Am J Hum Genet. 1988 Feb;42(2):217-226.
  337. Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M.
     Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.
    Hum Mutat. 2002 Dec;20(6):447-451.
  338. Spiro RP, Christian SL, Ledbetter DH, New MI, Wilson RC, Roizen N, Rosenfield RL.
     Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia.
    Pediatr Res. 1999 Nov;46(5):510-513.
  339. Stallard R, Krueger S, James RS, Schwartz S.
     Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q).
    Am J Med Genet. 1995 May 22;57(1):14-18.
  340. Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N.
     Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.
    Am J Med Genet A. 2004 Sep 15;130A(1):88-91.
  341. Stratakis CA, Taymans SE, Schteingart D, Haddad BR.
     Segmental uniparental isodisomy (UPD) for 2p16 without clinical symptoms: implications for UPD and other genetic studies of chromosome 2.
    J Med Genet. 2001 Feb;38(2):106-109.
  342. Sulisalo T, Mäkitie O, Sistonen P, Ridanpää M, el-Rifai W, Ruuskanen O, de la Chapelle A, Kaitila I.
     Uniparental disomy in cartilage-hair hypoplasia.
    Eur J Hum Genet. 1997 Jan-Feb;5(1):35-42.
  343. Surh LC, Wang H, Hunter AG.
     Deletion and uniparental disomy involving the same maternal chromosome 15.
    N Engl J Med. 1994 Feb 24;330(8):572-573.
  344. Takahashi I, Takahashi T, Utsunomiya M, Takada G, Koizumi A.
     Long-acting gonadotropin-releasing hormone analogue treatment for central precocious puberty in maternal uniparental disomy chromosome 14.
    Tohoku J Exp Med. 2005 Dec;207(4):333-338.
  345. Talseth-Palmer BA, Bowden NA, Meldrum C, Nicholl J, Thompson E, Friend K, Liebelt J, Bratkovic D, Haan E, Yu S, Scott RJ.
     A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology.
    Cytogenet Genome Res. 2009;124(1):94-101.
  346. Temple IK, Cockwell A, Hassold T, Pettay D, Jacobs P.
     Maternal uniparental disomy for chromosome 14.
    J Med Genet. 1991 Aug;28(8):511-514.
  347. Toth-Fejel S, Olson S, Gunter K, Quan F, Wolford J, Popovich BW, Magenis RE.
     The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction.
    Am J Hum Genet. 1996 May;58(5):1008-1016.
  348. Ting JC, Roberson ED, Miller ND, Lysholm-Bernacchi A, Stephan DA, Capone GT, Ruczinski I, Thomas GH, Pevsner J.
     Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio.
    Hum Mutat. 2007 Dec;28(12):1225-1235.
  349. Altug-Teber O, Dufke A, Poths S, Mau-Holzmann UA, Bastepe M, Colleaux L, Cormier-Daire V, Eggermann T, Gillessen-Kaesbach G, Bonin M, Riess O.
     A rapid microarray based whole genome analysis for detection of uniparental disomy.
    Hum Mutat. 2005 Aug;26(2):153-159.
  350. Bastepe M, Lane AH, Jüppner H.
     Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.
    Am J Hum Genet. 2001 May;68(5):1283-1289.
  351. Borck G, Rio M, Sanlaville D, Redon R, Molinari F, Bacq D, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L.
     Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.
    Clin Genet. 2004 Aug;66(2):122-127.
  352. Tiranti V, Lamantea E, Uziel G, Zeviani M, Gasparini P, Marzella R, Rocchi M, Fried M.
     Leigh syndrome transmitted by uniparental disomy of chromosome 9.
    J Med Genet. 1999 Dec;36(12):927-928.
  353. Tomkins DJ, Roux AF, Waye J, Freeman VC, Cox DW, Whelan DT.
     Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty.
    Eur J Hum Genet. 1996;4(3):153-159.
  354. Tompson SW, Ruiz-Perez VL, Wright MJ, Goodship JA.
     Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.
    J Med Genet. 2001 Jun;38(6):E18.
  355. Tonk V, Schultz RA, Christian SL, Kubota T, Ledbetter DH, Wilson GN.
     Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy.
    Am J Med Genet. 1996 Dec 30;66(4):426-428.
  356. Lin HY, Lin SP, Yen JL, Lee YJ, Huang CY, Hung HY, Hsu CH, Kao HA, Chang JH, Chiu NC, Ho CS, Chao MC, Niu DM, Tsai LP, Kuo PL.
     Prader-Willi syndrome in Taiwan.
    Pediatr Int. 2007 Jun;49(3):375-379.
  357. Tsai AC, Gibby T, Beischel L, McGavran L, Johnson JP.
     A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13.
    Am J Med Genet A. 2004 Apr 15;126A(2):208-212.
  358. Tsukishiro S, Li QY, Tanemura M, Sugiura-Ogasawara M, Suzumori K, Sonta S.
     Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion.
    J Hum Genet. 2005;50(3):112-117.
  359. Valente KD, Fridman C, Varela MC, Koiffmann CP, Andrade JQ, Grossmann RM, Kok F, Marques-Dias MJ.
     Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns.
    Epilepsy Res. 2005 Dec;67(3):163-168.
  360. van den Berg-Loonen EM, Savelkoul P, van Hooff H, van Eede P, Riesewijk A, Geraedts J.
     Uniparental maternal disomy 6 in a renal transplant patient.
    Hum Immunol. 1996 Jan;45(1):46-51.
  361. Van den Berg C, Ramlakhan SK, Van Opstal D, Brandenburg H, Halley DJ, Los FJ.
     Prenatal diagnosis of trisomy 9: cytogenetic, FISH, and DNA studies.
    Prenat Diagn. 1997 Oct;17(10):933-940.
  362. van Riesen AK, Antonicka H, Ohlenbusch A, Shoubridge EA, Wilichowski EK.
     Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation.
    Neuropediatrics. 2006 Apr;37(2):88-94.
  363. Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP.
     Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients.
    Clin Genet. 2005 Jan;67(1):47-52.
  364. Varon R, Müer A, Wagner K, Zierler H, Sodia S, Rauter L, Petek E, Tönnies H, Neitzel H, Sperling K, Kroisel PM.
     Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.
    Am J Med Genet A. 2007 Jan 1;143(1):92-94.
  365. Velázquez-Aragón J, Alcántara-Ortigoza MA, Vela-Amieva M, Monroy S, Martínez-Cruz V, Todd-Quiñones C, González-Del Angel A.
     Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
    J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S333-7.
  366. Velissariou V, Antoniadi T, Gyftodimou J, Bakou K, Grigoriadou M, Christopoulou S, Hatzipouliou A, Donoghue J, Karatzis P, Katsarou E, Petersen MB.
     Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis.
    Eur J Hum Genet. 2002 Nov;10(11):694-698.
  367. Vogels A, Matthijs G, Legius E, Devriendt K, Fryns JP.
     Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome.
    J Med Genet. 2003 Jan;40(1):72-73.
  368. Walter CA, Shaffer LG, Kaye CI, Huff RW, Ghidoni PD, McCaskill C, McFarland MB, Moore CM.
     Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11).
    Am J Med Genet. 1996 Nov 11;65(4):259-265.
  369. Wand D, Glaser C, Brun-Heath I, Thiele H, Hermann A, Musil A, Hansmann I, Mornet E.
    Hypophosphatasia and homozygosity for a parental heterozygous G403S TNSALP mutation due to segmental paternal isodisomy for chromosome 1p.
    Abstracts of the ASHG meeting 2004; Abstractno. 593.
  370. Wang JC, Passage MB, Yen PH, Shapiro LJ, Mohandas TK.
     Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.
    Am J Hum Genet. 1991 Jun;48(6):1069-1074.
  371. Wang JC, Mamunes P, Kou SY, Schmidt J, Mao R, Hsu WT.
     Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16.
    Am J Med Genet. 1998 Dec 4;80(4):418-422.
  372. Wang J, Wang H, Wang Y, Chen T, Wu X, Jiang Y.
     Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.
    Brain Dev. 2010 Mar;32(3):236-243.
  373. Wattanasirichaigoon D, Promsonthi P, Chuansumrit A, Leopairut J, Yanatatsaneejit P, Rattanatanyong P, Munkongdee T, Fucharoen S, Mutirangura A.
     Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart's hydrops fetalis.
    Clin Genet. 2008 Sep;74(3):284-287.
  374. Webb A, Beard J, Wright C, Robson S, Wolstenholme J, Goodship J.
     A case of paternal uniparental disomy for chromosome 11.
    Prenat Diagn. 1995 Aug;15(8):773-777.
  375. Webb AL, Sturgiss S, Warwicker P, Robson SC, Goodship JA, Wolstenholme J.
     Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation.
    Prenat Diagn. 1996 Oct;16(10):958-962.
  376. Webb T, Maina EN, Soni S, Whittington J, Boer H, Clarke D, Holland A.
     In search of the psychosis gene in people with Prader-Willi syndrome.
    Am J Med Genet A. 2008 Apr 1;146(7):843-853.
  377. Wegener R, Weirich V, Dauber EM, Mayr WR.
     Mother-child exclusion due to paternal uniparental disomy 6.
    Int J Legal Med. 2006 Sep;120(5):282-285.
  378. Welch TR, Beischel LS, Choi E, Balakrishnan K, Bishof NA.
     Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.
    J Clin Invest. 1990 Aug;86(2):675-678.
  379. Wenda S, Dauber EM, Schwartz DW, Jungbauer C, Weirich V, Wegener R, Mayr WR.
     ACTBP2 (alias ACTBP8) is localized on chromosome 6 (band 6q14).
    Forensic Sci Int. 2005 Mar 10;148(2-3):207-209.
  380. Whiteford ML, Narendra A, White MP, Cooke A, Wilkinson AG, Robertson KJ, Tolmie JL.
     Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.
    J Med Genet. 1997 Feb;34(2):167-168.
  381. Wilkinson TA, James RS, Crolla JA, Cockwell AE, Campbell PL, Temple IK.
     A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9.
    Prenat Diagn. 1996 Apr;16(4):371-374.
  382. Willatt LR, Davison BC, Goudie D, Alexander J, Dyson HM, Jenks PE, Ferguson-Smith ME.
     A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line.
    J Med Genet. 1992 Oct;29(10):742-744.
  383. Wilson M, Peters G, Bennetts B, McGillivray G, Wu ZH, Poon C, Algar E.
     The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports.
    Am J Med Genet A. 2008 Jan 15;146A(2):137-148.
  384. Weise A, Gross M, Mrasek K, Mkrtchyan H, Horsthemke B, Jonsrud C, Von Eggeling F, Hinreiner S, Witthuhn V, Claussen U, Liehr T.
     Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level.
    Int J Mol Med. 2008 Feb;21(2):189-200.
  385. Wiszniewski W, Lewis RA, Lupski JR.
     Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
    Hum Genet. 2007 May;121(3-4):433-439.
  386. Wolstenholme J, White I, Sturgiss S, Carter J, Plant N, Goodship JA.
     Maternal uniparental heterodisomy for chromosome 2: detection through 'atypical' maternal AFP/hCG levels, with an update on a previous case.
    Prenat Diagn. 2001 Oct;21(10):813-817.
  387. Woodage T, Prasad M, Dixon JW, Selby RE, Romain DR, Columbano-Green LM, Graham D, Rogan PK, Seip JR, Smith A,.
     Bloom syndrome and maternal uniparental disomy for chromosome 15.
    Am J Hum Genet. 1994 Jul;55(1):74-80.
  388. Xiao P, Liu P, Weber JL, Papasian CJ, Recker RR, Deng HW.
     Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders.
    Hum Mutat. 2006 Feb;27(2):133-137.
  389. Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T.
     Placental hypoplasia in maternal uniparental disomy for chromosome 7.
    Am J Med Genet A. 2008 Feb 15;146A(4):514-516.
  390. Yan D, Ouyang XM, Angeli SI, Du LL, Liu XZ.
     Paternal uniparental disomy of chromosome 13 causing homozygous 35delG mutation of the GJB2 gene and hearing loss.
    Am J Med Genet A. 2007 Feb 15;143(4):385-386.
  391. Yang XP, Inazu A, Yagi K, Kajinami K, Koizumi J, Mabuchi H.
     Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene.
    Arterioscler Thromb Vasc Biol. 1999 Aug;19(8):1950-1955.
  392. Zhang YW, Jia HY, Hong J, Ge Y, Zhang HJ, Shen CF, Ye L, Cui B, Li XY, Gu WQ, Zhang YF, Wang WQ, Ning G.
     Clinical and genetic analysis for four Chinese families with Prader-Willi syndrome.
    Endocrine. 2009 Aug;36(1):37-44.
  393. Cox GF, Bürger J, Lip V, Mau UA, Sperling K, Wu BL, Horsthemke B.
     Intracytoplasmic sperm injection may increase the risk of imprinting defects.
    Am J Hum Genet. 2002 Jul;71(1):162-164.
  394. Martin RA, Sabol DW, Rogan PK.
     Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2).
    J Med Genet. 1999 Aug;36(8):633-636.
  395. Créau-Goldberg N, Gegonne A, Delabar J, Cochet C, Cabanis MO, Stehelin D, Turleau C, de Grouchy J.
     Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism.
    Hum Genet. 1987 Aug;76(4):396-398.
  396. Vidaud D, Vidaud M, Plassa F, Gazengel C, Noel B, Goossens B.
    Father to son transmission of hemophilia A due to uniparental disomy.
    Am J Hum Genet 1989; 45(Suppl):889.
  397. Grundy P, Telzerow P, Paterson MC, Haber D, Berman B, Li F, Garber J.
     Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasms.
    Lancet. 1991 Oct 26;338(8774):1079-1080.
  398. Bennett P, Vaughan J, Henderson D, Loughna S, Moore G.
     Association between confined placental trisomy, fetal uniparental disomy, and early intrauterine growth retardation.
    Lancet. 1992 Nov 21;340(8830):1284-1285.
  399. Ngo KY, Lee J, Dixon B, Liu D, Jones OW.
    Paternal uniparental iso-disomy in a hydrops fetalis, alpha-thalassemia fetus.
    Am J Hum Genet 1993; 53: A1207.
  400. Brzustowicz LM, Allitto BA, Matseoane D, Theve R, Michaud L, Chatkupt S, Sugarman E, Penchaszadeh GK, Suslak L, Koenigsberger MR, et al.
     Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.
    Am J Hum Genet. 1994 Mar;54(3):482-488.
  401. Miny P, Koppers B, Bogadanova N, Schulte-VAllentin M, Horst J, Dworniczak B.
    Paternal uniparental disomy 22.
    Am J Med Genet 1995; 7: 216.
  402. Hehr U, Dörr S, Hagemann M, Hansmann I, Preiss U, Brömme S.
     Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7.
    Am J Med Genet. 2000 Mar 20;91(3):237-239.
  403. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS.
     Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
    Nature. 2003 May 15;423(6937):293-298.
  404. Kotzot D, Röthlisberger B, Riegel M, Schinzel A.
     Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qter.
    J Med Genet. 2001 Dec;38(12):876-881.
  405. Towner D, Yang SP, Shaffer LG.
     Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter.
    Ultrasound Obstet Gynecol. 2001 Sep;18(3):268-271.
  406. removed
  407. Carpenter NJ, Say B, Barber ND.
     A homozygote for pericentric inversion of chromosome 4.
    J Med Genet. 1982 Dec;19(6):469-471.
  408. Hamabe J, Fukushima Y, Harada N, Abe K, Matsuo N, Nagai T, Yoshioka A, Tonoki H, Tsukino R, Niikawa N.
     Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients.
    Am J Med Genet. 1991 Oct 1;41(1):54-63.
  409. Purvis-Smith SG, Saville T, Manass S, Yip MY, Lam-Po-Tang PR, Duffy B, Johnston H, Leigh D, McDonald B.
     Uniparental disomy 15 resulting from "correction" of an initial trisomy 15.
    Am J Hum Genet. 1992 Jun;50(6):1348-1350.
  410. Collier DA, Barrett TG, Curtis D, Macleod A, Arranz MJ, Maassen JA, Bundey S.
     Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.
    Am J Hum Genet. 1996 Oct;59(4):855-863.
  411. Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L.
     Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.
    J Med Genet. 2002 Apr;39(4):266-270.
  412. Smeets DF, Hamel BC, Nelen MR, Smeets HJ, Bollen JH, Smits AP, Ropers HH, van Oost BA.
     Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.
    N Engl J Med. 1992 Mar 19;326(12):807-811.
  413. Smith A, Deng ZM, Beran R, Woodage T, Trent RJ.
     Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome.
    Hum Genet. 1994 Apr;93(4):471-473.
  414. Woodage T, Deng ZM, Prasad M, Smart R, Lindeman R, Christian SL, Ledbetter DH, Robson L, Smith A, Trent RJ.
     A variety of genetic mechanisms are associated with the Prader-Willi syndrome.
    Am J Med Genet. 1994 Sep 15;54(3):219-226.
  415. Kotzot D, Holland H, Keller E, Froster UG.
     Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth retardation.
    Am J Med Genet. 2001 Aug 1;102(2):169-172.
  416. Järvelä I, Savukoski M, Ammälä P, von Koskull H.
     Prenatally detected paternal uniparental chromosome 13 isodisomy.
    Prenat Diagn. 1998 Nov;18(11):1169-1173.
  417. Freund M, Dahan K, Liebaers I, Hubimont C, Verellen-Dumoulin C.
    Prenatal diagnosis of the Prader-Willi syndrome through a 15;15 isochromosome and maternal disomy.
    Europ J Hum 2000, 8 (Suppl. 1): P109.
  418. Guitart M, Escudero T, Gabau E, Dorminguez MC, Jimenez MD, Mila M, Coll MD.
    Two new cases of Angelman syndrome with a balanced 15;15 translocation and paternal uniparental disomy.
    Cytogenet Cell Genet 1997; 77 (Suppl ): P227.
  419. Ramsden S, Gaunt L, Seres-Santamaria A, Clayton-Smith J.
     A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation.
    Acta Genet Med Gemellol (Roma). 1996;45(1-2):255-261.
  420. Turleau C, Viot G, Burglen L, Caillez D, Layet V, Chauveau P, Faivre L, Morichon N, Delezoide AL, Prieur M, Munnich A, Vekemans M.
    Uniparental disomy of chromosome 8 due to pseudodicentric chromosome: possible mechanism and consequences.
    Am J Hum Genet. 1998, 63: A153 (abstract 865)
  421. Christian SL, Mills P, Das D, Ledbetter DH.
    High risk of uniparental disomy 15 associated with amniotic fluid containing de novo small supernumerary marker 15 chromosomes.
    Am J Hum Genet. 1998, 63: A11 (abstract 52).
  422. Ebrahim SAD, Feldman B, Knaus A, Gyi K, Mills PL, Johnson MP, Evans MI.
    Prenatal diagnosis of maternal uniparental disomy of chromsome 15 in association with de novo supernumerary marker chromosome 15.
    Am J Hum Genet. 1998, 63: A162 (abstract 916).
  423. Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H.
     Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.
    J Med Genet. 1996 Nov;33(11):952-956.
  424. http://cs-tl.de/DB/CA/sSMC/22/c-abnorm.html#der11 
  425. Haag MM, Beischel LS, McCann CL, Reynolds JF, Phillips SM, Tunby ML, Hansen JC, Johnson JP.
    Molecular rescue by mititic recombination as an explanation for recurrence of 11q- Jacobsen syndrome in two brothers.
    Am J Hum Genet. 2001, 69: 586 (abstract 2382).
  426. Giunti L, Lapi E, Guarducci S, Ricci U, Cecconi A, Andreucci E, Ottavianai M, Uzielli MLG.
    Maternal heterodisomy for chromosome 14 and 13/14 Robertsonian translocation in a female with normal mental development, short stature and dysmorphic features.
    Europ J Hum Genet 2002, 10 (Suppl 1): P0214.
  427. Krabchi K, Ferland M, Halal F, Russel L, Duncan AMV, Drouin R.
    Unusual clinical features observed in a young girl having an inherited maternal translocation (13;14) with a mixed maternal uniparental hetero and isodisomy.
    Am J Hum Genet. 2005, 77(Suppl. 1): abstract 843.
  428. Rocha MG, Pinto-Basto J, Garcia E, Reis Lima M, Pinto M, Fortuna A.
    Maternal uniparental disomy of chromosome [mUPD(14)] in a boy with rob(13;14)mat.
    Europ J Hum Genet 2006: 14(Suppl.1):139 (abstract P0182).
  429. Worley KA, Rundus VR, Lee EB, Hannig VL, Hedges LK, Tsuchiya K, Phillips III JA.
    Maternal uniparental disomy 14 presenting as language delay.
    Am J Hum Genet. 2001, 69(Suppl. 1): abstract 738.
  430. Yano S, Li L, Owen S, Wu S, Tran T.
    A further delineation of the paternal uniparental disomy (UPD) 14: The fifth reported case.
    Am J Hum Genet. 2001, 69(Suppl. 1): abstract 739.
  431. Stucke-Sontheimer A, Chaoui R, unger M, Ramel C, von Eggeling F, Thiel G, Hoeltzenbein M.
    Fetal left isomerism (polysplenia) and maternal uniparental isodisomy 14: evidence for a recessive gene for heterotaxia on chromosome 14?
    Medgen 2007; 18:68 (abstract P022).
  432. Kron A, Trübenbach J, Liehr T, Decker J, Steinberger D.
    Characterization of a prenatally diagnosed de novo small supernumerary marker harbouring material of chromosome 16.
    MedGen 2007, Vol. 19, pp 85-86 (Abstractnr.P089).
  433. Bartsch O, Rasi S, Hoffmann K, Blin N.
     FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).
    Eur J Hum Genet. 2005 Mar 9; 13(5): 592-599.
  434. Bartsch O, Loitzsch A, Kozlowski P, Mazauric ML, Hickmann G.
     Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.
    Eur J Hum Genet. 2005; 13(11):1192-1204.
  435. Bryke CR, Garber T, Israel J.
    Evolution of a complex phenotype in a unique patient with a paternal uniparental disomy for every chromosome cell line and a normal biparental inheritance cell line.
    Am J Hum Genet. 2004, 75(Suppl. 1): abstract 831.
  436. Yamanaka M, Ishikawa H, Saito K, Maruyama Y, Ozawa K, Shibasaki J, Nishimura G, Kurosawa K.
     Prenatal findings of paternal uniparental disomy 14: Report of four patients.
    Am J Med Genet A. 2010 Mar;152A(3):789-791.
  437. Ozawa K, Ishikawa H, Maruyama Y, Nagata T, Nagase H, Furuya N, Yoshihashi H, Kurosawa K, Shibazaki J, Yamanaka M.
    A case of prenatally suspected as paternal uniparental disomy 14.
    Jpn J Genet Counsel 2009, 30:19-22.
  438. Kurosawa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T, Matsuo M, Imaizumi K, Kuroki Y, Nishimura G.
     Paternal UPD14 is responsible for a distinctive malformation complex.
    Am J Med Genet. 2002 Jul 1;110(3):268-272.
  439. Manzoni MF, Pramparo T, Stroppolo A, Chiaino F, Bosi E, Zuffardi O, Carrozzo R.
     A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY.
    Clin Genet. 2000 May;57(5):406-408.
  440. Saitoh S, Mutirangura A, Kuwano A, Ledbetter DH, Niikawa N.
     Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions.
    Am J Med Genet. 1994 Mar 1;50(1):64-67.
  441. Niikawa N, Ishikiriyama S.
     Clinical and cytogenetic studies of the Prader-Willi syndrome: evidence of phenotype-karyotype correlation.
    Hum Genet. 1985;69(1):22-27.
  442. Fridman C, Varela MC, Nicholls RD, Koiffmann CP.
     Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q.
    Clin Genet. 1998 Oct;54(4):303-308.
  443. Uematsu A, Yorifuji T, Muroi J, Kawai M, Mamada M, Kaji M, Yamanaka C, Momoi T, Nakahata T.
     Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype.
    Am J Med Genet. 2002 Aug 1;111(2):134-139.
  444. Lin SP, Huang SY, Tu ME, Wu YH, Lin CY, Lin HY, Lee-Chen GJ.
     Netherton syndrome: mutation analysis of two Taiwanese families.
    Arch Dermatol Res. 2007 Jun;299(3):145-150.
  445. Seal JL, Gornick MC, Gogtay N, Shaw P, Greenstein DK, Coffey M, Gochman PA, Stromberg T, Chen Z, Merriman B, Nelson SF, Brooks J, Arepalli S, Wavrant-De Vrièze F, Hardy J, Rapoport JL, Addington AM.
     Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia.
    J Med Genet. 2006 Nov;43(11):887-892.
  446. Zühlke CH, Spranger M, Spranger S, Voigt R, Lanz M, Gehlken U, Hinrichs F, Schwinger E.
     SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.
    Eur J Hum Genet. 2003 Aug;11(8):629-632.
  447. Sensi A, Cavani S, Villa N, Pomponi MG, Fogli A, Gualandi F, Grasso M, Sala E, Pietrobono R, Baldinotti F, Savin E, Ferlini A, Cecconi M, Rossi S, Gallone S, Bellini C, Neri G, Martinoli E, Simi P, Dalprà L, Genuardi M, Dagna-Bricarelli F, Calzolari E.
     Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey.
    Prenat Diagn. 2004 Aug;24(8):647-652.
  448. Flori E, Biancalana V, Girard-Lemaire F, Favre R, Flori J, Doray B, Mandel JL.
     Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.
    Eur J Hum Genet. 2004 Mar;12(3):181-186.
  449. Gutkowska A, Tylki-Szymańska A, Popowska E, Bielińska B, Jurkiewicz D, Krajewska-Walasek M.
     A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient.
    Eur J Med Genet. 2005 Apr-Jun;48(2):207-209.
  450. Baumer A, Basaran S, Taralczak M, Cefle K, Ozturk S, Palanduz S, Schinzel A.
     Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male.
    Cytogenet Genome Res. 2007;118(1):38-41.
  451. Saitoh S, Hosoki K, Takano K, Tonoki H.
     Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.
    Clin Genet. 2007 Oct;72(4):378-380.
  452. Baumer A, Wiedemann U, Hergersberg M, Schinzel A.
     A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.
    Hum Mutat. 2001 May;17(5):423-430.
  453. Valerio G, Franzese A, Palmieri A, Mackay DJ, Gardner RJ, Temple IK.
     Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6.
    J Pediatr Endocrinol Metab. 2001 Jul-Aug;14(7):897-900.
  454. Giurgea I, Sanlaville D, Fournet JC, Sempoux C, Bellanné-Chantelot C, Touati G, Hubert L, Groos MS, Brunelle F, Rahier J, Henquin JC, Dunne MJ, Jaubert F, Robert JJ, Nihoul-Fékété C, Vekemans M, Junien C, de Lonlay P.
     Congenital hyperinsulinism and mosaic abnormalities of the ploidy.
    J Med Genet. 2006 Mar;43(3):248-254.
  455. Surti U, Hoffner L, Kolthoff M, Dunn J, Hunt J, Sniezek L, Macpherson T.
     Persistent gestational trophoblastic disease after an androgenetic/biparental fetal chimera: a case report and review.
    Int J Gynecol Pathol. 2006 Oct;25(4):366-372.
  456. Engel E.
     A new genetic concept: uniparental disomy and its potential effect, isodisomy.
    Am J Med Genet. 1980;6(2):137-143.
  457. Shuman C, Weksberg R, Nedelcu R, Northey A, Scherer S.
    Chromosome 7 uniparental disomy in Silver-Russell syndrome.
    Am J Hum Genet 1996, 59(Suppl):1648.
  458. Dupont JM, Cuisset L, Le Tessier D, Vasseur C, Re´can D, Cartigny M, Despert F, Bougne`re P, Jeanpierre M, Rabineau D.
    Cytogenetic and molecular studies in 32 Silver Russell syndrome patients (SRS).
    Eur J Hum Genet 1998; 6 (Suppl 1):2-113.
  459. European Collaborative Research on Mosaicism in CVS (EUCROMIC).
     Trisomy 15 CPM: probable origins, pregnancy outcome and risk of fetal UPD:
    Prenat Diagn. 1999 Jan;19(1):29-35.
  460. Jay AM, Roberts E, Davies T, Barnes I, Curtis M, Healey K, Davison EV.
     Prenatal testing for uniparental disomy (UPD).
    Prenat Diagn. 2001 Jun;21(6):513.
  461. Pereira CR, Kennedy DL, Maktam E, Rezaie A, Skuterud M, Steer J, Tzountzouris JP, Allingham-Hawkins DJ.
    Uniparental disomy testing in a clinical setting.
    Am J Hum Genet 2000, 67(Suppl 2):1927.
  462. Sánchez JM, Moya G.
     Adding another "hatched pink" chromosome.
    Genet Med. 2002 Mar-Apr;4(2):95.
  463. Félix TM, Tansey MJ, Patil SR, Murray JC, Dagle JM.
     Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome.
    Am J Med Genet A. 2007 Apr 15;143A(8):895-898.
  464. Prando C, Boisson-Dupuis S, Grant AV, Kong XF, Bustamante J, Feinberg J, Chapgier A, Rose Y, Jannière L, Rizzardi E, Zhang Q, Shanahan CM, Viollet L, Lyonnet S, Abel L, Ruga EM, Casanova JL.
     Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.
    Am J Med Genet A. 2010 Mar;152A(3):622-629.
  465. Aviram R, Kidron D, Silverstein S, Lerer I, Abeliovich D, Tepper R, Dolfin Z, Markovitch O, Arnon S.
     Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6.
    Placenta. 2008 Jul;29(7):646-649.
  466. Papenhausen PR, Tepperberg JH, Mowrey PN, Gadi IK, Shah HO, Sherman J, Pulijaal V, Nitowsky H, Sachs G, Lin JH.
    UPD risk assessment: three cytogenetic subgroups.
    Am J Hum Genet 1999, 65: A353 (abstract 1996).
  467. Makrydimas G, Sebire NJ, Thornton SE, Zagorianakou N, Lolis D, Fisher RA.
     Complete hydatidiform mole and normal live birth: a novel case of confined placental mosaicism: case report.
    Hum Reprod. 2002 Sep;17(9):2459-2463.
  468. Surti U, Hill LM, Dunn J, Prosen T, Hoffner L.
     Twin pregnancy with a chimeric androgenetic and biparental placenta in one twin displaying placental mesenchymal dysplasia phenotype.
    Prenat Diagn. 2005 Nov;25(11):1048-1056.
  469. Kaiser-Rogers KA, McFadden DE, Livasy CA, Dansereau J, Jiang R, Knops JF, Lefebvre L, Rao KW, Robinson WP.
     Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia.
    J Med Genet. 2006 Feb;43(2):187-192.
  470. Robinson WP, Lauzon JL, Innes AM, Lim K, Arsovska S, McFadden DE.
     Origin and outcome of pregnancies affected by androgenetic/biparental chimerism.
    Hum Reprod. 2007 Apr;22(4):1114-1122.
  471. Migeon BR, Jeppesen P, Torchia BS, Fu S, Dunn MA, Axelman J, Schmeckpeper BJ, Fantes J, Zori RT, Driscoll DJ.
     Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.
    Am J Hum Genet. 1996 Jan;58(1):161-170.
  472. Neiswanger K, Hohler PM, Hively-Thomas LB, McPherson EW, Hogge WA, Surti U.
     Variable outcomes in mosaic trisomy 16: five case reports and literature analysis.
    Prenat Diagn. 2006 May;26(5):454-461.
  473. Mutter GL.
     Role of imprinting in abnormal human development.
    Mutat Res. 1997 Dec 12;396(1-2):141-147.
  474. Coullin P.
     [From human andro- and parthenogenesis (hydatidiform moles and benign ovarian teratomas) to cancer]
    Gynecol Obstet Fertil. 2005 Jul-Aug;33(7-8):469-482.
  475. Amor DJ, Halliday J.
     A review of known imprinting syndromes and their association with assisted reproduction technologies.
    Hum Reprod. 2008 Dec;23(12):2826-2834.
  476. Betz A, Turleau C, de Grouchy J.
     [Heterozygosity and homozygosity for a pericentric inversion of human chromosome 3]
    Ann Genet. 1974 Jun;17(2):79-80.
  477. Obersztyn E, Helias-Rodzewicz Z, Sobcynska-Tomaszewska A, Bocian E, Mazurczak T.
    Maternal UPD7 in the case of cystic fibrosis.
    Europ J Hum Genet 2002, 10 (Suppl 1):P0286.
  478. Ravine D, Lazarou LP, Fisher PJ, Doull IJM, Mac Donald M, Thompson PW, Gill H, Meredith AL, Clarke A, Little E.
    Uniparental disomy, molecular and social difficulties in interpretation.
    J Med Genet 2000; 37 (Suppl):4.37.
  479. Van der Hagen CB, Eiklid K, Orstavik KH, Braaten O, Prescott T, Kroken M, Husby H, Helbig A, Solberg R.
    Prenatally diagnosed trisomy 9 mosaicism and paternal uniparental disomy 9 in the child.
    Europ J Hum Genet 2003; 11(Suppl):P409.
  480. Kaiser-Rogers KA, Robinson WP, Knops JF, Vargo D, Livasy CA, Bailit J, Rao KW.
    A rare mosaicism for paternal UPD 9 in a dizygotic twin pregnancy.
    Am J Hum Genet 2002, 71(Suppl 4):782.
  481. Kousseff  BG, Gallardo LA, Mueller OT.
    Unusual clinical presentation associated with uniparental disomy of chromosome 10 in a child presymptomatic for multiple endocrine neoplasia type 2A.
    Am J Hum Genet 1992, 51(Suppl):863.
  482. Blayau M. Odent S, Dubourg C, Dabadie A, David V.
    Alpha 1-antitrypsin deficiency due to maternal uniparental disomy for chromosome 14.
    Europ J Hum Genet 2002; 10 (Suppl 1):P0974.
  483. Duba H, Silye R, Hayba¨ck J, Janecke A, Gu¨nther B, Arzt W.
    Maternal isodisomy 22 in a fetus with malformations.
    Europ J Hum Genet 2003; 11(Suppl):P416.
  484. Desilets VA, Yong SL, Langlois S, Wilson RD, Kalousek DK, Pantzar TJ.
    Trisomy 22 mosaicism and maternal uniparental disomy.
    Am J Hum Genet 1996; 59(Suppl):1859.
  485. Crowe CA, Schwartz S, Black CJ, Jaswaney V.
     Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes.
    Am J Med Genet. 1997 Sep 5;71(4):406-413.
  486. Bulli C, Battistella PA, Bordignon M, Bramanti P, Novelli G, Sangiuolo F.
     Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report.
    Cases J. 2009 Apr 29;2:7111.
  487. Lecumberri B, Fernandez-Rebollo E, Sentchordi L, Saavedra P, Bernal-Chico A, Pallardo LF, Jimenez Bustos JM, Castano L, De Santiago M, Hiort O, Perez de Nanclares G, Bastepe M.
     Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
    J Med Genet. 2010 Apr;47(4):276-280.
  488. López-Garrido MP, Campos-Mollo E, Harto MA, Escribano J.
     Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.
    Clin Genet. 2009 Dec;76(6):552-557.
  489. Girardin CM, Deal C, Lemyre E, Paquette J, Lumbroso R, Beitel LK, Trifiro MA, Van Vliet G.
     Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype.
    J Pediatr. 2009 Sep;155(3):439-443.
  490. Hamvas A, Nogee LM, Wegner DJ, Depass K, Christodoulou J, Bennetts B, McQuade LR, Gray PH, Deterding RR, Carroll TR, Kammesheidt A, Kasch LM, Kulkarni S, Cole FS.
     Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.
    J Pediatr. 2009 Dec;155(6):854-859.e1.
  491. Aktas D, Weise A, Utine E, Alehan D, Mrasek K, von Eggeling F, Thieme H, Tuncbilek E, Liehr T.
     Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report.
    Mol Cytogenet. 2009 Jun 30;2:14.
  492. Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJ, Steichen E, Meraner D, Zimmerhackl LB, Hattersley AT, Ellard S, Hofer S.
     Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.
    Pediatr Diabetes. 2010 Feb;11(1):18-23.
  493. Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S, Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E, Bassi MT.
     A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
    Hum Mutat. 2009 Jul;30(7):1104-1116.
  494. Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V.
     A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
    Eur J Hum Genet. 2009 Mar;17(3):395-400.
  495. Callahan N, Modesto A, Deeley K, Meira R, Vieira AR.
     Transforming growth factor-alfa gene (TGFA), human tooth agenesis, and evidence of segmental uniparental isodisomy.
    Eur J Oral Sci. 2009 Feb;117(1):20-26.
  496. Schimmel U.
     Long-standing sulfonylurea therapy after pubertal relapse of neonatal diabetes in a case of uniparental paternal isodisomy of chromosome 6.
    Diabetes Care. 2009 Jan;32(1):e9.
  497. Stankiewicz P, Kuechler A, Eller CD, Sahoo T, Baldermann C, Lieser U, Hesse M, Gläser C, Hagemann M, Yatsenko SA, Liehr T, Horsthemke B, Claussen U, Marahrens Y, Lupski JR, Hansmann I.
     Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.
    Am J Med Genet A. 2006 Mar 1;140(5):442-452.
  498. Chang JG, Tsai WC, Chong IW, Chang CS, Lin CC, Liu TC.
     {beta}-thalassemia major evolution from {beta}-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15.
    Haematologica. 2008 Jun;93(6):913-916.
  499. Castori M, Floriddia G, Pisaneschi E, Covaciu C, Paradisi M, Torrente I, Castiglia D.
     Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.
    J Dermatol Sci. 2008 Jul;51(1):58-61.
  500. Yamada T, Matsuda T, Kudo M, Yamada T, Moriwaki M, Nishi S, Ebina Y, Yamada H, Kato H, Ito T, Wake N, Sakuragi N, Minakami H.
     Complete hydatidiform mole with coexisting dichorionic diamniotic twins following testicular sperm extraction and intracytoplasmic sperm injection.
    J Obstet Gynaecol Res. 2008 Feb;34(1):121-124.
  501. Stone EM.
     Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
    Am J Ophthalmol. 2007 Dec;144(6):791-811.
  502. Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH.
     Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.
    Am J Hum Genet. 2007 Nov;81(5):906-912.
  503. Yellore VS, Sonmez B, Chen MC, Rayner SA, Thonar EJ, Aldave AJ.
     An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation.
    Ophthalmic Genet. 2007 Sep;28(3):169-174.
  504. Hon KL, Burd A, Choi PC, Luk NM.
     Epidermolysis bullosa in three Chinese neonates.
    J Dermatolog Treat. 2007;18(5):306-311.
  505. Goh DL, Zhou Y, Chong SS, Ngiam NS, Goh DY.
     Novel CFTR gene mutation in a patient with CBAVD.
    J Cyst Fibros. 2007 Nov 30;6(6):423-425.
  506. Ting JC, Ye Y, Thomas GH, Ruczinski I, Pevsner J.
     Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan.
    BMC Bioinformatics. 2006 Jan 18;7:25.
  507. Hussain K, Cosgrove KE, Shepherd RM, Luharia A, Smith VV, Kassem S, Gregory JW, Sivaprasadarao A, Christesen HT, Jacobsen BB, Brusgaard K, Glaser B, Maher EA, Lindley KJ, Hindmarsh P, Dattani M, Dunne MJ.
     Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels.
    J Clin Endocrinol Metab. 2005 Jul;90(7):4376-4382.
  508. Nakamura H, Sawamura D, Goto M, Nakamura H, McMillan JR, Park S, Kono S, Hasegawa S, Paku S, Nakamura T, Ogiso Y, Shimizu H.
     Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).
    J Mol Diagn. 2005 Feb;7(1):28-35.
  509. Latronico AC, Billerbeck AE, Pinto EM, Brazil D'Alva C, Arnhold IJ, Mendonca BB.
     Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty.
    Clin Endocrinol (Oxf). 2003 Oct;59(4):533-534.
  510. Metz C, Cavé H, Bertrand AM, Deffert C, Gueguen-Giroux B, Czernichow P, Polak M; NDM French Study Group. Neonatal diabetes mellitus.
     Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases.
    J Pediatr. 2002 Oct;141(4):483-489.
  511. Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A.
     Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
    Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4293-4299.
  512. Bakker B, Bikker H, Vulsma T, de Randamie JS, Wiedijk BM, De Vijlder JJ.
     Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).
    J Clin Endocrinol Metab. 2000 Oct;85(10):3708-3712.
  513. Algar EM, Deeble GJ, Smith PJ.
     CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance.
    J Med Genet. 1999 Jul;36(7):524-531.
  514. Jacobsen J, King BH, Leventhal BL, Christian SL, Ledbetter DH, Cook EH Jr.
     Molecular screening for proximal 15q abnormalities in a mentally retarded population.
    J Med Genet. 1998 Jul;35(7):534-538.
  515. Nuytinck L, Dalgleish R, Spotila L, Renard JP, Van Regemorter N, De Paepe A.
     Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.
    Hum Genet. 1996 Mar;97(3):324-329.
  516. Spotila LD, Constantinou CD, Sereda L, Ganguly A, Riggs BL, Prockop DJ.
     Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
    Proc Natl Acad Sci U S A. 1991 Jun 15;88(12):5423-5427.
  517. Lurie IW, Schwartz MF, Schwartz S, Cohen MM.
     Trisomy 7p resulting from isochromosome formation and whole-arm translocation.
    Am J Med Genet. 1995 Jan 2;55(1):62-66.
  518. Ferrier RA, Lowry RB, Lemire EG, Stoeber GP, Howard J, Parboosingh JS.
     Father-to-son transmission of an X-linked gene: a case of paternal sex chromosome heterodisomy.
    Am J Med Genet A. 2009 Dec;149A(12):2871-2873.
  519. Vasudevan PC, Quarrell OW.
     Prader-Willi and Klinefelter syndrome: a coincidence or not?
    Clin Dysmorphol. 2007 Apr;16(2):127-129.
  520. Moradkhani K, Puechberty J, Blanchet P, Coubes C, Lallaoui H, Lewin P, Lefort G, Sarda P.
     Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms.
    Prenat Diagn. 2006 Dec;26(12):1179-1182.
  521. Flori E, Girodon E, Samama B, Becmeur F, Viville B, Girard-Lemaire F, Doray B, Schluth C, Marcellin L, Boehm N, Goossens M, Pingault V.
     Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.
    Eur J Hum Genet. 2005 Sep;13(9):1013-1038.
  522. de Ravel TJ, Keymolen K, van Assche E, Wittevronghel I, Moerman P, Salden I, Matthijs G, Fryns JP, Vermeesch JR.
     Post-zygotic origin of isochromosome 12p.
    Prenat Diagn. 2004; 24(12):984-988.
  523. Vgontzas AN, Kales A, Seip J, Mascari MJ, Bixler EO, Myers DC, Vela-Bueno AV, Rogan PK.
     Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome.
    Am J Med Genet. 1996 Sep 20;67(5):478-482.
  524. Christian SL, Smith AC, Macha M, Black SH, Elder FF, Johnson JM, Resta RG, Surti U, Suslak L, Verp MS, Ledbetter DH.
     Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism.
    Prenat Diagn. 1996 Apr;16(4):323-332.
  525. Kokkonen H, Kähkönen M, Leisti J.
     A molecular and cytogenetic study in Finnish Prader-Willi patients.
    Hum Genet. 1995 May;95(5):568-571.
  526. Skuse DH, James RS, Bishop DV, Coppin B, Dalton P, Aamodt-Leeper G, Bacarese-Hamilton M, Creswell C, McGurk R, Jacobs PA.
     Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.
    Nature. 1997 Jun 12;387(6634):705-708.
  527. Gardner RJ, Sutherland GR.
    Chromosome abnormalities and genetic counseling.
    Oxford University Press, 2004, p330.
  528. Smith A, Marks R, Haan E, Dixon J, Trent RJ.
     Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.
    J Med Genet. 1997 May;34(5):426-429.
  529. Zackai EH, McDonald-McGinn DM, Bason L, Bikngham P, Pellegrino J, Biegel J, Wolff DJ, Younkin D, Chance PF, Spinner NB.
    Molecular genetics gudes clinical geneticist: bedside to bensch-now a two way street.
    Am J Hum Genet 1995; 57:A106 (abstract 587).
  530. Harpey JP, Heron D, Prudent M, Lesourd S, Henry I, Royer-Legrain G, Munnich A, Bonnefont JP.
     Recurrent meiotic nondisjunction of maternal chromosome 15 in a sibship.
    Am J Med Genet. 1998 Feb 26;76(1):103-104.
  531. Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze A, Brondum-Nielsen K, Christian SL, Ledbetter DH, Schinzel AA, Horsthemke B, Schuffenhauer S, Michaelis RC, Langlois S, Hassold TJ.
     Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.
    Hum Mol Genet. 1998 Jun;7(6):1011-1019.
  532. Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Malcolm S, Morris MA, Schinzel AA.
     Nondisjunction of chromosome 15: origin and recombination.
    Am J Hum Genet. 1993 Sep;53(3):740-751.
  533. Robinson WP.
     Mechanisms leading to uniparental disomy and their clinical consequences.
    Bioessays. 2000 May;22(5):452-459.
  534. Peñaherrera MS, Weindler S, Van Allen MI, Yong SL, Metzger DL, McGillivray B, Boerkoel C, Langlois S, Robinson WP.
     Methylation profiling in individuals with Russell-Silver syndrome.
    Am J Med Genet A. 2010 Feb;152A(2):347-355.
  535. Poyatos D, Camprubí C, Gabau E, Nosas R, Villatoro S, Coll MD, Guitart M.
     [Prader Willi syndrome patients: study of 77 patients]
    Med Clin (Barc). 2009 Nov 7;133(17):649-656.
  536. Holsen LM, Zarcone JR, Chambers R, Butler MG, Bittel DC, Brooks WM, Thompson TI, Savage CR.
     Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome.
    Int J Obes (Lond). 2009 Feb;33(2):273-283.
  537. Russel LJ, Bialer MG, Kelly TE.
    Sequencial meiotic non-disjunction in 49,XXXXY and 48,XXYY: confirmation using RFLPs.
    Am J Hum Genet 1989; 45: A89.
  538. Hassold T, Pettay D, May K, Robinson A.
     Analysis of non-disjunction in sex chromosome tetrasomy and pentasomy.
    Hum Genet. 1990 Oct;85(6):648-650.
  539. Deng HX, Abe K, Kondo I, Tsukahara M, Inagaki H, Hamada I, Fukushima Y, Niikawa N.
     Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs.
    Hum Genet. 1991 Apr;86(6):541-544.
  540. Villamar M, Benitez J, Fernández E, Ayuso C, Ramos C.
     Parental origin of chromosomal nondisjunction in a 49,XXXXY male using recombinant-DNA techniques.
    Clin Genet. 1989 Sep;36(3):152-155.
  541. Plaha DS, Duckett DP, Collacott RA, Young ID.
     Origin of the X chromosomes in a patient with the 49,XXXXY syndrome.
    J Med Genet. 1990 Mar;27(3):203-204.
  542. Huang TH, Greenberg F, Ledbetter DH.
     Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences.
    Hum Genet. 1991 Apr;86(6):619-620.
  543. Abdelhedi F, Lebbar A, Cuisset L, Tsatsaris V, Viot G, Menard A, Sauto J, Druart L, Dupont JM.
    Neonatal Silver-Russell syndrome with the unique combination of maternal UPD 7 and mosaic trisomy 7.
    Europ J Hum Genet 2010, Vol 18 Suppl 1: 159 (Abstractnr. P05.59).
  544. Ginglinger E, Montoya E, Cordier C, Jeandidier E.
    Confined placental mosaicism of 22 trisomy with normal prenatal echosonography and normal eutrophic babyborn : trisomy rescue demonstrated by presence of fetal uniparental isodisomy.
    Europ J Hum Genet 2010, Vol 18 Suppl 1: 162 (Abstractnr. P05.70).
  545. Rodríguez-Santiago B, Malats N, Rothman N, Armengol L, Garcia-Closas M, Kogevinas M, Villa O, Hutchinson A, Earl J, Marenne G, Jacobs K, Rico D, Tardón A, Carrato A, Thomas G, Valencia A, Silverman D, Real FX, Chanock SJ, Pérez-Jurado LA.
     Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.
    Am J Hum Genet. 2010 Jul 9;87(1):129-138.
  546. Manoli I, Golas G, Westbroek W, Vilboux T, Markello TC, Introne W, Maynard D, Pederson B, Tsilou E, Jordan MB, Hart PS, White JG, Gahl WA, Huizing M.
     Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
    Am J Med Genet A. 2010 Jun;152A(6):1474-1483.
  547. Estrada Veras JI, Markello TC, Tifft CJ.
    A normal appearing child with developmental delay and uniparental maternal disomy for all of chromosome 21 including a region of isodisomy.() (5:00PM-6:00PM on Wed)
    ASHG 2010; abstract 1303 - only online.
  548. Mucha-Le Ny BE, Kalish JM, Spinner NB, Zackai EH, Conlin LK.
    Paternal UPD14 diagnosed by whole genome array: clinical and radiological features.
    ASHG 2010; abstract 782 - only online.
  549. Harteveld CL, Rifaldi C, Giambona A,. Ruivenkamp C, Hoffer M, Borgnia-Pignatti C, Maggio A, Cappellini M, Giordano PC.
    Uniparental disomy and progressive clonal selection a common mechanism causing late onset β-thalassemia major?
    ASHG 2010; abstract 2383 - only online.
  550. Nagai T, Matsubara K, Ogata T, Obata K, Sakazume S, Kido Y, Murakami N.
    Advanced maternal age increases the proportion of UPD in Prader-Willi syndrome.
    ASHG 2010; abstract 926 - only online.
  551. Whittington JE, Butler JV, Holland AJ.
     Changing rates of genetic subtypes of Prader-Willi syndrome in the UK.
    Eur J Hum Genet. 2007 Jan;15(1):127-130.
  552. Chen CP, Lin HM, Su YN, Chern SR, Tsai FJ, Wu PC, Lee CC, Chen YT, Lee MS, Pan CW, Wang W.
     Mosaic Trisomy 9 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses.
    Taiwan J Obstet Gynecol. 2010 Sep;49(3):341-350.
  553. Dawson A, Chernos J, McGowan-Jordan J, Lavoie J, Shetty S, Steinraths M, Jia-Chi W, Xu J.
     CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy.
    Clin Genet. 2011 Feb;79(2):118-124.
  554. Bastepe M, Altug-Teber O, Agarwal C, Oberfield SE, Bonin M, Jüppner H.
     Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib).
    Bone. 2011 Mar 1;48(3):659-662.
  555. Ismail D, Smith VV, de Lonlay P, Ribeiro MJ, Rahier J, Blankenstein O, Flanagan SE, Bellanné-Chantelot C, Verkarre V, Aigrain Y, Pierro A, Ellard S, Hussain K.
     Familial Focal Congenital Hyperinsulinism.
    J Clin Endocrinol Metab. 2011 Jan;96(1):24-28.
  556. Toutain J, Labeau-Gaüzere C, Barnetche T, Horovitz J, Saura R.
     Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3.
    Prenat Diagn. 2010 Dec;30(12-13):1155-1164.
  557. Anesi L, de Gemmis P, Pandolfo M, Hladnik U.
     Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.
    J Mol Neurosci. 2011 Mar;43(3):346-349.
  558. Fernández-Rebollo E, Lecumberri B, Garin I, Arroyo J, Bernal-Chico A, Goñi F, Orduña R; Spanish PHP Group, Castaño L, Pérez de Nanclares G.
     New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism.
    Eur J Endocrinol. 2010 Dec;163(6):953-962.
  559. Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU.
     A neurodevelopmental survey of angelman syndrome with genotype-phenotype correlations.
    J Dev Behav Pediatr. 2010 Sep;31(7):592-601.
  560. Dubé V, Chun K, Osborne R, Sherman C, Nofech-Mozes S, Ismiil N, Saad RS, Khalifa MA.
     Androgenetic complete mole with trisomy 13: report of a case with microsatellite genotyping and review of the literature.
    Pathol Res Pract. 2010 Nov 15;206(11):776-781.
  561. Maas AP, Sinnema M, Didden R, Maaskant MA, Smits MG, Schrander-Stumpel CT, Curfs LM.
     Sleep disturbances and behavioural problems in adults with Prader-Willi syndrome.
    J Intellect Disabil Res. 2010 Oct;54(10):906-917.
  562. Sinnema M, van Roozendaal KE, Maaskant MA, Smeets HJ, Engelen JJ, Jonker-Houben N, Schrander-Stumpel CT, Curfs LM.
     Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly.
    Eur J Hum Genet. 2010 Sep;18(9):993-998.
  563. Swensen JJ, Agarwal AM, Esquilin JM, Swierczek S, Perumbeti A, Hussey D, Lee M, Joiner CH, Pont-Kingdon G, Lyon E, Prchal JT.
     Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait.
    Blood. 2010 Oct 14;116(15):2822-2825.
  564. Yamazawa K, Nakabayashi K, Kagami M, Sato T, Saitoh S, Horikawa R, Hizuka N, Ogata T.
     Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.
    J Med Genet. 2010 Nov;47(11):782-785.
  565. Stark Z, Ryan MM, Bruno DL, Burgess T, Savarirayan R.
     Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.
    Am J Med Genet A. 2010 Sep;152A(9):2342-2345.
  566. Sharp AJ, Migliavacca E, Dupre Y, Stathaki E, Sailani MR, Baumer A, Schinzel A, Mackay DJ, Robinson DO, Cobellis G, Cobellis L, Brunner HG, Steiner B, Antonarakis SE.
     Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.
    Genome Res. 2010 Sep;20(9):1271-1278.
  567. Natsuga K, Nishie W, Arita K, Shinkuma S, Nakamura H, Kubota S, Imakado S, Akiyama M, Shimizu H.
     Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia.
    J Invest Dermatol. 2010 Nov;130(11):2671-2674.
  568. Irving MD, Buiting K, Kanber D, Donaghue C, Schulz R, Offiah A, Mohammed SN, Oakey RJ.
     Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.
    Am J Med Genet A. 2010 Aug;152A(8):1942-1950.
  569. Kagami M, O'Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T.
     The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers.
    PLoS Genet. 2010 Jun 17;6(6):e1000992.
  570. Salahshourifar I, Halim AS, Sulaiman WA, Zilfalil BA.
     Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated cleft lip and palate.
    Am J Med Genet A. 2010 Jul;152A(7):1818-1821.
  571. Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N.
     Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.
    Am J Med Genet A. 2010 Jul;152A(7):1812-1817.
  572. Baskin B, Geraghty M, Ray PN.
     Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
    Am J Med Genet A. 2010 Jul;152A(7):1808-1811.
  573. Faas BH, van der Burgt I, Kooper AJ, Pfundt R, Hehir-Kwa JY, Smits AP, de Leeuw N.
     Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis.
    J Med Genet. 2010 Sep;47(9):586-594.
  574. Eggermann T, Begemann M, Binder G, Spengler S.
     Silver-Russell syndrome: genetic basis and molecular genetic testing.
    Orphanet J Rare Dis. 2010 Jun 23;5:19.
  575. Castanet M, Mallya U, Agostini M, Schoenmakers E, Mitchell C, Demuth S, Raymond FL, Schwabe J, Gurnell M, Chatterjee VK.
     Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.
    J Clin Endocrinol Metab. 2010 Aug;95(8):4031-4036.
  576. Castanet M, Polak M.
     Spectrum of Human Foxe1/TTF2 Mutations.
    Horm Res Paediatr. 2010;73(6):423-429.
  577. Wakeling EL, Amero SA, Alders M, Bliek J, Forsythe E, Kumar S, Lim DH, MacDonald F, Mackay DJ, Maher ER, Moore GE, Poole RL, Price SM, Tangeraas T, Turner CL, Van Haelst MM, Willoughby C, Temple IK, Cobben JM.
     Epigenotype-phenotype correlations in Silver-Russell syndrome.
    J Med Genet. 2010 Nov;47(11):760-768.
  578. Ivanov PL, Bin'ko IA, Orekhov VA.
     [An unusual case of investigation into the child's disputable descent complicated by manifestation of a rare genomic mutation (disomy)]
    Sud Med Ekspert. 2010 Jan-Feb;53(1):38-43. Russian.
  579. Lennerz JK, Timmerman RJ, Grange DK, DeBaun MR, Feinberg AP, Zehnbauer BA.
     Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.
    J Mol Diagn. 2010 Sep;12(5):576-588.
  580. Loechner KJ, Akrouh A, Kurata HT, Dionisi-Vici C, Maiorana A, Pizzoferro M, Rufini V, de Ville de Goyet J, Colombo C, Barbetti F, Koster JC, Nichols CG.
     Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: KATP channel inactivation mechanism and clinical management.
    Diabetes. 2011 Jan;60(1):209-217.
  581. Glaser B, Ryan F, Donath M, Landau H, Stanley CA, Baker L, Barton DE, Thornton PS.
     Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene.
    Diabetes. 1999 Aug;48(8):1652-1657.
  582. Gümüş H, Ghesquiere S, Per H, Kondolot M, Ichida K, Poyrazoğlu G, Kumandaş S, Engelen J, Dundar M, Cağlayan AO.
     Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.
    Dev Med Child Neurol. 2010 Sep;52(9):868-872.
  583. Suzuki S, Fujisawa D, Hashimoto K, Asano T, Maimaiti M, Matsuo K, Tanahashi Y, Mukai T, Fujieda K.
     Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia.
    Clin Genet. 2010 Dec;78(6):580-584.
  584. Schinzel A.
    Catalogue of unbalanced chromosome aberrations in man.
    De Gruyter, 2001:19-22.
  585. Bellon-Harn ML.
     Clinical management of a child with Prader-Willi Syndrome from maternal uniparental disomy (UPD) genetic inheritance.
    J Commun Disord. 2005 Nov-Dec;38(6):459-472.
  586. Dudley O, Muscatelli F.
     Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder.
    Early Hum Dev. 2007 Jul;83(7):471-478.
  587. Beardsmore A, Dorman T, Cooper SA, Webb T.
     Affective psychosis and Prader-Willi syndrome.
    J Intellect Disabil Res. 1998 Dec;42 (Pt 6):463-471.
  588. Descheemaeker MJ, Vogels A, Govers V, Borghgraef M, Willekens D, Swillen A, Verhoeven W, Fryns JP.
     Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum.
    J Intellect Disabil Res. 2002 Jan;46(Pt 1):41-50.
  589. Dykens EM, Cassidy SB.
     Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome.
    Am J Med Genet. 1995 Dec 18;60(6):546-549.
  590. Veltman MW, Thompson RJ, Roberts SE, Thomas NS, Whittington J, Bolton PF.
     Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders.
    Eur Child Adolesc Psychiatry. 2004 Feb;13(1):42-50.
  591. Hou JW, Wang TR, Chuang SM.
     An epidemiological and aetiological study of children with intellectual disability in Taiwan.
    J Intellect Disabil Res. 1998 Apr;42 (Pt 2):137-143.
  592. Veltman MW, Craig EE, Bolton PF.
     Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review.
    Psychiatr Genet. 2005 Dec;15(4):243-254.
  593. Ceylaner G, Ceylaner S, Danişman N, Ergün A, Ekici E, Schinzel A, Baumer A.
     Chromosomal heteromorphisms may help for the diagnosis of uniparental disomy (UPD): a case report.
    Prenat Diagn. 2007 Nov;27(11):1072-1074.
  594. Vendrame M, Maski KP, Chatterjee M, Heshmati A, Krishnamoorthy K, Tan WH, Kothare SV.
     Epilepsy in Prader-Willi syndrome: Clinical characteristics and correlation to genotype.
    Epilepsy Behav. 2010 Nov;19(3):306-310.
  595. Bonanni P, Gobbo A, Nappi S, Moret O, Nogarol A, Santin M, Randazzo G, Martinuzzi A.
     Functioning and disability in patients with Angelman syndrome: utility of the International Classification of functioning disability and health, children and youth adaptation framework.
    Disabil Rehabil. 2009;31 Suppl 1:S121-S127.
  596. Schuetzle MN, Uphoff TS, Hatten BA, Dawson DB.
     Utility of microsatellite analysis in evaluation of pregnancies with placental mesenchymal dysplasia.
    Prenat Diagn. 2007 Dec;27(13):1238-1244.
  597. Slater HR, Bailey DK, Ren H, Cao M, Bell K, Nasioulas S, Henke R, Choo KH, Kennedy GC.
     High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.
    Am J Hum Genet. 2005 Nov;77(5):709-726. Erratum in: Am J Hum Genet. 2006 Mar;78(3):526.
  598. Dimitropoulos A, Schultz RT.
     Autistic-like symptomatology in Prader-Willi syndrome: a review of recent findings.
    Curr Psychiatry Rep. 2007 Apr;9(2):159-164.
  599. Milner KM, Craig EE, Thompson RJ, Veltman MW, Thomas NS, Roberts S, Bellamy M, Curran SR, Sporikou CM, Bolton PF.
     Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.
    J Child Psychol Psychiatry. 2005 Oct;46(10):1089-1096.
  600. Lewis BA, Freebaim L, Heeger S, Cassady SB.
    Speech and language skills of individuals with Prader-Willi syndrome.
    Am J Speech-Language Pathol 2002; 11:285-294.
  601. Schejbel L, Schmidt IM, Kirchhoff M, Andersen CB, Marquart HV, Zipfel P, Garred P.
     Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation.
    Genes Immun. 2011 Mar;12(2):90-99.
  602. Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura KI, Harada N.
     Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.
    Clin Genet. 2011 Nov;80(5):478-483.
  603. Yamazawa K, Nakabayashi K, Matsuoka K, Masubara K, Hata K, Horikawa R, Ogata T.
     Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.
    J Hum Genet. 2011 Jan;56(1):91-93.
  604. Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P.
     Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
    Eur J Hum Genet. 2011 Apr;19(4):416-421.
  605. Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Sugiura-Ogasawara M.
     Prenatal findings of paternal uniparental disomy 14: Delineation of further patient.
    Am J Med Genet A. 2010 Dec;152A(12):3189-3192.
  606. Yang XY, Zou LP, Song F, Zhang LP, Zheng H, Wu HS, Xiao J.
     [Clinical manifestation and EEG characteristics of Angelman syndrome].
    Zhonghua Er Ke Za Zhi. 2010 Oct;48(10):783-786. Chinese.
  607. Hou A, Lin SP, Ho SY, Chen CF, Lin HY, Chen YJ, Huang CY, Chiu HC, Chuang CK, Chen KS.
     Genetic studies of prader-willi patients provide evidence for conservation of genomic architecture in proximal chromosome 15q.
    Ann Hum Genet. 2011 Mar;75(2):211-221.
  608. Petit F, Holder-Espinasse M, Duban-Bedu B, Bouquillon S, Boute-Benejean O, Bazin A, Rouland V, Manouvrier-Hanu S, Delobel B.
     Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.
    Clin Genet. 2012 Mar;81(3):265-271.
  609. Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P.
     Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
    Eur J Hum Genet. 2011 Apr;19(4):416-421.
  610. Morales C, Soler A, Badenas C, Rodríguez-Revenga L, Nadal A, Martínez JM, Mademont-Soler I, Borrell A, Milà M, Sánchez A.
     Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes.
    Fertil Steril. 2009 Jul;92(1):393.e5-e9.
  611. Behnecke A, Janssen JWG, Hinderhofer K, Jauch A, Moog U.
    Familial reciprocal translocation t(7;13) associated with maternal uniparental disomy 7 in a Silver-Russel-patient.
    MedGen 2011, 23(1):100-101.
  612. Werner M, Ben-Neriah Z, Silverstein S, Lerer I, Dagan Y, Abeliovich D.
     A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy.
    Am J Med Genet. 2004 Aug 30;129A(2):176-179.
  613. Kariminejad A, Kariminejad R, Moshtagh A, Zanganeh M, Kariminejad MH, Neuenschwander S, Okoniewski M, Wey E, Schinzel A, Baumer A.
     Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.
    Eur J Hum Genet. 2011 May;19(5):555-560.
  614. Cottrell CE, Mendell J, Hart-Kothari M, Ell D, Thrush DL, Astbury C, Pastore M, Gastier-Foster JM, Pyatt R.
     Maternal uniparental disomy of chromosome 4 in a patient with limb girdle muscular dystrophy 2E confirmed by SNP array technology.
    Clin Genet. 2012 Jun;81(6):578-583.
  615. Sinnema M, Boer H, Collin P, Maaskant MA, van Roozendaal KE, Schrander-Stumpel CT, Curfs LM.
     Psychiatric illness in a cohort of adults with Prader-Willi syndrome.
    Res Dev Disabil. 2011 Sep-Oct;32(5):1729-1735.
  616. Mussa A, Ferrero GB, Ceoloni B, Basso E, Chiesa N, De Crescenzo A, Pepe E, Silengo M, de Sanctis L.
     Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome.
    Eur J Pediatr. 2011 Nov;170(11):1407-1411.
  617. Miyazaki O, Nishimura G, Kagami M, Ogata T.
     Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14.
    Pediatr Radiol. 2011 Aug;41(8):1013-1019.
  618. Michieletto P, Bonanni P, Pensiero S.
     Ophthalmic findings in Angelman syndrome.
    J AAPOS. 2011 Apr;15(2):158-161.
  619. Papenhausen P, Schwartz S, Risheg H, Keitges E, Gadi I, Burnside RD, Jaswaney V, Pappas J, Pasion R, Friedman K, Tepperberg J.
     UPD detection using homozygosity profiling with a SNP genotyping microarray.
    Am J Med Genet A. 2011 Apr;155(4):757-768.
  620. Sinnema M, Schrander-Stumpel CTRM, Maaskant AM, Curfs LMG.l
    Ageing in Prader-Willi syndrome: Twelve persons over the age of 50 years.
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 24 (Abstractnr. C02.4)
  621. Jongmans MCJ, Kuiper R, Heijdra Y, Vulliamy T, Kamping E, BongersE, van Leeuwen F, van Gassen K, van Krieken H, Geurts van Kessel A, Dokal I, Ligtenberg M, Hoogerbrugge N.
    Revertant somatic mosaicism in Dyskeratosis Congenita by mitotic recombination.
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p (Abstractnr. C04.5)
  622. Tańska A, Ciara E, Marczak-Hałupka A, Kugaudo M, Kalina M, Jurkiewicz D, Borucka-Mankiewicz M, Kowalski P, Łuczak S, Pelc M, Piekutowska-Abramczuk D, Trubicka J, Krajewska-Walasek M, ChrzanowskaK.
    Molecular investigations of Polish patients with Silver-Russell syndrome
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 121 (Abstractnr. P02.226)
  623. Platzer K, Stefanova I, Buiting K, Purmann S, Gillessen-Kaesbach G.
    A six year old boy with Temple syndrome due to segmental maternal uniparental disomy 14 and clinical features of Prader Willi syndrome.
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 123 (Abstractnr. P02.234)
  624. Kuhn KE, Essop F, Krause A.
    Paternal uniparental disomy (UPD) 14 is an important cause of infantile hypotonia in a South African cohort.
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 125 (Abstractnr. P02.241)
  625. Kolotii AD, Vorsanova SG, Voinova VY, Kurinnaia OS, Demidova IA, Beresheva AK, Kravets VS, Soloviev IV, Yurov YB, Iourov IY.
    Rare case of 46,X,idic(X)(p11.2)/46,XX mosaicism in an autistic child with developmental delay: a karyotypic marker of X chromosome isodisomy and an X-linked mutation.
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p (Abstractnr. P03.098)
  626. Matsubara K, Murakami N, Sakazume S, Ooto Y, Ogata T, Nagai T.
    Risk assessment of ART and its related factors in the development of Prader - Willi syndrome
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 167 (Abstractnr. P04.35)
  627. Meddeb R, Trabelsi M, Chaabouni M, Laaribi Y, Maazoul F, Ouertani I, Ben Jemaa L, Khouja N, Fdhila F, Bouhamed Chaabouni H, Mrad R.
    Molecular analysis of Prader-Willi and Angelman syndromes: A study of twenty Tunisian patients
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 260 (Abstractnr. P08.58)
  628. Matsubara K, Murakami N, Nagai T, Ogata T.
     Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors.
    J Hum Genet. 2011 Aug;56(8):566-571.
  629. Vardi O, Davidovitch M, Vinkler C, Michelson M, Lerman-Sagie T, Lev D.
     Autistic regression in a child with Silver-Russell Syndrome and maternal UPD 7.
    Eur J Paediatr Neurol. 2012 Jan;16(1):95-98.
  630. Boisseau P, Giraud M, Ternisien C, Veyradier A, Fressinaud E, Lefrancois A, Bezieau S, Fouassier M.
     An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12.
    Haematologica. 2011 Oct;96(10):1567-1568.
  631. Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, Surti U.
     Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.
    Am J Med Genet A. 2011 Aug;155(8):1996-2002.
  632. Ceballos-Picot I, Guest G, Moriniere V, Mockel L, Daudon M, Malan V, Antignac C, Heidet L.
     Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.
    Clin Genet. 2011 Aug;80(2):199-201.
  633. Schaaf CP, Wiszniewska J, Beaudet AL.
     Copy number and SNP arrays in clinical diagnostics.
    Annu Rev Genomics Hum Genet. 2011 Sep 22;12:25-51.
  634. Moreira MC, Quaio CRDC, Gomy I, Ino A, Ceccon ME, Della Manna T, Morgante AV, Bertola DR, Kim CA.
    Transient neonatal diabetes: case report of a long term follow-up.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1008W.
  635. Christacos N, Schonberg S, Dai Z, Boles D, Kelly J, Solvak ML, Burks K, Simanivanh T, Mowrey P.
    IsoUPD as a mechanism of fetal rescue detected by Oligo-SNP array.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1269W.
  636. Ozgon G, Fejzullahu A, Senvardar K, Biricik A, Fiorentino F.
    Preimplantation genetic diagnosis based detection of uiniparental disomy on embryos undergoing IVF.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1399W.
  637. Matsubara K, Murakami N, Sakazume S, Oto Y, Nagai T, Ogata T.
    Risk assessment of ART and its related factors in the development of Prader-Willi syndrome.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1464W.
  638. Kim GH, Lee BH, Lee JJ, Choi SH, Lee JY, Yoo HW.
    Detection of epigenetic defects in Korean patients with Beckwith Wiedemann syndrome and Silver-Russell syndrome.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 746T
  639. Fuke-Sato T, Yamazawa K, Matsubara K, Kagami M, Nakabayashi K, Hata K, Ogata T.
    Silver-Russell Syndrome : Phenotypic comparison between patients with H19-DMR epimutations and those with upd(7)mat, and 3 unique cases of SRS.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 759T.
  640. Baskin B, Choufani S, Shuman C, Parkinson N, Lemyre E, Ray PN, Weksberg R.
    High frequency of Copy Number Variants (CNVs) in the chromosome 11p15.5 region in patients with Beckwith-Wiedemann syndrome.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1018T.
  641. Pickering Dl, Dave BJ, Carstens JM, Papugani A, Olney AH, Sanger WG.
    Uniparental disomy detection in Prader Willi/Angelman syndrome cases utilizing microarray.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 912F.
  642. Lam S, Luk H, Tong T, Lai K, Lo I.
    A population study of Prader-Willi syndrome in Chinese.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 947F.
  643. Tohyama J, Yamamoto T, Hosoki K, Nagasaki K, Akasaka N, Ohashi T, Kobayashi Y, Saitoh S.
     West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
    Am J Med Genet A. 2011 Oct;155A(10):2584-2588.
  644. Sakthivel M, Hughes SM, Riley P, Arkwright PD, Mukherjee A, Ramsden S, Urquhart J, Crow YJ.
     Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.
    Am J Med Genet A. 2011 Dec;155(12):3087-3089.
  645. Matejas V, Muscheites J, Wigger M, Kreutzer HJ, Nizze H, Zenker M.
     Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities.
    Am J Med Genet A. 2011 Oct;155A(10):2601-2604.
  646. Behnecke A, Hinderhofer K, Jauch A, Janssen J, Moog U.
     Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).
    Clin Genet. 2012 Nov;82(5):494-498.
  647. Eggermann T, Spengler S, Bachmann N, Baudis M, Mau-Holzmann UA, Singer S, Rossier E.
     Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).
    Am J Med Genet A. 2010 Jun;152A(6):1484-1487.
  648. Patil SJ, Ponnala R, Shah S, Dalal A.
     Mosaic trisomy 9 presenting with congenital heart disease, facial dysmorphism and pigmentary skin lesions: intricate issues of genetic counseling.
    Indian J Pediatr. 2012 Jun;79(6):806-809.
  649. Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, Samson-Bouma ME, Aggerbeck LP.
     Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.
    Orphanet J Rare Dis. 2011 Nov 21;6(1):78.
  650. Losekoot M, Ruivenkamp CA, Tholens AP, Grimbergen JE, Vijfhuizen L, Vermeer S, Dijkman HB, Cornelissen EA, Bongers EM, Peters DJ.
     Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.
    J Med Genet. 2012 Jan;49(1):37-40.
  651. Pérez B, Nevado J, Lapunzina P, Gallego L, Pérez-Cerdá C, Merinero B, Ugarte M, Desviat LR.
     Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases.
    Mol Genet Metab. 2012 Feb;105(2):270-271.
  652. Bruno DL, White SM, Ganesamoorthy D, Burgess T, Butler K, Corrie S, Francis D, Hills L, Prabhakara K, Ngo C, Norris F, Oertel R, Pertile MD, Stark Z, Amor DJ, Slater HR.
     Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.
    J Med Genet. 2011 Dec;48(12):831-839.
  653. Corrias A, Grugni G, Crinò A, Di Candia S, Chiabotto P, Cogliardi A, Chiumello G, De Medici C, Spera S, Gargantini L, Iughetti L, Luce A, Mariani B, Ragusa L, Salvatoni A, Andrulli S, Mussa A, Beccaria L; On behalf of the Study Group for Genetic Obesity of the Italian Society of Pediatric Endocrinology and Diabetology (SIEDP/ISPED).
     Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome.
    Clin Endocrinol (Oxf). 2012 Jun;76(6):843-850.
  654. Mussa A, Peruzzi L, Chiesa N, De Crescenzo A, Russo S, Melis D, Tarani L, Baldassarre G, Larizza L, Riccio A, Silengo M, Ferrero GB.
     Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.
    Pediatr Nephrol. 2012 Mar;27(3):397-406.
  655. Iafusco D, Massa O, Pasquino B, Colombo C, Iughetti L, Bizzarri C, Mammì C, Lo Presti D, Suprani T, Schiaffini R, Nichols CG, Russo L, Grasso V, Meschi F, Bonfanti R, Brescianini S, Barbetti F; The Early Diabetes Study Group of ISPED.
     Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births.
    Acta Diabetol. 2012 Oct;49(5):405-408.
  656. Douglas GV, Wiszniewska J, Lipson MH, Witt DR, McDowell T, Sifry-Platt M, Hirano M, Craigen WJ, Wong LJ.
     Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
    J Hum Genet. 2011 Dec;56(12):834-839.
  657. Marcus KA, van Alfen-van der Velden JA, Otten BJ, Weijers G, Yntema HG, de Korte CL, Kapusta L.
     Cardiac evaluation in children with Prader-Willi syndrome.
    Acta Paediatr. 2012 May;101(5):e225-231.
  658. Graw SL, Swisshelm K, Floyd K, Carstens BJ, Wamboldt MZ, Ross RG, Leonard S.
     Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder.
    Mol Cytogenet. 2012 Jan 3;5(1):2.
  659. Catarzi S, Giunti L, Papadia F, Gabrielli O, Guerrini R, Donati MA, Genuardi M, Morrone A.
     Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
    Mol Genet Metab. 2012 Mar;105(3):438-442.
  660. Honea RA, Holsen LM, Lepping RJ, Perea R, Butler MG, Brooks WM, Savage CR.
     The neuroanatomy of genetic subtype differences in Prader-Willi syndrome.
    Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):243-253.
  661. Begemann M, Spengler S, Kordaß U, Schröder C, Eggermann T.
     Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation.
    Am J Med Genet A. 2012 Feb;158A(2):423-428.
  662. Fuke-Sato T, Yamazawa K, Nakabayashi K, Matsubara K, Matsuoka K, Hasegawa T, Dobashi K, Ogata T.
     Mosaic upd(7)mat in a patient with Silver-Russell syndrome.
    Am J Med Genet A. 2012 Feb;158A(2):465-468.
  663. Bai JL, Wang H, Yang YL, Song F.
     [Unbalanced translocation t (5;15) in a patient with Prader-Willi syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):664-7. Chinese.
  664. Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T.
     Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype.
    Eur J Hum Genet. 2012 Sep;20(9):928-932.
  665. Giovannoni I, Terracciano A, Gennari F, David E, Francalanci P, Santorelli FM.
     Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency.
    Hepatol Res. 2012 Mar;42(3):327-331.
  666. Cogulu O, Pariltay E, Durmaz AA, Aykut A, Gunduz C, Ozbaran B, Aydin HH, Erermis S, Aydin C, Ozkinay F.
     Demonstration of uniparental-isodisomy on chromosome 22q11.2 in a patient with childhood schizophrenia and facial dysmorphology by whole-genome analysis.
    J Neuropsychiatry Clin Neurosci. 2012 Dec 1;24(1):E13-4.
  667. Tucker T, Schlade-Bartusiak K, Eydoux P, Nelson TN, Brown L.
     Uniparental disomy: can SNP array data be used for diagnosis?
    GenetMed. 2012 Apr 26;14(8), 753–756.
  668. Royo Pérez D, Monge Galindo L, López Pisón J, Pérez Delgado R, Lafuente Hidalgo M, Peña Segura JL, Miramar Gallart MD, Rodriguez Valle A, Calvo Martín MT.
     [Prader-willi and Angelman syndromes: 21 years of experience.]
    An Pediatr (Barc). 2012 Sep;77(3):151-157.
  669. Dimitropoulos A, Ho A, Feldman B.
     Social responsiveness and competence in Prader-Willi syndrome: direct comparison to autism spectrum disorder.
    J Autism Dev Disord. 2013 Jan;43(1):103-113.
  670. Murakami N, Obata K, Sakazume S, Kido Y, Oto Y, Nagai T.
    The frequency and exact karyotypes of complex chromosomal aberrations in Prader-Willi syndrome.
    Europ J Hum Genet 20 (Suppl. 1), p 92, Abstractnr. P02.206).
  671. Fabretto A, Skabar A, Rocca MS, Perrone MD, Gasparini P, Pecile V.
    A case of mosaic paternal uniparental disomy 15 identified by SNParray analisys.
    Europ J Hum Genet 20 (Suppl. 1), p 55, Abstractnr. P02.025).
  672. Mussa A, De Crescenzo A, Russo S, Calzari L, Chiesa N, Molinatto C, Baldassarre G, Melis D, Milani D, Badeschi M, Tarani L, Selicorni A, Silengo M, Larizza L, Riccio A, Ferrero GB.
    Phenotype /(Epi-) Genotype correlation in 265 cases of Beckwith-Wiedemann syndrome.
    Europ J Hum Genet 20 (Suppl. 1), pp 58-59 , Abstractnr. P02.040).
  673. Gogiel M, Begemann M, Spengler S, Soellner L, Göretzlehner U, Eggermann T, Strobl-Wildemann G.
     Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
    Eur J Hum Genet. 2013 Jul;21(7):788-791.
  674. Molinatto C, Mussa A, De Crescenzo A, Chiesa N, Baldassarre G, Selicorni A, Russo S, Riccio A, Silengo M, Ferrero GB.
    Incidence of Beckwith-Wiedemann syndrome.
    Europ J Hum Genet 2012 (Suppl. 1), p 77, Abstractnr. P02.129).
  675. Chrzanowska KH, Tańska A, Marczak-Hałupka A, Ciara E, Kalin M, Kugaudo M, Arasimowicz E, Kołodziejczyk H, Świąder A, Ginalska-Malinowska M, Szarras-Czapnik M, Syczewska M, Jurkiewicz D, Krajewska-Walasek M.
    Silver-Russell Syndrome - correlations between the phenotype and (epi)genetic alterations.
    Europ J Hum Genet 2012 (Suppl. 1), p 98, Abstractnr. P02.233).
  676. Azzarello-Burri S, Oneda B, Baumer A, Pajarola S, Niedrist D, Rauch A.
    Maternal isodisomy for chromosome 9 in a patient with IgA nephropathy, short stature and intellectual disability
    Europ J Hum Genet 2012 (Suppl. 1), p 102, Abstractnr. P02.256).
  677. Siebers-Renelt U, Dworniczak B, Wieacker P, Röpke A.
    Homozygous 2p21 deletion syndrome due to maternal uniparental disomy 2
    Europ J Hum Genet 2012 (Suppl. 1), p 105, Abstractnr. P03.006).
  678. Schlade-Bartusiak K, Tucker T, Oh T, Nelson T, Eydoux P, Van Allen M, Steinraths M.
    The power of SNP array: incidental diagnosis of paternal uniparental disomy of chromosome 15 in a child with a large chromosomal deletion of 11q21q22.3.
    Europ J Hum Genet 2012 (Suppl. 1), p 131, Abstractnr. P03.137).
  679. Niedrist D, Oneda B, Baumer A, Rauch A.
    Maternal segmental uniparental disomy 14 in an adult patient with typical upd(14)mat phenotyp
    Europ J Hum Genet 2012 (Suppl. 1), p 131, Abstractnr. P03.138).
  680. Pertile MD, Oertel R, Hills L, Boys A, Norris F, Burns I, Bruno DL, Slater HR.
    Whole genome microarray in clinical practice: Investigation of 2,024 miscarriage, stillbirth and fetal malformation referrals.
    Europ J Hum Genet 2012 (Suppl. 1), pp 151-152, Abstractnr. P05.34).
  681. Stellmer F, Schoner K, Bald R, Schmitt W, Kerber S, Auber B, Held K, Achmann R.
    Paternal uniparental diploidy mosaicism in a fetus with multiple abnormalities including findings of Beckwith-Wiedemann Syndrome.
    Europ J Hum Genet 2012 (Suppl. 1), p 156, Abstractnr. P05.70).
  682. Garin I, Poole RL, Suarez L, Martorell L, Mackay D, Perez de Nanclares G.
    Heterodisomy at 20q as a cause of Pseudohypoparathyroidism-Ib.
    Europ J Hum Genet 2012 (Suppl. 1), p 172, Abstractnr. P11.056).
  683. Wehnert M, Meinke P, Starke S, Schröder W, Kiess W, Felbor U.
    Restrictive dermopathy-like phenotype caused by the homozygous mutation LMNA p.R435C due to partial uniparental disomy of chromosome 1.
    Europ J Hum Genet 2012 (Suppl. 1), p 329, Abstractnr. P12.204).
  684. Roberts JL, Buckley RH, Luo B, Pei J, Lapidus A, Peri S, Wei Q, Shin J, Parrott RE, Dunbrack RL Jr, Testa JR, Zhong XP, Wiest DL.
     CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
    Proc Natl Acad Sci U S A. 2012 Jun 26;109(26):10456-10461.
  685. Oto Y, Obata K, Matsubara K, Kozu Y, Tsuchiya T, Sakazume S, Yoshino A, Murakami N, Ogata T, Nagai T.
     Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader-Willi syndrome.
    Am J Med Genet A. 2012 Jun;158A(6):1477-1480.
  686. Harrison V, Hurst J, Lloyd-Jani A, Lester T, Lever M, Man S, O'Rourke A, Robinson D, Tabiner M, Williams R, Kini U.
     Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy.
    Clin Dysmorphol. 2012 Oct;21(4):208-211.
  687. Zhan SN, Wang CZ, Yang Y, Wang Y, Wu HL, Li H, He XY.
     [Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome].
    Zhongguo Dang Dai Er Ke Za Zhi. 2012 Jun;14(6):445-448. Chinese.
  688. Huang YH, Tai CL, Lu YH, Wu TJ, Chen HD, Niu DM.
     Recessive congenital methemoglobinemia caused by a rare mechanism: Maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22.
    Blood Cells Mol Dis. 2012 Aug 15;49(2):114-117.
  689. Alves C, Flanagan SE, Ellard S, Mackay DJ.
     Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children.
    Diabetes Res Clin Pract. 2012 Sep;97(3):e41-44.
  690. Landsverk ML, Douglas GV, Tang S, Zhang VW, Wang GL, Wang J, Wong LJ.
     Diagnostic approaches to apparent homozygosity.
    Genet Med. 2012 Oct;14(10):877-882.
  691. Reddy KS, Aradhya S, Meck J, Tiller G, Abboy S, Bass H.
     A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.
    Genet Med. 2013 Jan;15(1):3-13.
  692. Zhang P, Gao Z, Jiang Y, Wang J, Zhang F, Wang S, Yang Y, Xiong H, Zhang Y, Bao X, Xiao J, Wu X, Wu Y.
     Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.
    Eur J Neurol. 2013 Feb;20(2):322-330.
  693. Ding Q, Ouyang Q, Xi X, Wang X, Shen Y, Wang H.
     Maternal chromosome 4 heterodisomy/isodisomy and B βchain Trp323X mutation resulting in severe hypodysfibrinogenaemia.
    Thromb Haemost. 2012 Sep 27;108(4):654-661.
  694. Bar-Joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y.
     Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
    Hum Genet. 2012 Nov;131(11):1805-1810.
  695. Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N, Sekita Y, Miyado M, Matsubara K, Fuke T, Kato F, Fukami M, Ogata T.
     Paternal uniparental disomy 14 and related disorders: Placental gene expression analyses and histological examinations.
    Epigenetics. 2012 Oct;7(10):1142-1150.
  696. Ou X, Liu C, Chen S, Yu J, Zhang Y, Liu S, Sun H.
     Complete paternal uniparental isodisomy for chromosome2 revealed in a parentage testing case.
    Transfusion. 2013 Jun;53(6):1266-1269.
  697. Quaio CR, Almeida TF, Albano LM, Gomy I, Bertola DR, Varela MC, Koiffmann CP, Kim CA.
     A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome.
    Clinics (Sao Paulo). 2012 Aug;67(8):917-921.
  698. Hauck F, Randriamampita C, Martin E, Gerart S, Lambert N, Lim A, Soulier J, Maciorowski Z, Touzot F, Moshous D, Quartier P, Heritier S, Blanche S, Rieux-Laucat F, Brousse N, Callebaut I, Veillette A, Hivroz C, Fischer A, Latour S, Picard C.
     Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.
    J Allergy Clin Immunol. 2012 Nov;130(5):1144-1152.e11.
  699. Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T.
     Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.
    Nat Genet. 2008 Feb;40(2):237-242.
  700. Dias RP, Bogdarina I, Cazier JB, Buchanan C, Donaldson MC, Johnston LB, Hokken-Koelega AC, Clark AJ.
     Multiple Segmental Uniparental Disomy Associated with Abnormal DNA Methylation of Imprinted Loci in Silver-Russell Syndrome.
    J Clin Endocrinol Metab. 2012 Nov;97(11):E2188-2193.
  701. Koyama S, Tomimatsu T, Sawada K, Kanagawa T, Isobe A, Kinugasa Y, Tsutsui T, Kimura T.
     A case of complete hydatidiform mole with coexistent fetus: conclusive diagnosis of androgenesis of the molar placenta by variation of paternal acrocentric short arms.
    Am J Perinatol. 2010 Feb;27(2):143-149.
  702. Sasaki K, Mishima H, Miura K, Yoshiura KI.
     Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.
    Gene. 2013 Jan 10;512(2):267-274.
  703. Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N, Sekita Y, Miyado M, Matsubara K, Fuke T, Kato F, Fukami M, Ogata T.
     Paternal uniparental disomy 14 and related disorders: Placental gene expression analyses and histological examinations.
    Epigenetics. 2012 Oct 1;7(10):1142-1150.
  704. Carmichael H, Shen Y, Nguyen TT, Hirschhorn JN, Dauber A.
     Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.
    Clin Genet. 2013 Sep;84(3):213-222.
  705. Meyer SL, Splaingard M, Repaske DR, Zipf W, Atkins J, Jatana K.
     Outcomes of adenotonsillectomy in patients with prader-willi syndrome.
    Arch Otolaryngol Head Neck Surg. 2012 Nov 1;138(11):1047-51.
  706. Hirsch HJ, Eldar-Geva T, Gross-Tsur V, Benarroch F, Roger M, Lahlou N.
     Normal insulin-like peptide-3 levels despite low testosterone in adult males with Prader-Willi syndrome: variations in Leydig cell function from infancy through adulthood.
    J Clin Endocrinol Metab. 2013 Jan;98(1):E135-143.
  707. Dixit A, Chandler KE, Lever M, Poole RL, Bullman H, Mughal MZ, Steggall M, Suri M.
     Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q.
    J Clin Endocrinol Metab. 2013 Jan;98(1):E103-108.
  708. Haudry C, de Lonlay P, Malan V, Bole-Feysot C, Assouline Z, Pruvost S, Brassier A, Bonnefont JP, Munnich A, Rötig A, Lebre AS.
     Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
    Mol Genet Metab. 2012 Dec;107(4):700-704.
  709. Chávez B, Valdez E, Vilchis F.
     Uniparental disomy in steroid 5alpha-reductase 2 deficiency.
    J Clin Endocrinol Metab. 2000 Sep;85(9):3147-3150.
  710. Souzeau E, Dubowsky A, Ruddle JB, Craig JE.
    Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion.
    Mol Genet Genomic Med    . 2019 Aug;7(8):e774.
  711. Perrault I, Hanein S, Delphin N, Gerber S, Dufier JL, Kaplan J, Rozet JM.
     Uncommon rearrangements and de novo mutations associated with Leber congenital amaurosis.
    Am J Hum Genet 2006; 79 (Suppl 4):1940.
  712. Haberlandt E, Kotzot D.
     Interpretation of molecular results in segmental uniparental disomy.
    Hepatol Res. 2012 Nov;42(11):1150-1153.
  713. Lukova M, Todorova A, Todorov T, Mitev V.
     Different methylation patterns in BWS/SRS cases clarified by MS-MLPA.
    Mol Biol Rep. 2013 Jan;40(1):263-268.
  714. Oyarzabal A, Martínez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M, Rodríguez-Pombo P.
     A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
    Hum Mutat. 2013 Feb;34(2):355-362.
  715. Wu D, Wang M, Wang X, Yin N, Song T, Li H, Zhang F, Zhang Y, Ye Z, Yu J, Wang DM, Zhao Z.
     Maternal Transmission Effect of a PDGF-C SNP on Nonsyndromic Cleft Lip with or without Palate from a Chinese Population.
    PLoS One. 2012;7(9):e46477.
  716. Harteveld CL, Refaldi C, Giambona A, Ruivenkamp CA, Hoffer MJ, Pijpe J, Knijff PD, Borgna-Pignatti C, Maggio A, Cappellini MD, Giordano PC.
     Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major.
    Haematologica. 2013 May;98(5):691-695.
  717. Niida Y, Kuroda M, Mitani Y, Yokoi A, Ozaki M.
     Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy.
    J Hum Genet. 2012 Oct;57(10):687-690.
  718. Elli FM, Ghirardello S, Giavoli C, Gangi S, Dioni L, Crippa M, Finelli P, Bergamaschi S, Mosca F, Spada A, Beck-Peccoz P.
     A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype.
    Gene. 2012 Nov 1;509(1):168-172.
  719. Ganesamoorthy D, Bruno D, McGillivray G, Norris F, White S, Adroub S, Amor D, Yeung A, Oertel R, Pertile M, Ngo C, Arvaj A, Walker S, Charan P, Palma-Dias R, Woodrow N, Slater H.
     Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?
    BJOG. 2013 Apr;120(5):594-606.
  720. Inbar-Feigenberg M, Choufani S, Cytrynbaum C, Chen YA, Steele L, Shuman C, Ray PN, Weksberg R.
     Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues.
    Am J Med Genet A. 2013 Jan;161(1):13-20.
  721. Horii M, Horiuchi H, Momoeda M, Nakagawa M, Hirata M, Kusakawa I, Yamanaka M.
     Hepatoblastoma in an infant with paternal uniparental disomy 14.
    Congenit Anom (Kyoto). 2012 Dec;52(4):219-220.
  722. Le Beyec J, Cugnet-Anceau C, Pépin D, Alili R, Cotillard A, Lacorte JM, Basdevant A, Laville M, Clément K.
     Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: response to bariatric surgery.
    J Clin Endocrinol Metab. 2013 Feb;98(2):E397-402.
  723. Geelen J, Pfundt R, Meijer J, Verheijen FW, van Kuilenburg AB, Warris A, Marcelis C.
     Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.
    J Allergy Clin Immunol. 2013 Jul;132(1):222-223.
  724. Sheridan M, Bytyci Telegrafi A, Stinnett V, Umeh C, Mari Z, Dawson T, Bodurtha J, Batista D.
     Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.
    Clin Genet. 2013 Oct;84(4):368-372.
  725. Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK.
     Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: Utility of genome-wide SNP array.
    Am J Med Genet A. 2013 Jan;161(1):166-171.
  726. Adachi H, Takahashi I, Higashimoto K, Tsuchida S, Noguchi A, Tamura H, Arai H, Ito T, Masue M, Nishibori H, Takahashi T, Soejima H.
     Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: Few clinical features suggestive of Beckwith-Wiedemann syndrome.
    Endocr J. 2013;60(4):403-408.
  727. Yoon Cho S, Ki CS, Bae Sohn Y, Hyun Maeng S, Jin Jung Y, Jin Kim S, Jin DK.
     The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.
    J Hum Genet. 2013 Mar;58(3):150-154.
  728. Docherty LE, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan SE, Ellard S, Hattersley AT, Shield JP, Ennis S, Mackay DJ, Temple IK.
     Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.
    Diabetologia. 2013 Apr;56(4):758-762.
  729. Karaca E, Tuysuz B, Pehlivan S, Ozkinay F.
     First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.
    Iran J Pediatr. 2012 Dec;22(4):445-451.
  730. Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, Puechberty J, Vialard F, Sanlaville D, Fert Ferrer S, Bourrouillou G, Tabet A, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier M, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca A, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P.
     Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
    Clin Genet. 2014 Mar;85(3):233-244.
  731. Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T.
     Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.
    PLoS One. 2013;8(3):e60105.
  732. Pan M, Li FT, Li Y, Jiang FM, Li DZ, Lau TK, Liao C.
     Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue.
    Prenat Diagn. 2013 Mar 27:1-4.
  733. Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
     Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Ophthalmology. 2013 Jun;120(6):1239-1246.
  734. Bai JL, Qu YJ, Jin YW, Wang H, Yang YL, Jiang YW, Yang XY, Zou LP, Song F.
     Molecular and clinical characterization of Angelman syndrome in Chinese patients.
    Clin Genet 2014 Mar;85(3):273-277.
  735. Key AP, Jones D, Dykens EM.
     Social and emotional processing in Prader-Willi syndrome: genetic subtype differences.
    J Neurodev Disord. 2013 Mar 27;5(1):7.
  736. Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O.
     A genetic study of Wilson's disease in the United Kingdom.
    Brain. 2013 May;136(Pt 5):1476-1487.
  737. Anazi S, Al-Sabban E, Alkuraya FS.
     Gonadal mosaicism as a rare cause of autosomal recessive inheritance.
    Clin Genet. 2014 Mar;85(3):278-281.
  738. Amyere M, Aerts V, Brouillard P, McIntyre BA, Duhoux FP, Wassef M, Enjolras O, Mulliken JB, Devuyst O, Antoine-Poirel H, Boon LM, Vikkula M.
     Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.
    Am J Hum Genet. 2013 Feb 7;92(2):188-196.
  739. Dimitropoulos A, Ferranti A, Lemler M.
     Expressive and receptive language in Prader-Willi syndrome: Report on genetic subtype differences.
    J Commun Disord. 2013 Mar-Apr;46(2):193-201.
  740. Johnson JP, Haag M, Beischel L, McCann C, Phillips S, Tunby M, Hansen J, Schwanke C, Reynolds JF.
     "Deletion rescue" by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome.
    Clin Genet. 2014 Apr;85(4):376-380.
  741. Engel E.
     A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.
    Eur J Hum Genet. 2006 Nov;14(11):1158-1169.
  742. Poke G, Doody M, Prado J, Gattas M.
     Segmental maternal UPD6 with prenatal growth restriction.
    Mol Syndromol. 2013 Jan;3(6):270-273.
  743. Wang JC, Vaccarello-Cruz M, Ross L, Owen R, Pratt VM, Lightman K, Liu Y, Hafezi K, Cherif D, Sahoo T.
     Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype.
    Am J Med Genet A. 2013 Jul;161A(7):1695-1701.
  744. Chevalère J, Postal V, Jauregui J, Copet P, Laurier V, Thuilleaux D.
     Assessment of executive functions in Prader-Willi syndrome and relationship with intellectual level.
    J Appl Res Intellect Disabil. 2013 Jul;26(4):309-318.
  745. Jemaa LB, Jilani H, Azzabi O, Atig A, Trabelsi M, Chaabouni H, Meherzi A, Mrad R.
    Prader-Willi syndrome by maternal isodisomy : a case report.
    Chromosome Res 2013, 21:S64 (Abstractnr. 1.P66).
  746. Rocha C, Agostinho L, Cordeiro L, da SilvaI, de Molfetta G, Figueiredo A, Paradela E, Alvarenga R, dos Santos S, Paiva C.
    A clinical and genetic study of patients suspected of having Prader-Willi syndrome: a critical analysis of Holm and Gunay-Aygun’s criteria.
    Chromosome Res 2013, 21:S58 (Abstractnr. 1.P54)
  747. Röpke A, Siebers-Renelt U, Müller-Hofstede C, Dworniczak B, Wieacker P.
    Homozygous 2p21 deletion of PREPL and CAMKMT (C2orf34) due to maternal uniparental disomy for chromosome 2
    Chromosome Res 2013, 21:S54 (Abstractnr. 1.P46)
  748. Mölter-Väär T, Žordania R, Yakoreva M, Žilina O, Tiidema A.
    Maternal UPD(14) in a patient with 47,XXX karyotype: a case report
    Chromosome Res 2013, 21:S38 (Abstractnr. 1.P14)
  749. Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, Matsumoto N, Miyake N.
     A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
    Am J Med Genet A. 2013 Aug;161(8):1904-1909.
  750. Beneteau C, Landais E, Doco-Fenzy M, Gavazzi C, Philippe C, Béri-Dexheimer M, Bonnet C, Vigneron J, Walrafen P, Motte J, Leheup B, Jonveaux P.
     Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability.
    J Med Genet. 2011 Sep;48(9):635-639.
  751. Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA.
     Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
    Am J Med Genet A. 2013 Aug;161(8):1929-1939.
  752. Ciullini Mannurita S, Vignoli M, Bianchi L, Kondi A, Gerloni V, Breda L, Ten Cate R, Alessio M, Ravelli A, Falcini F, Gambineri E.
     CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort.
    Eur J Hum Genet. 2014 Feb;22(2):197-201.
  753. Lu W, Qi Y, Cui B, Chen XL, Wu BB, Chen C, Cao Y, Zhou WH, Xu H, Luo FH.
     Clinical and genetic features of Prader-Willi syndrome in China.
    Eur J Pediatr. 2014 Jan;173(1):81-86.
  754. Yang L, Zhan GD, Ding JJ, Wang HJ, Ma D, Huang GY, Zhou WH.
     Psychiatric illness and intellectual disability in the prader-willi syndrome with different molecular defects - a meta analysis.
    PLoS One. 2013;8(8):e72640.
  755. Liao C, Fu F, L R, Xie GE, Zhang YL, Li J, Li DZ.
    Implementation of high-resolution SNP arrays in the investigation of fetuses with ultrasound malformations: five years of clinical experience.
     Clin Genet. 2014 Sep;86(3):264-269.
  756. Cho SY, Goh DL, Lau KC, Ong HT, Lam CW.
     Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency.
    Clin Chim Acta. 2013 Aug 29;426C:13-17.
  757. Bhatt AD, Liehr T, Bakshi SR.
     Phenotypic spectrum in uniparental disomy: low incidence or lack of study?
    Indian J Hum Genet 2013, 19: 311-314.
  758. Wang JC, Vaccarello-Cruz M, Ross L, Owen R, Pratt VM, Lightman K, Liu Y, Hafezi K, Cherif D, Sahoo T.
     Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype.
    Am J Med Genet A. 2013 Jul;161A(7):1695-1701.
  759. Hoban PR, Heighway J, White GR, Baker B, Gardner J, Birch JM, Morris-Jones P, Kelsey AM.
     Genome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient.
    Hum Genet. 1995 Jun;95(6):651-656.
  760. Reed RC, Beischel L, Schoof J, Johnson J, Raff ML, Kapur RP.
     Androgenetic/biparental mosaicism in an infant with hepatic mesenchymal hamartoma and placental mesenchymal dysplasia.
    Pediatr Dev Pathol. 2008 Sep-Oct;11(5):377-383.
  761. Strain L, Warner JP, Johnston T, Bonthron DT.
     A human parthenogenetic chimaera.
    Nat Genet. 1995 Oct;11(2):164-169.
  762. Boiffard F, Bénéteau C, Quéré MP, Philippe HJ, Le Vaillant C.
     [When should evoke prenatal paternal uniparental disomy 14?].
    Gynecol Obstet Fertil. 2014 Apr;42(4):254-257 Frensh.
  763. King DA, Fitzgerald TW, Miller R, Canham N, Clayton-Smith J, Johnson D, Mansour S, Steward F, Vasudevan P, Hurles ME.
     A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.
    Genome Res. 2014 Apr;24(4):673-687.
  764. McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM.
     Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
    Nat Genet. 2013 May;45(5):556-562.
  765. Larson FV, Whittington J, Webb T, Holland AJ.
     A longitudinal follow-up study of people with Prader-Willi syndrome with psychosis and those at increased risk of developing psychosis due to genetic subtype.
    Psychol Med. 2013 Dec 13:1-5.
  766. Laje P, Palladino AA, Bhatti TR, States LJ, Stanley CA, Adzick NS.
     Pancreatic surgery in infants with Beckwith-Wiedemann Syndrome and Hyperinsulinism.
    J Pediatr Surg. 2013 Dec;48(12):2511-2516.
  767. Hannula-Jouppi K, Muurinen M, Lipsanen-Nyman M, Reinius LE, Ezer S, Greco D, Kere J.
     Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.
    Epigenetics. 2014 Mar 1;9(3):351-365.
  768. Nugnes R, Zito E, Mozzillo E, Camarca ME, Riccio MP, Terrone G, Melis D, Bravaccio C, Franzese A.
     Good cognitive performances in a child with Prader-Willi syndrome.
    Ital J Pediatr. 2013 Nov 15;39(1):74.
  769. Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R.
     High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
    Hum Genet. 2014 Mar;133(3):321-330.
  770. Nogueira C, Marques JS, Nesti C, Azevedo L, Di Lullo M, Meschini MC, Orlacchio A, Santorelli FM, Vilarinho L.
     Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome.
    Mol Genet Metab. 2013 Dec;110(4):493-494.
  771. Lukoshe A, White T, Schmidt MN, van der-Lugt A, Hokken-Koelega AC.
     Divergent structural brain abnormalities between different genetic subtypes of children with Prader--Willi syndrome.
    J Neurodev Disord. 2013 Oct 22;5(1):31.
  772. Swierczek S, Agarwal AM, Naidoo K, Lorenzo FR, Whisenant J, Nussenzveig RH, Agarwal N, Coetzer TL, Prchal JT.
     Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.
    Haematologica. 2013 Dec;98(12):1972-1979.
  773. Fan YS, Ouyang X, Peng J, Sacharow S, Tekin M, Barbouth D, Bodamer O, Yusupov R, Navarrete C, Heller AH, Pena SDj.
     Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray.
    Mol Cytogenet. 2013 Sep 20;6(1):38.
  774. Binder G, Liebl M, Woelfle J, Eggermann T, Blumenstock G, Schweizer R.
     Adult height and epigenotype in children with Silver-Russell syndrome treated with GH.
    Horm Res Paediatr. 2013;80(3):193-200.
  775. Kou KO, Lee H, Lau B, Wong WS, Kan A, Tang M, Lau ET, Poon CF, Leung KY.
     Two unusual cases of haemoglobin Bart's hydrops fetalis due to uniparental disomy or non-paternity.
    Fetal Diagn Ther. 2014;35(4):306-308.
  776. Eldar-Geva T, Hirsch HJ, Pollak Y, Benarroch F, Gross-Tsur V.
     Management of hypogonadism in adolescent girls and adult women with Prader-Willi syndrome.
    Am J Med Genet A. 2013 Dec;161(12):3030-3034.
  777. Horváth E, Horváth Z, Isaszegi D, Gergev G, Nagy N, Szabó J, Sztriha L, Széll M, Endreffy E.
     Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.
    Mol Cytogenet. 2013 Sep 8;6(1):35.
  778. Lockhart EL, Combs MR, Buck A, Horn S, Deak K.
    Transfusion medicine illustrated: Mosaic trisomy 9 in an infant with mixed-field ABO blood grouping.
     Transfusion. 2013 Sep;53(9):1884.
  779. Watanabe A, Satoh S, Fujita A, Naing BT, Orimo H, Shimada T.
     Perinatal hypophosphatasia caused by uniparental isodisomy.
    Bone. 2014 Mar;60:93-97.
  780. Brioude F, Lacoste A, Netchine I, Vazquez MP, Auber F, Audry G, Gauthier-Villars M, Brugieres L, Gicquel C, Le Bouc Y, Rossignol S.
     Beckwith-Wiedemann syndrome: Growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance.
    Horm Res Paediatr. 2013;80(6):457-465.
  781. Wilson V, Darlay R, Wong W, Wood KM, McFarlane J, Schejbel L, Schmidt IM, Harris CL, Tellez J, Hunze EM, Marchbank K, Goodship JA, Goodship TH.
     Genotype/phenotype correlations in complement factor h deficiency arising from uniparental isodisomy.
    Am J Kidney Dis. 2013 Nov;62(5):978-983.
  782. Keren B, Chantot-Bastaraud S, Brioude F, Mach C, Fonteneau E, Azzi S, Depienne C, Brice A, Netchine I, Le Bouc Y, Siffroi JP, Rossignol S.
     SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.
    Eur J Med Genet. 2013 Oct;56(10):546-550.
  783. Khare M, Gold JA, Wencel M, Billimek J, Surampalli A, Duarte B, Pontello A, Galassetti P, Cassidy S, Kimonis VE.
     Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome.
    J Pediatr Endocrinol Metab. 2014 May 1;27(5-6):511-8.
  784. Utine GE, Haliloğlu G, Volkan-Salancı B, Cetinkaya A, Kiper PO, Alanay Y, Aktaş D, Anlar B, Topçu M, Boduroğlu K, Alikaşifoğlu M.
     Etiological yield of SNP microarrays in idiopathic intellectual disability.
    Eur J Paediatr Neurol. 2014 May;18(3):327-37.
  785. Lee BY, Kim SY, Park JY, Choi EY, Kim DJ, Kim JW, Ryu HM, Cho YH, Park SY, Seo JT.
     Unusual maternal uniparental isodisomic X chromosome mosaicism with asymmetric y chromosomal rearrangement.
    Cytogenet Genome Res. 2014;142(2):79-86.
    ----------------
  786. Buiting K, Di Donato N, Beygo J, Lüdecke H-J, Horsthemke B, Worm K, Froberger A, Hackmann K.
    A novel case with mosaic genome wide paternal uniparental disomy: a rare condition which is possibly underdiagnosed.
    MedGen 2014, 26:131-132.
  787. Bai S, Lozada A, Jones MC, Dietz HC, Dempsey M, Das S.
     Mandibuloacral dysplasia caused by LMNA mutations and uniparental disomy.
    Case Rep Genet. 2014;2014:508231.
  788. Laverdure N, Dabadie A, Alex-Cordier MP, Odent S, Lachaux A.
     Maternal uniparental disomy 14 revealed by alpha 1 antitrypsin deficiency.
    Clin Res Hepatol Gastroenterol. 2014 Oct;38(5):604-606.
  789. Matsubara K, Kataoka N, Ogita S, Sano S, Ogata T, Fukami M, Katsumata N.Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder.
     Endocr J. 2014 Jun 29;61(6):629-633.
  790. Solomons J, Ridgway O, Hardy C, Kurian M, Jayawant S, Hughes S, Pretorius P, Németh AH.
     Infantile neuroaxonal dystrophy caused by uniparental disomy.
    Dev Med Child Neurol. 2014 Apr;56(4):386-389.
  791. Liehr T, Klein E, Mrasek K, Kosyakova N, Guilherme RS, Aust N, Venner C, Weise A, Hamid AB.
     Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes.
    Cytogenet Genome Res. 2013; 139(1-2):158-163.
  792. Mertz LG, Thaulov P, Trillingsgaard A, Christensen R, Vogel I, Hertz JM, Ostergaard JR.
     Neurodevelopmental outcome in Angelman syndrome: Genotype-phenotype correlations.
    Res Dev Disabil. 2014 Jul;35(7):1742-7.
  793. García MM, Velez C, Fenollar-Cortés M, Bustamante A, Lorda-Sanchez I, Soriano-Guillén L, Trujillo-Tiebas MJ.
     Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia.
    Am J Med Genet A. 2014 Apr;164(4):1075-1078.
  794. Alders M, Maas SM, Kadouch DJ, van der Lip K, Bliek J, van der Horst CM, Mannens MM.
    Methylation analysis in tongue tissue of BWS patients identifies the (epi)genetic cause in 3 patients with normal methylation levels in blood.
    Eur J Med Genet    . 2014 May-Jun;57(6):293-7.
  795. King JE, Dexter A, Gadi I, Zvereff V, Martin M, Bloom M, Vanderver A, Pizzino A, Schmidt JL.
     Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: A clinical report.
    J Genet Couns    . 2014 Oct;23(5):734-741.
  796. Chopade DK, Harde H, Ugale P, Chopade S.
    Unexpected inheritance of a balanced homologous translocation t(22q;22q) from father to a phenotypically normal daughter.
    Ind J Hum Genet 2014; 20(1):85-88.
  797. King DA, Hurles ME.
    Enrichment of uniparental disomy events detected in the Deciphering Developmental Disorders rare disease study.
    Europ J Hum Genet 2014: 21(Suppl 2): (Abstractnr. C17.2).
  798. Ciara E, Jurkiewicz D, Kugaudo M, Tańska A, Ginalska-Malinowska M, Piekutowska-Abramczuk D, Pelc M, Łuczak S, Trubicka J, Kowalski P, Borucka-Mankiewicz M, Jezela-Stanek A, Chrzanowska K, Krajewska-Walasek M.
    Different methylation patterns in Beckwith-Wiedemann syndrome due to mosaicism for UPD of chromosome11p15
    Europ J Hum Genet 2014: 21(Suppl 2):92 (Abstractnr. P02.030).
  799. Bazin A, Trost D, Kleinfinger P, Lohmann L, Bessières B, Guis F.
    Prenatal diagnosis of paternal uniparental isodisomy of chromosome 14 (patiUPD14) with chromosomal micro-array (CMA) in a fetus with multiple congenital abnormalities.
    Europ J Hum Genet 2014: 21(Suppl 2):97 (Abstractnr. P02.049).#
  800. van den Ende J, Van der Aa N, Loeys B.
    Lines of Blaschko as a manifestation of (functional) mosaicism in 4 female cases with different disorders.
    Europ J Hum Genet 2014: 21(Suppl 2):109 (Abstractnr. P02.099).
  801. Neroldova M, Frankova S, Stranecky V, Honsova E, Luksan O, Benes M, Michalova K, Kmoch S, Jirsa M.
    Segmental paternal isodisomy as a cause of juvenile hemochromatosis type 2a.
    Europ J Hum Genet 2014: 21(Suppl 2):146 (Abstractnr. P04.60).
  802. Albrecht B, de Groot K, Buiting K, Lüdecke H.
    A further patient with a deletion 14q32.2, clinical features of maternal uniparental disomy 14 and pronounced intellectual disability: evidence for a novel microdeletion syndrome
    Europ J Hum Genet 2014: 21(Suppl 2):167 (Abstractnr. P05.050).
  803. Guerrero-López R, Giráldez BG, Verdú A, Carrascosa-Romero MC, Ortega-Moreno L, Sánchez-Martín G, García-Muñoz Guren S, Pardal-Fernández JM, Serratosa JM.
    A new case of spinal muscular atrophy with progressive myoclonic epilepsy associated with a homozygous mutation in ASAH1
    Europ J Hum Genet 2014: 21(Suppl 2):232 (Abstractnr. P08.81).
  804. Hung C, Lee C, Lin S, Su Y.
    Combination HRM and MLPA for identification of methylation status at the H19 and KCNQ1OT1 DMRs in patients with Beckwith-Wiedemann syndrome.
    Europ J Hum Genet 2014: 21(Suppl 2):354 (Abstractnr. P14.04).
  805. Hoffer MJV, Gijsbers ACJ, Zondervan HA, Chitoe-Ramawadhdoebe S, Groenewegen L, Theunissen K, de Wilt E, van Bunderen P, Boon E, den Hollander NS, Klumper FJ.
    A monozygotic twin with TRAP sequence and an incomplete mitotic trisomy rescue.
    Europ J Hum Genet 2014: 21(Suppl 2):436 (Abstractnr. P19.38)
  806. Zagorac A, Blatnik A, Zemljič E, Kokalj Vokač N.
    Xq chromosome duplication, including SOX3 gene, in a male: clinical and molecular characterization
    Europ J Hum Genet 2014: 21(Suppl 2):461 (Abstractnr. P20.51).
  807. Ozer O, Koc A, Gezer C, Ekin A, Kurtulmus S.
    A unique case: prenatal diagnosis of paternal UPD (18)
    Europ J Hum Genet 2014: 21(Suppl 2):587 (Abstractnr. J19.28).
  808. Garcia-Hoyos M, Molero M, Rausell L, Lazaro M, Bermejo M, Ruiz-Lafora C, Perez-Alonso M, Lopez-Ariztegui A, Garcia-Planells J.
    Paternal Uniparental Isodisomy 11p mosaicism in a patient with Beckwith Wiedemann.
    Europ J Hum Genet 2014: 21(Suppl 2):606 (Abstractnr. J20.21).
  809. Andreescu N, Chirita-Emandi A, Dumitriu S, Popa C, Dobrescu A, Cucu N, Puiu M.
    A rare case of Prader Willi and Jacobs syndrome
    Europ J Hum Genet 2014: 21(Suppl 2):608-609 (Abstractnr. J20.31).
  810. Linck L, McMilin K, Popovich B, Magenis RE.
    Maternal uniparental disomy for chromosome 14.
    Am J Hum Genet 1997;59(Suppl):A124.
  811. Aretz S, Raff R, Woelfle J, Zerres K, Esser M, Propping P, Eggermann T.
    Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty.
    Am J Med Genet A    . 2005 Jun 15;135(3):336-338.
  812. Papenhausen P, Wylie A, Shah H, Ranells J, Kousseff B, Gadi I.
    Clinical/molecular studies of UPD14 and a diagnostic reversal.
    Am J Hum Genet 2001;69(Suppl):313.
  813. Yingjun X, Yi Z, Jianzhu W, Yunxia S, Yongzhen C, Liangying Z, Xiangyi J, Qun F.
     Prader-Willi Syndrome with a long-contiguous stretch of homozygosity not covering the critical region.
    J Child Neurol    . 2015 Mar;30(3):371-7.
  814. Ogata H, Ihara H, Murakami N, Gito M, Kido Y, Nagai T.
     Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader-Willi syndrome: A comparison between maternal uniparental disomy and deletion cases.
    Am J Med Genet A    . 2014 Sep;164(9):2180-2186.
  815. Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A, Riess O, Dufke A, Bonin M.
     Genome-wide UPD screening in patients with intellectual disability.
    Eur J Hum Genet. 2014 2014 Oct;22(10):1233-1235.
  816. Zilina O, Kahre T, Talvik I, Oiglane-Shlik E, Tillmann V, Ounap K.
     Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.
    Eur J Med Genet. 2014 May-Jun;57(6):279-283.
  817. Wang BT, Chong TP, Boyar FZ, Kopita KA, Ross LP, El-Naggar MM, Sahoo T, Wang JC, Hemmat M, Haddadin MH, Owen R, Anguiano AL.
     Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory.
    Mol Cytogenet. 2014 May 22;7:33.
  818. Zarate YA, Shur N, Robin A, Garnica AD, Quintos JB, Schaefer GB.
     Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.
    J Pediatr Endocrinol Metab. 2014 Sep 20;27(9-10):951-955.
  819. Kim T, Bershteyn M, Wynshaw-Boris A.
     Chromosome therapy: Correction of large chromosomal aberrations by inducing ring chromosomes in induced pluripotent stem cells (iPSCs).
    Nucleus. 2014 Sep 3;5(5)
  820. Sargar KM, Herman TE, Siegel MJ.
     Paternal uniparental disomy of chromosome 14.
    J Perinatol. 2014 Sep;34(9):723-725.
  821. Li CF, Lin HY, Liu HC, Lee SH, Lo MY, Lin SP, Lo FS, Niu DM.
     Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7.
    Am J Med Genet A. 2014 Aug;164A(8):2114-2117.
  822. Miyatake S, Tada H, Moriya S, Takanashi J, Hirano Y, Hayashi M, Oya Y, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
     Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy.
    Clin Genet. 2015 Apr;87(4):395-7.
  823. Vinatier I, Martin X, Costa JM, Bazin A, Giraudier S, Joly P.
     A late onset sickle cell disease reveals a mosaic segmental uniparental isodisomy of chromosome 11p15.
    Blood Cells Mol Dis. 2014 Aug 19. pii: S1079-9796(14)00100-4.
  824. Mertz LG, Christensen R, Vogel I, Hertz JM, Nielsen KB, Grønskov K, Østergaard JR.
     Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis.
    Am J Med Genet A. 2013 Sep;161A(9):2197-2203.
  825. Lukoshe A, Hokken-Koelega AC, van der Lugt A, White T.
     Reduced cortical complexity in children with prader-willi syndrome and its association with cognitive impairment and developmental delay.
    PLoS One. 2014 Sep 16;9(9):e107320.
  826. Ohtsuka Y, Higashimoto K, Sasaki K, Jozaki K, Yoshinaga H, Okamoto N, Takama Y, Kubota A, Nakayama M, Yatsuki H, Nishioka K, Joh K, Mukai T, Yoshiura KI, Soejima H.
     Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.
    Clin Genet. 2015 Sep;88(3):261-266.
  827. Andrade RC, Nevado J, de Faria Domingues de Lima MA, Saad T, Moraes L, Chimelli L, Lapunzina P, Vargas FR.
     Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy.
    Am J Med Genet A. 2014 Nov;164(11):2908-2913
  828. Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T.
     Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
    Eur J Hum Genet. 2015 May;23(5):663-71.
  829. Whittington JE, Holland AJ, Webb T.
     Ageing in people with Prader-Willi syndrome: mortality in the UK population cohort and morbidity in an older sample of adults.
    Psychol Med. 2014 2014 Aug 4:1-7.
  830. Mertz LG, Christensen R, Vogel I, Hertz JM, Ostergaard JR.
     Eating behavior, prenatal and postnatal growth in Angelman syndrome.
    Res Dev Disabil. 2014 Nov;35(11):2681-2690.
  831. Lanternier F, Barbati E, Meinzer U, Liu L, Pedergnana V, Migaud M, Héritier S, Chomton M, Frémond ML, Gonzales E, Galeotti C, Romana S, Jacquemin E, Angoulvant A, Bidault V, Canioni D, Lachenaud J, Mansouri D, Mahdaviani SA, Adimi P, Mansouri N, Jamshidi M, Bougnoux ME, Abel L, Lortholary O, Blanche S, Casanova JL, Picard C, Puel A.
     Inherited CARD9 deficiency in 2 unrelated patients with invasive exophiala enfection.
    J Infect Dis. 2015 Apr 15;211(8):1241-50.
  832. Abdelhedi F, El Khattabi L, Cuisset L, Tsatsaris V, Viot G, Druart L, Lebbar A, Dupont JM.
     Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.
    Am J Clin Pathol. 2014 Aug;142(2):248-253.
  833. Bug S, Solfrank B, Schmitz F, Pricelius J, Stecher M, Craig A, Botcherby M, Nevinny-Stickel-Hinzpeter C.
     Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy.
    Mol Cytogenet. 2014 Jun 24;7:43.
  834. Garin I, Mantovani G, Aguirre U, Barlier A, Brix B, Elli FM, Freson K, Grybek V, Izzi B, Linglart A, Perez de Nanclares G, Silve C, Thiele S, Werner R.
     European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
    Eur J Hum Genet 2015 Apr;23(4):438-44.
  835. Ibrahim A, Kirby G, Hardy C, Dias RP, Tee L, Lim D, Berg J, MacDonald F, Nightingale P, Maher ER.
     Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects.
    Clin Epigenetics. 2014 Jun 4;6(1):11.
  836. Ihara H, Ogata H, Sayama M, Kato A, Gito M, Murakami N, Kido Y, Nagai T.
     QOL in caregivers of Japanese patients with Prader-Willi syndrome with reference to age and genotype.
    Am J Med Genet A. 2014 Sep;164(9):2226-2231.
  837. Ioannides Y, Lokulo-Sodipe K, Mackay DJ, Davies JH, Temple IK.
     Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases.
    J Med Genet. 2014 Aug;51(8):495-501.
  838. Bogardus H, Schulz VP, Maksimova Y, Miller BA, Li P, Forget BG, Gallagher PG.
     Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.
    Haematologica. 2014 Sep;99(9):e168-170.
  839. Iragavarapu S, Gorin MB.
     Gender Specific Issues in Hereditary Ocular Disorders.
    Curr Eye Res. 2014 Jul 14:1-18.
  840. Zeesman S, McCready E, Sadikovic B, Nowaczyk MJ.
     Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.
    Am J Med Genet A    . 2015 Jan;167(1):180-4.
  841. Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM.
     Molecular findings among patients referred for clinical whole-exome sequencing.
    JAMA    . 2014 2014 Nov 12;312(18):1870-1879.
  842. Tavares P, Vaglio A, Lemos R, Ventura C, Pereira A, Sousa A, Sá J, Pinto Basto J, Quadrelli R, Rendeiro P.
    Silver-Russell syndrome and segmental UPD(7q) detected by arrayCGH.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p 625 (Abstractnummer 2535M)
  843. Thong M, Thurga K, Poh RYY, Taufik I, Chew HB, Ch'ng GS, Keng WT.
    Characterization of Malaysian children with Beckwith-Wiedemann syndrome and Silver-Russell syndrome using methylation specific – multiplex ligation-dependent probe amplification.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p 640 (Abstractnummer 2585S).
  844. Phowthongkum P, Berkowitz J, Schneider A.
    Maternal Uniparental Disomy Prader-Willi Syndrome in an XYY boy.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p 649 (Abstractnummer 2613M).
  845. Wolf L, Clericuzio C, Cassidy SB, Allanson JE.
    Prader-Willi syndrome: toward automated identification of phenotypic differences.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p 651 (Abstractnummer 2620T).
  846. Rangasamy S, Richholt R, Ramsey KM, Siniard A, Corneveaux JJ, Schrauwen I, Krate J, Kurdoglu A, De Both M, Szelinger S, Hjelm BE, Swaminathan S, Huentelman M, Craig D, Narayanan V,
    Congenital Myasthenia Syndrome: Uniparental disomy of chromosome 2 and homozygous mutation of GFPT1.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p 652 (Abstractnummer 2622M).
  847. Lesmana H, Hopkin R.
    Maternal UPD(16) with IUGR, transient neonatal hypoglycemia and cholestasis.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p 697 (Abstractnummer 2785T).
  848. Potluri V, Burnside R, Pasion R, Papenhausen P.
    Apparent fetal developmental correction of partial monosomy 4 secondary to possible inheritance of a single translocation derivative.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p 814 (Abstractnummer 3183T).
  849. Numata S, Hamada T, Teye K, Matsuda M, Ishii N, Karashima T, Kabashima K, Furumura M, Ohata C, Hashimoto T.
     Complete maternal isodisomy of chromosome 5 in a Japanese patient with Netherton syndrome.
    J Invest Dermatol. 2014 Mar;134(3):849-852.
  850. Melone MAB, Pellegrino MJ, Nolano M, Habecker BA, Johansson S, Nathanson NM, Knappskog PM, Hahn AF, Boman H
     Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy
    Ann Clin Translat Neurol 2014; 1(11): 926-932.
  851. Watanabe T, Go H, Kagami M, Yasuda S, Nomura Y, Fujimori K.
     Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome.
    J Obstet Gynaecol Res. 2015 Jul;41(7):1133-1136.
  852. Chen CP, Ko TM, Huang MC, Chern SR, Lin TW, Chang TY, Kuo YL, Chen WL, Wang W.
     Detection of de novo secondary trisomy 13 due to isochromosome (13q;13q) of paternal origin in a pregnancy with fetal cystic hygroma.
    Taiwan J Obstet Gynecol. 2015 Feb;54(1):78-80.
  853. Sienko M, Petriczko E, Zajaczek S, Zygmunt-Gorska A, Starzyk J, Korpysz A, Petriczko J, Walczak A, Walczak M.
     A ten-year observation of somatic development of a first group of Polish children with Silver-Russell syndrome.
    Neuro Endocrinol Lett    . 2014;35(4):306-313.
  854. Milosevic J, El Khattabi L, Roubergue A, Coussement A, Doummar D, Cuisset L, Le Tessier D, Flageul B, Viot G, Lebbar A, Dupont JM.
     Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.
    Am J Med Genet A. 2014 Dec;164A(12):3180-3186.
  855. Takimoto T, Takada H, Ishimura M, Kirino M, Hata K, Ohara O, Morio T, Hara T.
     Wiskott-Aldrich syndrome in a girl caused by heterozygous WASP mutation and extremely skewed X-chromosome inactivation: A novel association with maternal uniparental isodisomy 6.
    Neonatology. 2015;107(3):185-190.
  856. Bertoin F, Letouzé E, Grignani P, Patey M, Rossignol S, Libé R, Pasqual C, Lardière-Deguelte S, Hoeffel-Fornes C, Gaillard D, Previderè C, Delemer B, Lalli E.
     Genome-wide paternal uniparental disomy as a cause of Beckwith-Wiedemann syndrome associated with recurrent virilizing adrenocortical tumors.
    Horm Metab Res    . 2015 Jun;47(7):497-503.
  857. Gao X, Gotway G, Rathjen K, Johnston C, Sparagana S, Wise CA.
     Genomic analyses of patients with unexplained early onset scoliosis.
    Spine Deform    . 2014 Sep 1;2(5):324-332.
  858. Papenhausen PR, Kelly CA, Zvereff V, Schwartz S.
     Four-copy number intervals in SNP microarray analysis: unique patterns and positions.
    Cytogenet Genome Res. 2014;144(2):92-103. 
  859. Brennan ML, Adam MP, Seaver LH, Myers A, Schelley S, Zadeh N, Hudgins L, Bernstein JA.
     Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects.
    Am J Med Genet A. 2015 Jan;167A(1):142-146.
  860. Lionti T, Reid SM, White SM, Rowell MM.
     A population-based profile of 160 Australians with Prader-Willi syndrome: Trends in diagnosis, birth prevalence and birth characteristics.
    Am J Med Genet A    . 2015 Feb;167(2):371-378.
  861. Takama Y, Kubota A, Nakayama M, Higashimoto K, Jozaki K, Soejima H.
     Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.
    Pediatr Int. 2014 Dec;56(6):931-934.
  862. Giráldez BG, Guerrero-López R, Ortega-Moreno L, Verdú A, Carrascosa-Romero MC, García-Campos Ó, García-Muñozguren S, Pardal-Fernández JM, Serratosa JM.
     Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1.
    Neuromuscul Disord    . 2015 Mar;25(3):222-4.
  863. Yang A, Lee YH, Nam SY, Jeong YJ, Kyung Y, Huh R, Lee J, Kwun Y, Cho SY, Jin DK.
     Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion.
    Ann Pediatr Endocrinol Metab. 2015 Mar;20(1):40-5.
  864. Izumi K, Kubota N, Arakawa M, Takayama M, Harada Y, Nakamura T, Nishi E, Hidaka E.
     Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy.
    Am J Med Genet A. 2015 Jun;167(6):1289-93.
  865. Lin SB, Xie YJ, Chen Z, Zhou Y, Wu JZ, Zhang ZQ, Shi SS, Chen BJ, Fang Q.
     Improved assay performance of single nucleotide polymorphism array over conventional karyotyping in analyzing products of conception.
    J Chin Med Assoc. 2015 Jul;78(7):408-413.
  866. Takatani R, Minagawa M, Molinaro A, Reyes M, Kinoshita K, Takatani T, Kazukawa I, Nagatsuma M, Kashimada K, Sato K, Matsushita K, Nomura F, Shimojo N, Jüppner H.
    Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B).
    Bone. 2015 Oct;79:15-20.
  867. Jin HY, Lee BH, Choi JH, Kim GH, Kim JK, Lee JH, Yu J, Yoo JH, Ko CW, Lim HH, Chung HR, Yoo HW.
     Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
    Clin Endocrinol (Oxf). 2011 Aug;75(2):207-13.
  868. Fernández-Rebollo E, Lecumberri B, Gaztambide S, Martinez-Indart L, Perez de Nanclares G, Castaño L; Spanish PHP Group.
     Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.
    Clin Endocrinol Metab    . 2013 May;98(5):E996-1006.
  869. Hancarova M, Krepelova A, Puchmajerova A, Soucek O, Prchalova D, Sumnik Z, Sedlacek Z.
     Hypophosphatasia due to uniparental disomy.
    Bone. 2015 May 1. pii: S8756-3282(15)00154-4.
  870. Regier DS, Leon E, Counts DR, Tifft CJ, Zand DJ.
    Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.
     Am J Med Genet A. 2015 Aug;167A(8):1944-1948.
  871. Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB.
     (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Eur J Hum Genet. 2016 Feb;24(2):183-190.
  872. Tamminga S, Stalman SE, Kamp GA, Hendriks YM, Knegt AC, Elting MW.
     [Maternal uniparental disomy 14; differential diagnosis with Prader-Willi syndrome].
    Ned Tijdschr Geneeskd    . 2015;159(0):A8240. Dutch.
  873. Aoyama Y, Yamamoto T, Sakaguchi N, Ishige M, Tanaka T, Ichihara T, Ohara K, Kouzan H, Kinosada Y, Fukao T.
     Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
    Int J Mol Med    . 2015 Jun;35(6):1554-60.
  874. Miodrag N, Peters S.
     Parent stress across molecular subtypes of children with Angelman syndrome.
    J Intellect Disabil Res. 2015     Sep;59(9):816-26
  875. Marsaud C, Rossignol S, Tounian P, Netchine I, Dubern B.
     Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome.
    Arch Dis Child. 2015 Apr;100(4):353-8.
  876. Leslie EJ, O'Sullivan J, Cunningham ML, Singh A, Goudy SL, Ababneh F, Alsubaie L, Ch'ng GS, van der Laar IM, Hoogeboom AJ, Dunnwald M, Kapoor S, Jiramongkolchai P, Standley J, Manak JR, Murray JC, Dixon MJ.
     Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
    Am J Med Genet A. 2015 Mar;167A(3):545-52.
  877. Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T.
     Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).
    Eur J Hum Genet. 2015 2015 Oct;23(11):1488-1498
  878. Bayindir B, Dehaspe L, Brison N, Brady P, Ardui S, Kammoun M, Van der Veken L, Lichtenbelt K, Van den Bogaert K, Van Houdt J, Peeters H, Van Esch H, de Ravel T, Legius E, Devriendt K, Vermeesch JR.
    Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.
    Eur J Hum Genet    . 2015 Oct;23(10):1286-93.
  879. Tenorio JA, Romanelli V, Fernández García-Moya L, Arias P, Gordo G, Dapía I, Nevado J, SOGRI Consortium, Lapunzina P.
    Relation between assisted reproduction techniques and genomic imprinting defects.
    Europ J Hum Genet 2015, 23 Suppl 1: p210 (Abstractno: PS11.021).
  880. Joosten M, Diderich KEM, Van Opstal D, Govaerts LCP, Riedijk SR, Prinsen AKE, De Vries FAT, Galjaard RJH, Srebniak MI.
    Prenatal whole genome SNP array diagnosis: relevance of unexpected abnormal results in pregnancies with and without ultrasound anomalies.
    Europ J Hum Genet 2015, 23 Suppl 1: p70 (Abstractno: PM01.84).
  881. Jurkiewicz D, Kugaudo M, Ciara E, Tańska A, Piekutowska-Abramczuk D, Trubicka J, Pelc M, Śmigiel R, Jezela-Stanek A, Obersztyn E, Stembalska A, Poluha A, Wierzba J, Tomaszewska A, Janeczko M, Fijak J, Glazar R, Wiśniewska M, Klimkowska-Boczoń M, Kamela A, Krygier M, Pioch A, Drożyńska-Duklas M, Ślęzak R, Wawrzkiewicz-Witkowska A, Cieślikowska A, Chrzanowska K, Krajewska-Walasek M.
    Epigenetic and genetic defects in Polish patients with Beckwith-Wiedemann syndrome.
    Europ J Hum Genet 2015, 23 Suppl 1: p210 (Abstractno: PM11.022).
  882. Alders M, Lakeman P, Peters M, Kuijpers TW.
    A paternal isodisomy of chromosome 12 causes two different disorders in a developmentally delayed girl with mild dysmorphic features and sideroblastic anaemia.
    Europ J Hum Genet 2015, 23 Suppl 1: p234 (Abstractno: PS11.129).
  883. Leegte B, Rump P, Sikkema – Raddatz B, Benjamins M, Dijkhuizen T, Sinke R.
    Mosaic patterns can be missed by SNP array because of absence of heterozygosity in the normal cells.
    Europ J Hum Genet 2015, 23 Suppl 1: p274 (Abstractno: PS13.35).
  884. Rattay TW, Soehn AS, Karle KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Gaiser U, Bauer P, Züchner S, Schüle R, Schöls L.
    Uniparental disomy causing hereditary spastic paraplegia: Paternal disomy in FA2H causing homozygous SPG35 in two non-consanguine families.
    Europ J Hum Genet 2015, 23 Suppl 1: p180 (Abstractno: PS09.063).
  885. Bögershausen N, Tsai I, Pohl E, Simsek-Kiper P, Beleggia F, Percin FE, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart F, Donnai D, Strom TM, Boduroglu K, Yigit G, Li Y, Katsanis N, Wollnik B.
    Spotlight on the pathogenesis of Kabuki syndrome.
    Europ J Hum Genet 2015, 23 Suppl 1: pp4-5 (Abstractno: PL2.3).
  886. van Dijk T, Appelhof B, Eggens VRC, Paulussen ADC, Dreesen JCFM, ten Asbroek ALMA, Weterman MAJ, Barth PG, Poll-The B, Baas F.
    Mosaic uniparental disomy of chromosome 15q in an atypical PCH patient.
    Europ J Hum Genet 2015, 23 Suppl 1: p189 (Abstractno: PM09.104).
  887. Brison N, Van Den Bogaert K, Brady P, Dehaspe L, Wlodarska I, Amant F, Vandenberghe P, de Ravel T, Peeters H, Van Esch H, Devriendt K, Legius E, Vermeesch JR.
    Incidental findings of genome wide non-invasive fetal aneuploidy detection (NIPT): presymptomatic identification of maternal cancers.
    Europ J Hum Genet 2015, 23 Suppl 1: p189 (Abstractno: C01.5).
  888. Giovannoni I, Callea F, Bellacchio E, Torre G, De Ville De Goyet J, Boldrini R, Francalanci P.
    Familial intrahepatic cholestasis: new approaches to diagnosis.
    Europ J Hum Genet 2015, 23 Suppl 1: p403 (Abstractno: J06.13).
  889. Touati A, H’mida Ben Brahim D, Nouri S, Chioukh F, Haddaji Mastouri M, Trabelsi S, Hammami S, Sassi S, Mougou S, Gribaa M, Guedich N, Seboui H, Nouri A, Monastiri K, Saad A.
    Beckwith-Wiedemann and Russell-Silver syndromes: Evidence of multilocus methylation defects.
    Europ J Hum Genet 2015, 23 Suppl 1: p466 (Abstractno: J17.13).
  890. Ma J, Cram DS, Zhang J, Shang L, Yang H, Pan H.
    Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis.
    Mol Cytogenet. 2015 Jun 25;8:43.
  891. Palumbo P, Palumbo O, Leone MP, Stallone R, Palladino T, Zelante L, Carella M.
     Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.
    Am J Med Genet A. 2015 Sep;167(9):2219-2222
  892. Aminoff A, Gunnar E, Barbaro M, Mannila MN, Duponchel C, Tosi M, Robinson KL, Hernell O, Ehrenborg E.
     Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia.
    Clin Genet. 2012 Aug;82(2):197-200.
  893. Losekoot M, Ruivenkamp CA, Tholens AP, Grimbergen JE, Vijfhuizen L, Vermeer S, Dijkman HB, Cornelissen EA, Bongers EM, Peters DJ.
     Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.
    J Med Genet    . 2012 Jan;49(1):37-40. 
  894. Mau-Holzmann U, Eggermann T, Mackensen-Haen S, Goelz R, Tzach A, Kagan KO, Singer S.
    Placentakl mesenchymal dysplasia: important differential diagnosis for partial moles and frequently associated with Beckwith-Widemann syndrome.
    Chromosome Res 2015, 23,Suppl 1: S118 (Abstractno: 3.P21).
  895. Lenzini E, Pecile V, Cleva L, Faletra F, Cappellani S, Bedon L, Gambel Benussi D.
    A patient with segmental isodisomy on 5q11.2-qter and deletion 5q11.1q11.2.
    Chromosome Res 2015, 23,Suppl 1: S53 (Abstractno: 1.P39).
  896. Pecile V, Cleva L, Fabretto A, Cappellani S, Bedon L, Lenzini E.
    Frequency of uniparental disomy in 836 patientsm with pathological findings.
    Chromosome Res 2015, 23,Suppl 1: S52-53 (Abstractno: 1.P38).
  897. Darcy D, Atwal PS, Angell C, Gadi I, Wallerstein R.
     Mosaic paternal genome-wide uniparental isodisomy with Down syndrome.
    Am J Med Genet A. 2015 2015 Oct;167(10):2463-2469.
  898. Xu J, Zhang M, Niu W, Yao G, Sun B, Bao X, Wang L, Du L, Sun Y.
    Genome-wide uniparental disomy screen in human discarded morphologically abnormal embryos.
    Sci Rep. 2015 Jul 21;5:12302.
  899. Zhang Y, Fu F, Li R, Xie G, Han J, Pan M, Zhen L, Yang X, Li D, Liao C.
    [Application of whole-genome and high-resolution chromosome microarray analysis for the investigation of fetuses with ultrasound abnormalities].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):169-174.
  900. Xiao B, Xu H, Ye H, Hu Q, Chen Y, Qiu W.
     De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter.
    Am J Med Genet A. 2015 Oct;167(10):2327-2333.
  901. Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK.
     Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
    Genet Med    . 2016 Apr;18(4):309-315
  902. Malvestiti F, Agrati C, Grimi B, Pompilii E, Izzi C, Martinoni L, Gaetani E, Liuti MR, Trotta A, Maggi F, Simoni G, Grati FR.
     Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis.
    Prenat Diagn    . 2015 Nov;35(11):1117-1127.
  903. Liu W, Zhang R, Wei J, Zhang H, Yu G, Li Z, Chen M, Sun X.
     Rapid diagnosis of imprinting disorders involving copy number variation and uniparental disomy using genome-wide SNP microarrays.
    Cytogenet Genome Res. 2015 Sep;146(1):9-18.
  904. Tamura M, Isojima T, Kawashima M, Yoshida H, Yamamoto K, Kitaoka T, Namba N, Oka A, Ozono K, Tokunaga K, Kitanaka S.
     Detection of hereditary 1,25-hydroxyvitamin D-resistant rickets caused by uniparental disomy of chromosome 12 using genome-wide single nucleotide polymorphism array.
    PLoS One. 2015 Jul 8;10(7):e0131157.
  905. Morandi A, Bonnefond A, Lobbens S, Carotenuto M, Del Giudice EM, Froguel P, Maffeis C.
     A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.
    Am J Med Genet A    . 2015 Nov;167(11):2720-2726.
  906. Serra A, Denzer F, Hiort O, Barth TF, Henne-Bruns D, Barbi G, Rettenberger G, Wabitsch M, Just W, Leriche C.
    Uniparental disomy in somatic mosaicism 45,X/46,XY/46,XX associated with ambiguous genitalia.
    Sex Dev. 2015;9(3):136-143.
  907. Wang Y, Li W, Xia Y, Wang C, Tang YT, Guo W, Li J, Zhao X, Sun Y, Hu J, Zhen H, Zhang X, Chen C, Shi Y, Li L, Cao H, Du H, Li J.
    Identifying human genome-wide CNV, LOH and UPD by targeted sequencing of selected regions.
    PLoS One. 2015 Apr 28;10(4):e0123081.
  908. Carvalho CM, Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MV, Liu P, Johnson D, Stankiewicz P, Brown CW; DDD Study, Shaw CA, Hurles ME, Ira G, Hastings PJ, Brunner HG, Lupski JR.
     Absence of heterozygosity due to template switching during replicative rearrangements.
    Am J Hum Genet. 2015 Apr 2;96(4):555-564.
  909. Schlegelberger B, Kreipe H, Lehmann U, Steinemann D, Ripperger T, Göhring G, Thomay K, Rump A, Di Donato N, Suttorp M.
    A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.
    Pediatr Blood Cancer. 2015 Aug;62(8):1481-1484.
  910. Chen C, Peng Y, Xia Y, Li H, Zhu H, Pan Q, Yin F, Wu L.
    [Phenotype-genotype correlation analysis of 12 cases with Angelman/Prader-Willi syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):708-712.
  911. Bögershausen N, Tsai IC, Pohl E, Kiper PÖ, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li Y, Katsanis N, Wollnik B.
    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
    J Clin Invest. 2015 Sep 1;125(9):3585-3599.
  912. Rucker JJ, Tansey KE, Rivera M, Pinto D, Cohen-Woods S, Uher R, Aitchison KJ, Craddock N, Owen MJ, Jones L, Jones I, Korszun A, Barnes MR, Preisig M, Mors O, Maier W, Rice J, Rietschel M, Holsboer F, Farmer AE, Craig IW, Scherer SW, McGuffin P, Breen G.
     Phenotypic association analyses with copy number variation in recurrent depressive disorder.
    Biol Psychiatry. 2015 Feb 25. pii: S0006-3223(15)00150-X.
  913. Yorifuji T, Matsubara K, Sakakibara A, Hashimoto Y, Kawakita R, Hosokawa Y, Fujimaru R, Murakami A, Tamagawa N, Hatake K, Nagasaka H, Suzuki J, Urakami T, Izawa M, Kagami M.
     Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes.
    Diabet Med. 2015 Jul;32(7):963-967.
  914. Liu W, Zhang H, Wang J, Yu G, Qiu W, Li Z, Chen M, Choy KW, Sun X.
     Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations.
    Mol Cytogenet. 2015 Nov 4;8:85.
  915. Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K.
     Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
    Am J Med Genet A. 2016 Mar;170(3):559-564.
  916. Ogata T, Kagami M.
    Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.
     J Hum Genet. 2016 Feb;61(2):87-94. 
  917. Sellmann L, Scholtysik R, de Beer D, Eisele L, Klein-Hitpass L, Nückel H, Dührsen U, Dürig J, Röth A, Baerlocher GM.
    Shorter telomeres correlate with an increase in the number of uniparental disomies in patients with chronic lymphocytic leukemia.
    Leuk Lymphoma    . 2016 Mar;57(3):590-595
  918. Matsubara K, Murakami N, Fukami M, Kagami M, Nagai T, Ogata T.
     Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat.
    Clin Genet    . 2016 May;89(5):614-9
  919. Lopes F, Barbosa M, Ameur A, Soares G, de Sá J, Dias AI, Oliveira G, Cabral P, Temudo T, Calado E, Cruz IF, Vieira JP, Oliveira R, Esteves S, Sauer S, Jonasson I, Syvänen AC, Gyllensten U, Pinto D, Maciel P.
     Identification of novel genetic causes of Rett syndrome-like phenotypes.
    J Med Genet. 2016 Mar;53(3):190-199.
  920. Darcy D, Atwal PS, Angell C, Gadi I, Wallerstein R.
    Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
    Am J Med Genet A. 2015 Oct;167A(10):2463-2469.
  921. Hirsch HJ, Eldar-Geva T, Bennaroch F, Pollak Y, Gross-Tsur V.
    Sexual dichotomy of gonadal function in Prader-Willi syndrome from early infancy through the fourth decade.
    Hum Reprod. 2015 Nov;30(11):2587-2596.
  922. Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Müller T.
    Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
    Hum Mol Genet. 2015 Dec 1;24(23):6614-6623.
  923. Shibata A, Sugiura K, Suzuki A, Ichiki T, Akiyama M.
    Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall.
    J Dermatol Sci. 2015 Dec;80(3):196-202. 
  924. Iourov IY, Vorsanova SG, Korostelev SA, Zelenova MA, Yurov YB.
    Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.
    Mol Cytogenet. 2015 Oct 15;8:77.
  925. Nicita F, Garone G, Papetti L, Consoli F, Magliozzi M, De Luca A, Spalice A.
    Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.
    J Neurogenet. 2015 Dec;29(4):178-182.
  926. Au PK, Kan AS, Tang MH, Leung KY, Chan KY, Tang TW, Lau ET.
    A fetus with Hb Bart's disease due to maternal uniparental disomy for chromosome 16.
    Hemoglobin. 2016;40(1):66-69.
  927. Bonnot O, Cohen D, Thuilleaux D, Consoli A, Cabal S, Tauber M.
    Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature.
    Eur J Pediatr. 2016 Jan;175(1):9-18.
  928. Butler MG, Manzardo AM, Forster JL.
    "Prader-Willi Syndrome: Clinical genetics and diagnostic aspects with treatment approaches".
    Curr Pediatr Rev    . 2016;12(2):136-166.
  929. Marczak-Hałupka A, Kalina MA, Tańska A, Chrzanowska KH.
    Silver-Russell Syndrome - Part I: Clinical characteristics and genetic background.
     Pediatr Endocrinol Diabetes Metab. 2015;20(3):101-106.
  930. Gito M, Ihara H, Ogata H, Sayama M, Murakami N, Nagai T, Ayabe T, Oto Y, Shimoda K.
    Gender differences in the behavioral symptom severity of Prader-Willi syndrome.
    Behav Neurol. 2015;2015:294127.
  931. Zhu R, Zhu X, Wang Y, Li J, Ru T, Yang Y.
    [Application of chromosome microarray analysis for prenatal diagnosis of a fetus with partial duplication of 1p and uniparental disomy of chromosome 6].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi    . 2015 Dec 10;32(6):819-22. doi: 10.3760/cma.j.issn.1003-9406.2015.06.014. Chinese.
  932. Giovannoni I, Callea F, Bellacchio E, Torre G, De Ville De Goyet J, Francalanci P.
     Genetics and molecular modeling of new mutations of familial intrahepatic cholestasis in a single Italian center.
    PLoS One. 2015 Dec 17;10(12):e0145021.
  933. Pajusalu S, Žilina O, Yakoreva M, Tammur P, Kuuse K, Mölter-Väär T, Nõukas M, Reimand T, Õunap K.
    The diagnostic utility of single long contiguous stretches of homozygosity in patients without parental consanguinity.
    Mol Syndromol. 2015 Sep;6(3):135-140.
  934. Omokawa M, Ayabe T, Nagai T, Imanishi A, Omokawa A, Nishino S, Sagawa Y, Shimizu T, Kanbayashi T.
    Decline of CSF orexin (hypocretin) levels in Prader-Willi syndrome.
    Am J Med Genet A    . 2016 May;170(5):1181-1186.
  935. Ohtsuka Y, Higashimoto K, Oka T, Yatsuki H, Jozaki K, Maeda T, Kawahara K, Hamasaki Y, Matsuo M, Nishioka K, Joh K, Mukai T, Soejima H.
     Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.
    Hum Mol Genet. 2016 Apr 1;25(7):1406-1419.
  936. Zhang K, Liu S, Feng B, Yang Y, Zhang H, Dong R, Liu Y, Gai Z.
    Clinical application of an innovative multiplex-fluorescent-labeled STRs assay for Prader-Willi syndrome and Angelman syndrome.
    PLoS One. 2016 Feb 3;11(2):e0147824.
  937. Donovan FX, Kimble DC, Kim Y, Lach FP, Harper U, Kamat A, Jones M, Sanborn EM, Tryon R, Wagner JE, MacMillan ML, Ostrander EA, Auerbach AD, Smogorzewska A, Chandrasekharappa SC.
    Paternal or maternal uniparental disomy of chromosome 16 resulting in homozygosity of a mutant allele causes Fanconi anemia.
    Hum Mutat    . 2016 May;37(5):465-468.
  938. Sebire NJ, May PC, Kaur B, Seckl MJ, Fisher RA.
     Abnormal villous morphology mimicking a hydatidiform mole associated with paternal trisomy of chromosomes 3,7,8 and unipaternal disomy of chromosome 11.
    Diagn Pathol. 2016 Feb 4;11(1):20.
  939. Güemes M, Shah P, Roženková K, Gilbert C, Morgan K, Hussain K.
    Severe hyperinsulinaemic hypoglycaemia in Beckwith-Wiedemann syndrome due to paternal uniparental disomy of 11p15.5 managed with sirolimus therapy.
    Horm Res Paediatr    . 2016;85(5):353-7.
  940. Shin EH, Cho E, Lee CG.
     Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos.
    Brain Dev    . 2016 Aug;38(7):669-73
  941. Stalman SE, Kamp GA, Hendriks YM, Hennekam RC, Rotteveel J.
    Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14.
     Clin Endocrinol (Oxf). 2015 Nov;83(5):671-676.
  942. Hu YA, Cui Y, Fan X, Wu Q, Li W, Wang W.
    Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22.
     Mol Cytogenet. 2016 May 3;9:37.
  943. Mussa A, Russo S, de Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Silengo MC, Larizza L, Riccio A, Ferrero GB.
    Fetal growth patterns in Beckwith-Wiedemann syndrome.
     Clin Genet. 2016 Jul;90(1):21-7.
  944. Lambrecht A, Pichard S, Maurey H, Segarra NG, Drunat S, Acquaviva-Bourdain C, Passemard S, Benoist JF, Fauret-Amsellem AL, Schiff M.
    Angelman syndrome and isovaleric acidemia: What is the link?
     Mol Genet Metab Rep. 2015 Mar 30;3:36-8.
  945. Aypar U, Hoppman NL, Thorland EC, Dawson DB.
     Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features.
    Mol Cytogenet. 2016 Mar 22;9:26. 
  946. Balbeur S, Grisart B, Parmentier B, Sartenaer D, Leonard PE, Ullmann U, Boulanger S, Leroy L, Ngendahayo P, Lungu-Silviu C, Lysy P, Maystadt I.
     Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.
    Clin Case Rep. 2016 Feb 2;4(3):265-71.
  947. Halder A, Jain M, Kalsi AK.
    SNP microarray in FISH negative clinically suspected 22q11.2 microdeletion syndrome.
     Scientifica (Cairo). 2016;2016:5826431.
  948. Luk HM, Ivan Lo FM, Sano S, Matsubara K, Nakamura A, Ogata T, Kagami M.
     Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis.
    Am J Med Genet A. 2016 Jul;170(7):1938-41. 
  949. Kocaay P, Şiklar Z, Ellard S, Yagmurlu A, Çamtosun E, Erden E, Berberoglu M, Flanagan SE.
    Coexistence of mosaic uniparental isodisomy and a KCNJ11 mutation presenting as diffuse congenital hyperinsulinism and hemihypertrophy.
     Horm Res Paediatr. 2016;85(6):421-5.
  950. Li N, Ding YU, Yu T, Li J, Shen Y, Wang X, Fu Q, Shen Y, Huang X, Wang J.
    Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.
     Exp Ther Med. 2016 Jun;11(6):2247-2253.
  951. Cao B, Yan H, Guo M, Xie H, Wu Y, Gu Q, Xiao J, Shang J, Yang Y, Xiong H, Niu Z, Wu X, Jiang Y, Wang J.
    Ten novel mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts and a long-term follow-up research.
     PLoS One. 2016 Jun 20;11(6):e0157258. 
  952. Vecchio D, Giuffrè M.
    The coat-hanger angle sign.
     J Pediatr. 2016 Oct;177:325-325.e1
  953. Lazier J, Martin N, Stavropoulos JD, Chitayat D.
    Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures.
    Am J Med Genet A    . 2016, 170: 3227–3230
  954. Niida Y, Yokoi A, Kuroda M, Mitani Y, Nakagawa H, Ozaki M.
    A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1.
     Brain Dev. 2016 Aug;38(7):674-7.
  955. Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, De León DD, Stanley CA, Deardorff MA.
     Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
    J    Med Genet. 2016 Jan;53(1):53-61.
  956. Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L.
     Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
    Neurology. 2016 Jul 12;87(2):186-91.
  957. Yuan H, Xie Y, Li Q, Hu X, Li X, Sun X, Zhao W.
    Paternal uniparental disomy of chromosome 14 with hypospadias.
     Cytogenet Genome Res. 2016;148(4):256-61.
  958. Zhang S, Qin H, Wang J, OuYang L, Luo S, Fu C, Fan X, Su J, Chen R, Xie B, Hu X, Chen S, Shen Y.
    Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.
     Mol Cytogenet. 2016 Aug 24;9(1):66.
  959. Graham JM Jr, Zadeh N, Kelley M, Tan ES, Liew W, Tan V, Deardorff MA, Wilson GN, Sagi-Dain L, Shalev SA.
    KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.
     Am J Med Genet A. 2016 Oct;170(10):2632-7.
  960. Ahram DF, Stambouli D, Syrogianni A, Al-Sarraj Y, Gerou S, El-Shanti H, Kambouris M.
    Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder.
    Clin Case Rep    . 2016 Oct 21;4(12):1125-1131.
  961. Zhou S, Wang H, Wang QK, Wang P, Wang F, Xu C.
    Loss of heterozygosity detected at three short tandem repeat locus commonly used for human DNA identification in a case of paternity testing.
    Leg Med (Tokyo). 2017 Jan;24:7-11.
  962. Alabdullatif MA, Al Dhaibani MA, Khassawneh MY, El-Hattab AW.
    Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.
    Clin Genet. 2017 Apr;91(4):616-622.
  963. Scheuvens R, Begemann M, Soellner L, Meschede D, Raabe-Meyer G, Elbracht M, Schubert R, Eggermann T.
    Maternal uniparental disomy of chromosome 16 (upd(16)mat): Clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.
    Clin Genet    . 2017 Jul;92(1):45-51
  964. Leung WC, Lau WL, Lo TK, Lau TK, Lam YY, Kan A, Chan K, Lau ET, Tang MH.
    Two IUGR foetuses with maternal uniparental disomy of chromosome 6 or UPD(6)mat.
    J Obstet Gynaecol    . 2017 Jan;37(1):113-115
  965. Park HS, Kim CG, Hong N, Lee SJ, Seo DH, Rhee Y.
    Osteosarcoma in a patient with pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q.
    Bone Miner Res    . 2017 Apr;32(4):770-775
  966. Fernández-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, Nascimento A, Ortez C, Romero N, Palacios L, Jimenez-Mallebrera C, Jou C, Gouveia S, Couce ML.
    Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.
    Neuromuscul Disord    . 2017 Feb;27(2):188-192.
  967. Wang Y, Cheng Q, Meng L, Luo C, Hu H, Zhang J, Cheng J, Xu T, Jiang T, Liang D, Hu P, Xu Z.
    Clinical application of SNP array analysis in first-trimester pregnancy loss: a prospective study.
    Clin Genet    . 2017 Jun;91(6):849-858
  968. Panzer K, Ekhaguere O, Darbro B, Jennifer C, Shchelochkov O.
    Uniparental isodisomy of chromosome 1 unmasking an autosomal recessive 3-beta hydroxysteroid dehydrogenase type II related congenital adrenal hyperplasia.
     J Clin Res Pediatr Endocrinol. 2017 Mar 1;9(1):70-73
  969. Luk HM.
    Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population.
    J Pediatr Endocrinol Metab    . 2017 Jan 1;30(1):89-95.
  970. Luk HM, Yeung KS, Wong WL, Chung BH, Tong TM, Lo IF.
    Silver-Russell syndrome in Hong Kong.
    Hong Kong Med J    . 2016 Dec;22(6):526-33.
  971. Fudvoye J, Farhat K, De Halleux V, Nicolescu CR.
     6q24 transient neonatal diabetes - How to manage while waiting for genetic results.
    Front Pediatr    . 2016 Nov 17;4:124.
  972. Niida Y, Sato H, Ozaki M, Itoh M, Ikeno K, Takase E.
    Angelman syndrome caused by chromosomal rearrangements: A case report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an atypical phenotype and review of the literature.
    Cytogenet Genome Res    . 2016;149(4):247-257. 
  973. Yu T, Li J, Li N, Liu R, Ding Y, Chang G, Chen Y, Shen Y, Wang X, Wang J.
    Obesity and developmental delay in a patient with uniparental disomy of chromosome 2.
     Int J Obes (Lond). 2016 Dec;40(12):1935-1941. 
  974. White M, McGillivray G, White SM, Zacharin MR.
    First report of congenital adrenal cysts and pheochromocytoma in a patient with mosaic genome-wide paternal uniparental disomy.
    Am J Med Genet A. 2016 Dec;170(12):3352-3355.
  975. Dasi MA, Gonzalez-Conejero R, Izquierdo S, Padilla J, Garcia JL, Garcia-Barberá N, Argilés B, de la Morena-Barrio ME, Hernández-Sánchez JM, Hernández-Rivas JM, Vicente V, Corral J.
    Uniparental disomy causes deficiencies of vitamin K-dependent proteins.
    J Thromb Haemost. 2016 Dec;14(12):2410-2418.
  976. Šafka Brožková D, Paulasová Schwabová J, Neupauerová J, Sabová J, Krůtová M, Peřina V, Trková M, Laššuthová P, Seeman P.
    HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.
     J Hum Genet. 2017 Mar;62(3):431-435
  977. Fletcher E, Porteous M, Maher E, McKenzie KJ, Evans MJ.
     Fetal dysmorphology - still an essential art. Analysis of the limitations of Microarray in a fetal population and a look toward the genome sequencing era.
    Pediatr Dev Pathol. 2017 Jul-Aug;20(4):288-297
  978. Palkar P, Kabasakalian A, Taylor B, Doernberg E, Ferretti CJ, Uzunova G, Hollander E.
    Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY.
    Intractable Rare Dis Res. 2016 Aug;5(3):235-7.
  979. Coupaye M, Tauber M, Cuisset L, Laurier V, Bieth E, Lacorte JM, Oppert JM, Clément K, Poitou C.
    Effect of genotype and previous GH treatment on adiposity in adults with Prader-Willi syndrome.
    J Clin Endocrinol Metab. 2016 Dec;101(12):4895-4903.
  980. Travaglini L, Aiello C, Alesi V, Loddo S, Novelli A, Tozzi G, Bertini E, Leuzzi V, Brancati F.
    Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.
     Brain Dev. 2017 Feb;39(2):182-183. 
  981. Niida Y, Yokoi A, Kuroda M, Mitani Y, Nakagawa H, Ozaki M.
    Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.
    Brain Dev. 2017 Feb;39(2):184-185.
  982. Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ.
    DNA methylation profiling of uniparental disomy subjects provides a map of parental epigenetic bias in the human genome.
     Am J Hum Genet. 2016 Sep 1;99(3):555-66.
  983. Samango-Sprouse C, Kırkızlar E, Hall MP, Lawson P, Demko Z, Zneimer SM, Curnow KJ, Gross S, Gropman A.
    Incidence of X and Y chromosomal aneuploidy in a large child bearing population.
    PLoS One. 2016 Aug 11;11(8):e0161045. 
  984. Schmeh I, Kidszun A, Lausch E, Bartsch O, Mildenberger E.
    Chest radiograph as diagnostic clue in a floppy infant.
     J Pediatr. 2016 Oct;177:324-324.e1.
  985. Lin HY, Chuang CK, Tu RY, Fang YY, Su YN, Chen CP, Chang CY, Liu HC, Chu TH, Niu DM, Lin SP.
    Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.
    Mol Genet Metab. 2016 Sep;119(1-2):8-13.
  986. Fintini D, Grugni G, Bocchini S, Brufani C, Di Candia S, Corrias A, Delvecchio M, Salvatoni A, Ragusa L, Greggio N, Franzese A, Scarano E, Trifirò G, Mazzanti L, Chiumello G, Cappa M, Crinò A; Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED).
    Disorders of glucose metabolism in Prader-Willi syndrome: Results of a multicenter Italian cohort study.
    Nutr Metab Cardiovasc Dis. 2016 Sep;26(9):842-7.
  987. Soellner L, Begemann M, Mackay DJ, Grønskov K, Tümer Z, Maher ER, Temple IK, Monk D, Riccio A, Linglart A, Netchine I, Eggermann T.
    Recent advances in imprinting disorders.
     Clin Genet. 2017 Jan;91(1):3-13.
  988. Goto M, Kagami M, Nishimura G, Yamagata T.
    A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.
     Am J Med Genet A. 2016 Sep;170(9):2483-5.
  989. Kurth I, Baumgartner M, Schabhüttl M, Tomni C, Windhager R, Strom TM, Wieland T, Gremel K, Auer-Grumbach M.
    Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.
     Am J Med Genet B Neuropsychiatr Genet. 2016 Sep;171(6):875-8. 
  990. Luk HM, Lo IF.
    Angelman syndrome in Hong Kong Chinese: A 20 years' experience.
     Eur J Med Genet. 2016 Jun;59(6-7):315-9. 
  991. Magaard Koldby K, Nygaard M, Christensen K, Christiansen L.
    Somatically acquired structural genetic differences: a longitudinal study of elderly Danish twins.
     Eur J Hum Genet. 2016 Oct;24(10):1506-10.
  992. Machiela MJ, Zhou W, Sampson JN, Dean MC, Jacobs KB, Black A, Brinton LA, Chang IS, Chen C, Chen C, Chen K, Cook LS, Crous Bou M, De Vivo I, Doherty J, Friedenreich CM, Gaudet MM, Haiman CA, Hankinson SE, Hartge P, Henderson BE, Hong YC, Hosgood HD 3rd, Hsiung CA, Hu W, Hunter DJ, Jessop L, Kim HN, Kim YH, Kim YT, Klein R, Kraft P, Lan Q, Lin D, Liu J, Le Marchand L, Liang X, Lissowska J, Lu L, Magliocco AM, Matsuo K, Olson SH, Orlow I, Park JY, Pooler L, Prescott J, Rastogi R, Risch HA, Schumacher F, Seow A, Setiawan VW, Shen H, Sheng X, Shin MH, Shu XO, VanDen Berg D, Wang JC, Wentzensen N, Wong MP, Wu C, Wu T, Wu YL, Xia L, Yang HP, Yang PC, Zheng W, Zhou B, Abnet CC, Albanes D, Aldrich MC, Amos C, Amundadottir LT, Berndt SI, Blot WJ, Bock CH, Bracci PM, Burdett L, Buring JE, Butler MA, Carreón T, Chatterjee N, Chung CC, Cook MB, Cullen M, Davis FG, Ding T, Duell EJ, Epstein CG, Fan JH, Figueroa JD, Fraumeni JF Jr, Freedman ND, Fuchs CS, Gao YT, Gapstur SM, Patiño-Garcia A, Garcia-Closas M, Gaziano JM, Giles GG, Gillanders EM, Giovannucci EL, Goldin L, Goldstein AM, Greene MH, Hallmans G, Harris CC, Henriksson R, Holly EA, Hoover RN, Hu N, Hutchinson A, Jenab M, Johansen C, Khaw KT, Koh WP, Kolonel LN, Kooperberg C, Krogh V, Kurtz RC, LaCroix A, Landgren A, Landi MT, Li D, Liao LM, Malats N, McGlynn KA, McNeill LH, McWilliams RR, Melin BS, Mirabello L, Peplonska B, Peters U, Petersen GM, Prokunina-Olsson L, Purdue M, Qiao YL, Rabe KG, Rajaraman P, Real FX, Riboli E, Rodríguez-Santiago B, Rothman N, Ruder AM, Savage SA, Schwartz AG, Schwartz KL, Sesso HD, Severi G, Silverman DT, Spitz MR, Stevens VL, Stolzenberg-Solomon R, Stram D, Tang ZZ, Taylor PR, Teras LR, Tobias GS, Viswanathan K, Wacholder S, Wang Z, Weinstein SJ, Wheeler W, White E, Wiencke JK, Wolpin BM, Wu X, Wunder JS, Yu K, Zanetti KA, Zeleniuch-Jacquotte A, Ziegler RG, de Andrade M, Barnes KC, Beaty TH, Bierut LJ, Desch KC, Doheny KF, Feenstra B, Ginsburg D, Heit JA, Kang JH, Laurie CA, Li JZ, Lowe WL, Marazita ML, Melbye M, Mirel DB, Murray JC, Nelson SC, Pasquale LR, Rice K, Wiggs JL, Wise A, Tucker M, Pérez-Jurado LA, Laurie CC, Caporaso NE, Yeager M, Chanock SJ.
    Characterization of large structural genetic mosaicism in human autosomes.
    Am J Hum Genet    . 2015 Mar 5;96(3):487-97. doi: 10.1016/j.ajhg.2015.01.011.
  993. Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YW, Mok GT, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P.
     Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
    Hum Genet    . 2016 May;135(5):569-86.
  994. McFadden P, Smithson S, Massaro R, Huang J, Prado G, Shertz W.
    Monozygotic twins discordant for trisomy 13; A case of trisomic rescue supporting the continued need for first trimester ultrasound.
    Pediatr Dev Pathol. 2017 Jul-Aug;20(4):340-347.
  995. Hussain K.
     Coexistence of mosaic uniparental isodisomy and a KCNJ11 mutation presenting is diffuse congenital hyperinsulinism and hemihypertrophy.
    Horm Res Paediatr. 2016;85(6):426-7. 
  996. Chen CP, Chen M, Wang LK, Chern SR, Wu PS, Chen SW, Lai ST, Chang SP, Yang CW, Pan CW, Wang W.
    Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9.
    Taiwan J Obstet Gynecol. 2017 Aug;56(4):527-533.
  997. Myers KA, Bennett MF, Chow CW, Carden SM, Mandelstam SA, Bahlo M, Scheffer IE.
     Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.
    Am J Med Genet A. 2018 Jan;176(1):230-234.
  998. Kim T, Plona K, Wynshaw-Boris A.
    A novel system for correcting large-scale chromosomal aberrations: ring chromosome correction via reprogramming into induced pluripotent stem cell (iPSC).
    Chromosoma. 2017 Aug;126(4):457-463.
  999. Gueye NA, Devkota B, Taylor D, Pfundt R, Scott RT Jr, Treff NR.
    Uniparental disomy in the human blastocyst is exceedingly rare.
    Fertil Steril. 2014 Jan;101(1):232-6.
  1000. Northrop LE, Treff NR, Levy B, Scott RT Jr.
    SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts.
    Mol Hum Reprod. 2010 Aug;16(8):590-600.
  1001. Li J, Ding Y, Chang G, Cheng Q, Li X, Wang J, Wang X, Shen Y.
    [A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):68-72.
  1002. Yingjun X, Zhiyang H, Linhua L, Fangming S, Linhuan H, Jinfeng T, Qianying P, Xiaofang S.
     Chromosomal uniparental disomy 16 and fetal intrauterine growth restriction.
    Eur J Obstet Gynecol Reprod Biol. 2017 Apr;211:1-7.
  1003. Ashraf AP, Hurst ACE, Garg A.
    Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy.
    J Clin Lipidol. 2017 May - Jun;11(3):757-762.
  1004. Key AP, Dykens EM.
     Incidental memory for faces in children with different genetic subtypes of Prader-Willi syndrome.
    Soc Cogn Affect Neurosci. 2017 Jun 1;12(6):918-927.
  1005. Karger L, Khan WA, Calabio R, Singh R, Xiang B, Babu A, Cohen N, Yang AC, Scott SA.
    Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.
    Am J Med Genet A. 2017 May;173(5):1436-1439.
  1006. Bennett JA, Hodgetts S, Mackenzie ML, Haqq AM, Zwaigenbaum L.
    Investigating autism-related symptoms in children with Prader-Willi syndrome: A case study.
    Int J Mol Sci. 2017 Feb 28;18(3). pii: E517.
  1007. Su L, Lu Z, Li F, Shao Y, Sheng H, Cai Y, Liu L.
    Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.
    Metab Brain Dis. 2017 Jun;32(3):765-772.
  1008. Sanjeeva GN, Maganthi M, Kodishala H, Marol RKR, Kulshreshtha PS, Lorenzetto E, Kadandale JS, Hladnik U, Raghupathy P, Bhat M.
    Clinical and molecular characterization of Prader-Willi syndrome.
    Indian J Pediatr. 2017 Nov;84(11):815-821.
  1009. Reittinger AM, Helm BM, Boles DJ, Gadi IK, Schrier Vergano SA.
    A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies.
    Am J Med Genet A. 2017 Sep;173(9):2528-2533.
  1010. Liu S, Zhang K, Song F, Yang Y, Lv Y, Gao M, Liu Y, Gai Z.
    Uniparental disomy of chromosome 15 in two cases by chromosome microarray: A lesson worth thinking.
    Cytogenet Genome Res. 2017;152(1):1-8.
  1011. Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T.
    Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
    Genet Med. 2017 Dec;19(12):1356-1366.
  1012. Mussa A, Molinatto C, Cerrato F, Palumbo O, Carella M, Baldassarre G, Carli D, Peris C, Riccio A, Ferrero GB.
    Assisted reproductive techniques and risk of Beckwith-Wiedemann syndrome.
    Pediatrics. 2017 Jul;140(1). pii: e20164311.
  1013. Bruechle NO, Steuernagel P, Zerres K, Kurth I, Eggermann T, Knopp C.
    Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
    Pediatr Nephrol. 2017 Oct;32(10):1989-1992.
  1014. Knijnenburg J, Uytdewilligen MEW, van Hassel DACM, Oostenbrink R, Eussen BHJ, de Klein A, Brooks AS, van Zutven LJCM.
    Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity.
    Eur J Med Genet. 2017 Sep;60(9):445-450.
  1015. Dykens EM, Roof E, Hunt-Hawkins H, Dankner N, Lee EB, Shivers CM, Daniell C, Kim SJ.
    Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome.
    J Neurodev Disord. 2017 Jun 5;9:18.
  1016. Bertini V, Fogli A, Bruno R, Azzarà A, Michelucci A, Mattina T, Bertelloni S, Valetto A.
    Maternal uniparental disomy 14 (Temple syndrome) as a result of a Robertsonian translocation.
    Mol Syndromol. 2017 May;8(3):131-138.
  1017. Bis DM, Schüle R, Reichbauer J, Synofzik M, Rattay TW, Soehn A, de Jonghe P, Schöls L, Züchner S.
    Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.
    Mol Genet Genomic Med. 2017 Apr 5;5(3):280-286.
  1018. Manzardo AM, Weisensel N, Ayala S, Hossain W, Butler MG.
    Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults.
    Clin Genet. 2018 Mar;93(3):622-631.
  1019. Richard-De Ceaurriz B, Leymarie C, Godefroy A, Collignon P, Sigaudy S, Truc P.
    [Neonatal presentation of Prader-Willi syndrome: A report of five cases].
    Arch Pediatr. 2017 Nov;24(11):1115-1120.
  1020. Bocchini S, Fintini D, Grugni G, Boiani A, Convertino A, Crinò A.
    Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report.
    Ital J Pediatr. 2017 Sep 22;43(1):87.
  1021. Villela D, Costa SS, Vianna-Morgante AM, Krepischi ACV, Rosenberg C.
    Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.
    Eur J Med Genet. 2017 Dec;60(12):667-674.
  1022. Griffin NG, Cronin KD, Walley NM, Hulette CM, Grant GA, Mikati MA, LaBreche HG, Rehder CW, Allen AS, Crino PB, Heinzen EL.
    Somatic uniparental disomy of chromosome 16p in hemimegalencephaly.
    Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). pii: a001735.
  1023. Pertile MD, Halks-Miller M, Flowers N, Barbacioru C, Kinnings SL, Vavrek D, Seltzer WK, Bianchi DW.
    Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease.
    Sci Transl Med. 2017 Aug 30;9(405). pii: eaan1240.
  1024. Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC.
    A unique mutational spectrum of MLC1 in Korean patients with megalencephalic leukoencephalopathy with subcortical cysts: p.Ala275Asp founder mutation and maternal uniparental disomy of chromosome 22.
    Ann Lab Med. 2017 Nov;37(6):516-521.
  1025. Neumann U, Bührer C, Blankenstein O, Kühnen P, Raile K.
    Primary sulphonylurea therapy in a newborn with transient neonatal diabetes attributable to a paternal uniparental disomy 6q24 (UPD6).
    Diabetes Obes Metab. 2018 Feb;20(2):474-475.
  1026. Chantot-Bastaraud S, Stratmann S, Brioude F, Begemann M, Elbracht M, Graul-Neumann L, Harbison M, Netchine I, Eggermann T.
    Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.
    Mol Cytogenet. 2017 Jul 25;10:28.
  1027. Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, Harbison MD.
    A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.
    J Med Genet. 2015;52:446–453.
  1028. Hwang S, Rudd MK, Finch L, Peterson SE, Kapur RP.
    VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5.
    Am J Med Genet A. 2018 Feb;176(2):502-504.
  1029. Tümer Z, López-Hernández JA, Netchine I, Elbracht M, Grønskov K, Gede LB, Sachwitz J, den Dunen JT, Eggermann T.
    Structural and sequence variants in patients with Silver-Russell syndrome or similar features - Curation of a disease database.
    Hum Mutat. 2018 Mar;39(3):345-364.
  1030. Kim SY, Jung SH, Kim MS, Han MR, Park HC, Jung ES, Lee SH, Lee SH, Chung YJ.
    Genomic profiles of a hepatoblastoma from a patient with Beckwith-Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2.
    Oncotarget. 2017 Aug 24;8(54):91950-91957.
  1031. Eggermann T, Oehl-Jaschkowitz B, Dicks S, Thomas W, Kanber D, Albrecht B, Begemann M, Kurth I, Beygo J, Buiting K.
    The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?
    Mol Genet Genomic Med. 2017 Nov;5(6):668-677.
  1032. Myers KA, Bennett MF, Chow CW, Carden SM, Mandelstam SA, Bahlo M, Scheffer IE.
    Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.
    Am J Med Genet A. 2018 Jan;176(1):230-234.
  1033. Li X, Liu Y, Yue S, Wang L, Zhang T, Guo C, Hu W, Kagan KO, Wu Q.
    Uniparental disomy and prenatal phenotype: Two case reports and review.
    Medicine (Baltimore). 2017 Nov;96(45):e8474.
  1034. Lande A, Kroken M, Rabben K, Retterstøl L.
    Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.
    Am J Med Genet A. 2018 Jan;176(1):175-180.
  1035. Reed JA, Crotwell PL, Stein Q, Mroch A, Davis-Keppen L, Khan A.
    Case report of infant with features of Beckwith-Wiedemann syndrome diagnosed with genome-wide uniparental disomy.
    S D Med. 2017 Nov;70(11):505-509.
  1036. Su J, Wang J, Fan X, Fu C, Zhang S, Zhang Y, Qin Z, Li H, Luo J, Li C, Jiang T, Shen Y.
    Mosaic UPD(7q)mat in a patient with Silver Russell syndrome.
    Mol Cytogenet. 2017 Oct 17;10:36.
  1037. Cao BY, Gong CX, Wu D, Li XQ.
    Permanent neonatal diabetes caused by abnormalities in chromosome 6q24.
    Diabet Med. 2017 Dec;34(12):1800-1804.
  1038. Bens S, Luedeke M, Richter T, Graf M, Kolarova J, Barbi G, Lato K, Barth TF, Siebert R.
    Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge.
    Clin Epigenetics. 2017 Oct 13;9:111.
  1039. Gerbrands LC, Haarman EG, Hankel MA, Finken MJJ.
    Cystic fibrosis and Silver-Russell syndrome due to a partial maternal isodisomy of chromosome 7.
    Clin Case Rep. 2017 Sep 8;5(10):1697-1700.
  1040. Rigamonti AE, Crinò A, Bocchini S, Convertino A, Bidlingmaier M, Haenelt M, Tamini S, Cella SG, Grugni G, Sartorio A.
    GHRH plus arginine and arginine administration evokes the same ratio of GH isoforms levels in young patients with Prader-Willi syndrome.
    Growth Horm IGF Res. 2017 Nov 27. pii: S1096-6374(17)30108-9.
  1041. Takenouchi T, Inaba M, Uehara T, Takahashi T, Kosaki K, Mizuno S.
    Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.
    Am J Med Genet A. 2018 Feb;176(2):431-437.
  1042. Qu S, Wang L, Cai A, Cui S, Bai N, Liu N, Kong X.
    Exploring the cause of early miscarriage with SNP-array analysis and karyotyping.
    J Matern Fetal Neonatal Med. 2017 Oct 16:1-10.
  1043. Surti U, Yatsenko S, Hu J, Bellissimo D, Parks WT, Hoffner L.
    Maternal GRB10 microdeletion is a novel cause of cystic placenta: Spectrum of genomic changes in the etiology of enlarged cystic placenta.
    Placenta. 2017 Sep;57:33-41.
  1044. Helm BM, Willer JR, Sadeghpour A, Golzio C, Crouch E, Vergano SS, Katsanis N, Davis EE.
     Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
    Hum Genomics. 2017 Jul 19;11(1):16.
  1045. Kohmoto T, Okamoto N, Naruto T, Murata C, Ouchi Y, Fujita N, Inagaki H, Satomura S, Okamoto N, Saito M, Masuda K, Kurahashi H, Imoto I.
    A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.
    Mol Cytogenet. 2017 Apr 28;10:15.
  1046. Batista RL, Rodrigues AS, Nishi MY, Feitosa ACR, Gomes NLRA, Junior JAF, Domenice S, Costa EMF, de Mendonça BB.
    Heterozygous nonsense mutation in the androgen receptor gene associated with partial androgen insensitivity syndrome in an individual with 47,XXY karyotype.
    Sex Dev. 2017;11(2):78-81.
  1047. Sun C, Pei Z, Zhang M, Sun B, Yang L, Zhao Z, Cheng R, Luo F.
    Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.
    J Diabetes. 2018 Jan;10(1):50-58.
  1048. Bravo García-Morato M, Nevado J, González-Granado LI, Sastre Urgelles A, Rodríguez Pena R, Ferreira Cerdán A.
    Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16.
    J Allergy Clin Immunol Pract. 2017 Jul - Aug;5(4):1146-1148.
  1049. Tello C, Darling A, Lupo V, Ortez CI, Pérez-Dueñas B, Espinós C.
    Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization.
    Clin Genet. 2017 Jul;92(1):117-118.
  1050. Massalska D, Bijok J, Ilnicka A, Jakiel G, Roszkowski T.
     Triploidy - variability of sonographic phenotypes.
    Prenat Diagn. 2017 Aug;37(8):774-780.
  1051. Santoro SL, Hashimoto S, McKinney A, Mihalic Mosher T, Pyatt R, Reshmi SC, Astbury C, Hickey SE.
    Assessing the clinical utility of SNP microarray for Prader-Willi syndrome due to uniparental disomy.
    Cytogenet Genome Res. 2017;152(2):105-109.
  1052. Begemann M, Spengler S, Gogiel M, Grasshoff U, Bonin M, Betz RC, Dufke A, Spier I, Eggermann T.
     Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.
    J Med Genet. 2012 Sep;49(9):547-53.
  1053. Haug MG, Brendehaug A, Houge G, Kagami M, Ogata T.
     Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome.
    Clin Case Rep    . 2017 Nov 28;6(1):91-95.
  1054. Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M.
     A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.
    J Hum Genet    . 2018 Mar;63(3):377-381.
  1055. Nakamura A, Muroya K, Ogata-Kawata H, Nakabayashi K, Matsubara K, Ogata T, Kurosawa K, Fukami M, Kagami M.
     A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth.
    J Med Genet. 2018 Aug;55(8):567-570.
  1056. Gillessen-Kaesbach G, Albrecht B, Eggermann T, Elbracht M, Mitter D, Morlot S, van Ravenswaaij-Arts CMA, Schulz S, Strobl-Wildemann G, Buiting K, Beygo J.
     Molecular and clinical studies in eight patients with Temple syndrome.
    Clin Genet. 2018 Jun;93(6):1179-1188.
  1057. Grati FR, Gallazzi G, Branca L, Maggi F, Simoni G, Yaron Y.
     An evidence-based scoring system for prioritizing mosaic aneuploid embryos following preimplantation genetic screening.
    Reprod Biomed Online. 2018 Apr;36(4):442-449.
  1058. Grati FR.
     Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis.
    J Clin Med. 2014 Jul 24;3(3):809-37.
  1059. Grati FR, Grimi B, Frascoli G, Di Meco AM, Liuti R, Milani S, Trotta A, Dulcetti F, Grosso E, Miozzo M, Maggi F, Simoni G.
     Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi.
    Eur J Hum Genet. 2006 Mar;14(3):282-8.
  1060. Krishnadas R, Cooper SA, Nicol A, Pimlott S, Soni S, Holland AJ, McArthur L, Cavanagh J.
     Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader-Willi syndrome.
    Br J Psychiatry. 2018 Jan;212(1):57-58.
  1061. Shen W, Young BA, Bosworth M, Wright KE, Lamb AN, Ji Y.
     Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome.
    Clin Genet. 2018 Jun;93(6):1248-1249.
  1062. Cassini TA, Robertson AK, Bican AG, Cogan JD, Hannig VL, Newman JH, Hamid R, Phillips JA 3rd; Undiagnosed Diseases Network.
     Phenotypic heterogeneity of ZMPSTE24 deficiency.
    Am J Med Genet A    . 2018 May;176(5):1175-1179.
  1063. Bravo García-Morato M, Aracil Santos FJ, Briones AC, Blázquez Moreno A, Del Pozo Maté Á, Domínguez-Soto Á, Beato Merino MJ, Del Pino Molina L, Torres Canizales J, Marin AV, Vallespín García E, Feito Rodríguez M, Plaza López Sabando D, Jiménez-Reinoso A, Mozo Del Castillo Y, Sanz Santaeufemia FJ, de Lucas-Laguna R, Cárdenas P, Casamayor Polo L, Coronel Díaz M, Valés-Gómez M, Roldán Santiago E, Ferreira Cerdán A, Nevado Blanco J, Corbí ÁL, Reyburn HT, Regueiro JR, López-Granados E, Rodríguez Pena R.
     New human combined immunodeficiency due to IRF4 deficiency inherited by uniparental isodisomy.
    J Allergy Clin Immunol. 2018 Feb 2. pii: S0091-6749(18)30119-2.
  1064. Kohl S, Baumann B, Mayer AK, Wissinger B.
    CNGA3-associated autosomal recessive achromatopsia caused by uniparental isodisomy of chromosome 2.
    Abstracts of ESHG meeting Copenhagen, 2017, P02.42B. 
  1065. Al-Rikabi ABH, Pekova S, Fan X, Jančušková T, Liehr T.
    Small supernumerary marker chromosome may provide information on dosage-insensitive pericentric regions in human.
    Curr Genomics 2018; 19:192-199.
  1066. Manheimer KB, Patel N, Richter F, Gorham J, Tai AC, Homsy J, Boskovski MT, Parfenov M, Goldmuntz E, Chung WK, Brueckner M, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE, Gelb BD, Sharp AJ.
     Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
    Hum Mutat    . 2018 Jun;39(6):870-881.
  1067. Bramswig NC, Buiting K, Bechtel N, Horsthemke B, Rostasy K, Wieczorek D.
    Angelman syndrome-affected individual with a numerically normal karyotype and isodisomic paternal uniparental disomy of chromosome 15 due to maternal Robertsonian Translocation (14;15) by monosomy rescue.
    Cytogenet Genome Res.     2018;156(1):9-13
  1068. Hoppman N, Rumilla K, Lauer E, Kearney H, Thorland E.
     Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays.
    Genet Med. 2018 Dec;20(12):1522-1527.
  1069. Kim A, Fujimoto M, Hwa V, Backeljauw P, Dauber A.
    Adrenal insufficiency, sex reversal, and Angelman syndrome due to uniparental disomy unmasking a mutation in CYP11A1.
    Horm Res Paediatr    . 2018;89(3):205-210.
  1070. Tones M, Cross M, Simons C, Napier KR, Hunter A, Bellgard MI, Heussler H.
    Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry.
    J Intellect Disabil Res    . 2018 May;62(5):431-443.
  1071. Borgulová I, Soldatova I, Putzová M, Malíková M, Neupauerová J, Marková SP, Trková M, Seeman P.
    Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy.
    J Hum Genet    . 2018 Jul;63(7):803-810.
  1072. Guzmán-Alberto JC, Martínez-Cortes G, Rangel-Villalobos H.
    Inference of maternal uniparental disomy of the entire chromosome 2 from a paternity test.
    Int J Legal Med. 2019 Jan;133(1):71-75.
  1073. Niida Y, Ozaki M, Shimizu M, Ueno K, Tanaka T.
     Classification of uniparental isodisomy patterns that cause autosomal recessive disorders: proposed mechanisms of different proportions and parental origin in each pattern.
    Cytogenet Genome Res. 2018; 154(3):137-146.
  1074. Cuellar Partida G, Laurin C, Ring SM, Gaunt TR, McRae AF, Visscher PM, Montgomery GW, Martin NG, Hemani G, Suderman M, Relton CL, Davey Smith G, Evans DM.
    Genome-wide survey of parent-of-origin effects on DNA methylation identifies candidate imprinted loci in human.
     Hum Mol Genet. 2018 Aug 15;27(16):2927-2939.
  1075. Erger F, Burau K, Elsässer M, Zimmermann K, Moog U, Netzer C.
    Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses.
     Eur J Hum Genet. 2018; 26:1392-95.
  1076. Van Opstal D, van Veen S, Joosten M, Diderich KEM, Govaerts LCP, Polak J, van Koetsveld N, Boter M, Go ATJI, Papatsonis DNM, Prinsen K, Hoefsloot LH, Srebniak MI.
     Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.
    Prenat Diagn. 2019 Oct;39(11):1016-1025.
  1077. Rudd MK, Schleede JB, Williams SR, Lee K, Laffin J, Pasion R, Papenhausen PR.
    Monosomy X rescue explains discordant NIPT results and leads to uniparental isodisomy.
    Prenat Diagn. 2018 Nov;38(12):920-923.
  1078. Kerr ER, Stuhlmiller GM, Maha GC, Ladd MA, Mikhail FM, Koester RP, Hurst ACE
     Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.
    Mol Cytogenet. 2018 Dec 20;11:60.
  1079. Narayanan DL, Ranganath P, Balakrishnan S, Dalal A.
    Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype.
    Clin Dysmorphol. 2019 Oct;28(4):202-204.
  1080. Micleaa D, Al-Khzouza C, Osan S, Bucerzan S, Cret V, Popp RA, Puiu M, Chirita-Emandi A, Zimbru C, Ghervan C.
    Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability.
    J Pediatr Endocrinol Metab. 2019 Jul 26;32(7):667-674.
  1081. Tortora A, La Sala D, Lonardo F, Vitale M.
    Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected.
    BMJ Case Rep. 2019 May 10;12(5). pii: e228662.
  1082. Nakka P, Pattillo Smith S, O'Donnell-Luria AH, McManus KF; 23andMe Research Team, Mountain JL, Ramachandran S, Sathirapongsasuti JF.
    Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population.
    Am J Hum Genet    . 2019 Nov 7;105(5):921-932.
  1083. Torabi K, Erola P, Alvarez-Mora MI, Díaz-Gay M, Ferrer Q, Castells A, Castellví-Bel S, Milà M, Lozano JJ, Miró R, Ried T, Ponsa I, Camps J.
    Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers.
    Int J Cancer    . 2019 Feb 1;144(3):513-524.
  1084. Repnikova E, Roberts J, Kats A, Habeebu S, Schwager C, Joyce J, Manalang M, Amudhavalli SM.
    Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia.
    Clin Genet. 2018 Dec;94(6):564-568.
  1085. van Kuilenburg ABP, Meijer J, Meinsma R, Pérez-Dueñas B, Alders M, Bhuiyan ZA, Artuch R, Hennekam RCM.
    Dihydropyrimidine dehydrogenase deficiency: Homozygosity for an extremely rare variant in DPYD due to uniparental isodisomy of chromosome 1.
    JIMD Rep    . 2019;45:65-69.
  1086. Nakashima M, Negishi Y, Hori I, Hattori A, Saitoh S, Saitsu H.
    A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.
    Am J Med Genet A    . 2019 Apr;179(4):645-649.
  1087. Macnamara EF, Koehler AE, D'Souza P, Estwick T, Lee P, Vezina G; Undiagnosed Diseases Network, Fauni H, Braddock SR, Torti E, Holt JM, Sharma P, Malicdan MCV, Tifft CJ.
    Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
    Hum Mutat    . 2019 May;40(5):532-538.
  1088. Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM.
    Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
    Genet Med    . 2019 Nov;21(11):2644-2649.
  1089. Narayanan DL, Ranganath P, Balakrishnan S, Dalal A.
    Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype.
    Clin Dysmorphol    . 2019 Oct;28(4):202-204.
  1090. Daniels E, Alders M, Lezzerini M, McDonald A, Peters M, Kuijpers T, Lakeman P, Houtkooper R, MacInnes A.
    A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder.
    Cold Spring Harb Mol Case Stud    . 2019 Dec 13;5(6):a004457.
  1091. Chen M, Jiang J, Li C, Ren H, Chen W, Liu Z, Cheng F, Zhao J, Chen T, Chen C, Yan J.
    Non-pathological complete paternal uniparental isodisomy of chromosome 2 revealed in a maternity testing case.
    Int J Legal Med    . 2019 Jul;133(4):993-997.
  1092. Singh P, Mahmoud R, Gold JA, Miller JL, Roof E, Tamura R, Dykens E, Butler MG, Driscoll DJ, Kimonis V.
    Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome.
    J Med Genet    . 2018 Sep;55(9):594-598.
  1093. Brun BN, Willer T, Darbro BW, Gonorazky HD, Naumenko S, Dowling JJ, Campbell KP, Moore SA, Mathews KD.
    Uniparental disomy unveils a novel recessive mutation in POMT2.
    Neuromuscul Disord    . 2018 Jul;28(7):592-596.
  1094. Gold JA, Mahmoud R, Cassidy SB, Kimonis V.
    Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.
    Am J Med Genet A    . 2018 May;176(5):1161-1165.
  1095. Oldzej J, Manazir J, Gold JA, Mahmoud R, Osann K, Flodman P, Cassidy SB, Kimonis VE.
    Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome.
    Am J Med Genet A    . 2020 Jan;182(1):169-175.
  1096. Yorifuji T, Higuchi S, Hosokawa Y, Kawakita R.
    Chromosome 6q24-related diabetes mellitus.
    Clin Pediatr Endocrinol    . 2018;27(2):59-65.
  1097. Kawashima S, Nakamura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Takano K, Fukushima Y, Tatematsu T, Mizuno S, Tsubaki J, Kure S, Matsubara Y, Ogata T, Fukami M, Kagami M.
    Maternal uniparental disomy for chromosome 20: Physical and endocrinological characteristics of five patients.
    J Clin Endocrinol Metab    . 2018 Jun 1;103(6):2083-2088.
  1098. Johnson JP, Beischel L, Schwanke C, Styren K, Crunk A, Schoof J, Elias AF.
    Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome.
    J Assist Reprod Genet    . 2018 Jun;35(6):985-992.
  1099. Sun H, Lei C, Zhang S, Xiao M, Wu J, Wu J, Zhu S, Zhou J, Zhang Y.
    [Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi    . 2018 Jun 10;35(3):371-375.
  1100. Polubothu S, Glover M, Holder SE, Kinsler VA.
    Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis.
    Br J Dermatol    . 2018 Nov;179(5):1214-1215.
  1101. Yeung KS, Ho MSP, Lee SL, Kan ASY, Chan KYK, Tang MHY, Mak CCY, Leung GKC, So PL, Pfundt R, Marshall CR, Scherer SW, Choufani S, Weksberg R, Hon-Yin Chung B.
    Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.
    J Med Genet    . 2018 Dec;55(12):847-852.
  1102. Kawai M, Tsutsumi M, Suzuki F, Sameshima K, Dowa Y, Kyoya T, Inagaki H, Kurahashi H.
    Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.
    Eur J Med Genet    . 2019 Mar;62(3):224-228.
  1103. Li H, Liu M, Xie M, Zhang Q, Xiang J, Duan C, Ding Y, Liu Y, Mao J, Wang T, Li H.
    Submicroscopic chromosomal imbalances contribute to early abortion.
    Mol Cytogenet    . 2018 Jul 21;11:41.
  1104. Wan J, Li R, Zhang Y, Jing X, Yu Q, Li F, Li Y, Zhang L, Yi C, Li J, Li D, Liao C.
    Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice.
    Prenat Diagn    . 2018 Oct;38(11):849-857.
  1105. Oseni GO, Jain D, Mossey PA, Busch TD, Gowans LJJ, Eshete MA, Adeyemo WL, Laurie CA, Laurie CC, Owais A, Olaitan PB, Aregbesola BS, Oginni FO, Bello SA, Donkor P, Audu R, Onwuamah C, Obiri-Yeboah S, Plange-Rhule G, Ogunlewe OM, James O, Halilu T, Abate F, Abdur-Rahman LO, Oladugba AV, Marazita ML, Murray JC, Adeyemo AA, Butali A.
    Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts.
    Mol Genet Genomic Med    . 2018 Nov;6(6):924-932.
  1106. Su M, Benke PJ, Bademci G, Cengiz FB, Ouyang X, Peng J, Casas CE, Tekin M, Fan YS.
    Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.
    Mol Cytogenet    . 2018 Aug 1;11:43.
  1107. Souzeau E, Thompson JA, McLaren TL, De Roach JN, Barnett CP, Lamey TM, Craig JE.
    Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.
    Mol Vis    . 2018 Jul 21;24:478-484.
  1108. Rudd MK, Schleede JB, Williams SR, Lee K, Laffin J, Pasion R, Papenhausen PR.
    Monosomy X rescue explains discordant NIPT results and leads to uniparental isodisomy.
    Prenat Diagn    . 2018 Nov;38(12):920-923.
  1109. Shirzadeh T, Saeidian AH, Bagherian H, Salehpour S, Setoodeh A, Alaei MR, Youssefian L, Samavat A, Touati A, Fallah MS, Vahidnezhad H, Karimipoor M, Azadmehr S, Raeisi M, Bandehi Sarhadi A, Zafarghandi Motlagh F, Jamali M, Zeinali Z, Abiri M, Zeinali S; Additional individual contributors.
    Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
    J Inherit Metab Dis    . 2018 Nov;41(6):1159-1167.
  1110. Sato T, Samura O, Matsuoka T, Yoshida M, Aoki H, Migita O, Okamoto A, Hata K.
    Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests.
    Eur J Med Genet    . 2019 Jun;62(6):103533.
  1111. Inoue T, Yagasaki H, Nishioka J, Nakamura A, Matsubara K, Narumi S, Nakabayashi K, Yamazawa K, Fuke T, Oka A, Ogata T, Fukami M, Kagami M.
    Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology.
    J Med Genet    . 2019 Jun;56(6):413-418.
  1112. Kunwar F, Pabst R, Bakshi S.
    Intrauterine growth restriction associated with paternal isodisomy of chromosome 5: a clinical report and literature survey.
    J Matern Fetal Neonatal Med    . 2020 Mar;33(6):1027-1029.
  1113. Van Opstal D, Diderich KEM, Joosten M, Govaerts LCP, Polak J, Boter M, Saris JJ, Cheung WY, van Veen S, van de Helm R, Go ATJI, Knapen MFCM, Papatsonis DNM, Dijkman A, de Vries F, Galjaard RH, Hoefsloot LH, Srebniak MI.
    Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
    Prenat Diagn    . 2018 Nov;38(12):911-919.
  1114. Yakoreva M, Kahre T, Pajusalu S, Ilisson P, Žilina O, Tillmann V, Reimand T, Õunap K.
    A new case of a rare combination of Temple syndrome and mosaic trisomy 14 and a literature review.
    Mol Syndromol    . 2018 Jul;9(4):182-189.
  1115. Soler-Palacín P, Garcia-Prat M, Martín-Nalda A, Franco-Jarava C, Rivière JG, Plaja A, Bezdan D, Bosio M, Martínez-Gallo M, Ossowski S, Colobran R.
    LRBA deficiency in a patient with a novel homozygous mutation due to chromosome 4 segmental uniparental isodisomy.
    Front Immunol    . 2018 Oct 16;9:2397.
  1116. Davids M, Markello T, Wolfe LA, Chepa-Lotrea X, Tifft CJ, Gahl WA, Malicdan MCV.
    Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
    Hum Mutat    . 2019 Jan;40(1):42-47.
  1117. Yamada T, Sugiyama G, Higashimoto K, Nakashima A, Nakano H, Sumida T, Soejima H, Mori Y.
    Beckwith-Wiedemann syndrome with asymmetric mosaic of paternal disomy causing hemihyperplasia.
    Oral Surg Oral Med Oral Pathol Oral Radiol    . 2019 Mar;127(3):e84-e88.
  1118. Williams M, Burlina A, Rubert L, Polo G, Ruijter GJG, van den Born M, Rüfenacht V, Haskins N, van Zutven LJCM, Tuchman M, Saris JJ, Häberle J, Caldovic L.
    N-acetylglutamate synthase deficiency due to a recurrent sequence variant in the N-acetylglutamate synthase enhancer region.
    Sci Rep    . 2018 Oct 18;8(1):15436.
  1119. Gross AM, Ajay SS, Rajan V, Brown C, Bluske K, Burns NJ, Chawla A, Coffey AJ, Malhotra A, Scocchia A, Thorpe E, Dzidic N, Hovanes K, Sahoo T, Dolzhenko E, Lajoie B, Khouzam A, Chowdhury S, Belmont J, Roller E, Ivakhno S, Tanner S, McEachern J, Hambuch T, Eberle M, Hagelstrom RT, Bentley DR, Perry DL, Taft RJ.
    Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
    Genet Med    . 2019 May;21(5):1121-1130.
  1120. Garelli E, Quarello P, Giorgio E, Carando A, Menegatti E, Mancini C, Di Gregorio E, Crescenzio N, Palumbo O, Carella M, Dimartino P, Pippucci T, Dianzani I, Ramenghi U, Brusco A.
    Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.
    Br J Haematol    . 2019 Jun;185(5):994-998.
  1121. Jongmans MCJ, Diets IJ, Quarello P, Garelli E, Kuiper RP, Pfundt R.
    Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia.
    Haematologica    . 2018 Dec;103(12):e607-e609.
  1122. Venugopal P, Moore S, Lawrence DM, George AJ, Hannan RD, Bray SC, To LB, D'Andrea RJ, Feng J, Tirimacco A, Yeoman AL, Young CC, Fine M, Schreiber AW, Hahn CN, Barnett C, Saxon B, Scott HS.
    Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.
    Haematologica    . 2017 Dec;102(12):e506-e509.
  1123. Kim EN, Song DE, Yoon HM, Lee BH, Kim CJ.
    Adrenal cortical neoplasm with uncertain malignant potential arising in the heterotopic adrenal cortex in the liver of a patient with Beckwith-Wiedemann syndrome.
    J Pathol Transl Med    . 2019 Mar;53(2):129-135.
  1124. Wang H, Luo C, Liu Y, Li S, Jiang N, Zhang G, Xie J, Zhong M.
    UPD16 itself is not a cause of intrauterine growth restriction.
    Fetal Pediatr Pathol    . 2018 Dec;37(6):452-464.
  1125. Imaizumi T, Kumakura A, Yamamoto-Shimojima K, Ondo Y, Yamamoto T.
    Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder.
    Intractable Rare Dis Res    . 2018 Nov;7(4):245-250.
  1126. Mattioli F, Isidor B, Abdul-Rahman O, Gunter A, Huang L, Kumar R, Beaulieu C, Gecz J, Innes M, Mandel JL, Piton A.
    Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
    Hum Mol Genet    . 2019 Mar 15;28(6):952-960.
  1127. Cirello V, Giorgini V, Castronovo C, Marelli S, Mainini E, Sironi A, Recalcati MP, Pessina M, Giardino D, Larizza L, Persani L, Finelli P, Russo S, Fugazzola L.
    Segmental maternal UPD of chromosome 7q in a patient with pendred and Silver Russell syndromes-like features.
    Front Genet    . 2018 Nov 30;9:600.
  1128. Csillag B, Ilencikova D, Meissl M, Webersinke G, Laccone F, Narumi S, Haas O, Duba HC.
    Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation.
    Pediatr Blood Cancer    . 2019 Apr;66(4):e27589.
  1129. Cioppi F, Riera-Escamilla A, Manilall A, Guarducci E, Todisco T, Corona G, Colombo F, Bonomi M, Flanagan CA, Krausz C.
    Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.
    Andrology    . 2019 Jan;7(1):88-101.
  1130. Daum H, Meiner V, Hacohen N, Zvi N, Eilat A, Drai-Hasid R, Yagel S, Zenvirt S, Frumkin A.
    Single-nucleotide polymorphism-based chromosomal microarray analysis provides clues and insights into disease mechanisms.
    Ultrasound Obstet Gynecol    . 2019 Nov;54(5):655-660.
  1131. Kubicek D, Hornak M, Horak J, Navratil R, Tauwinklova G, Rubes J, Vesela K.
    Incidence and origin of meiotic whole and segmental chromosomal aneuploidies detected by karyomapping.
    Reprod Biomed Online    . 2019 Mar;38(3):330-339.
  1132. Morgan A, Lenarduzzi S, Cappellani S, Pecile V, Morgutti M, Orzan E, Ghiselli S, Ambrosetti U, Brumat M, Gajendrarao P, La Bianca M, Faletra F, Grosso E, Sirchia F, Sensi A, Graziano C, Seri M, Gasparini P, Girotto G.
    Genomic studies in a large cohort of hearing impaired Italian patients revealed several new alleles, a rare case of uniparental disomy (UPD) and the importance to search for copy number variations.
    Front Genet    . 2018 Dec 21;9:681.
  1133. Chan AP, Mulatinho M, Iskander P, Lee H, Martinez-Agosto JA, Yeh J.
    Maternal uniparental disomy 14 (UPD14) identified by clinical exome sequencing in an adolescent with diverticulosis.
    ACG Case Rep J    . 2019 Mar 29;6(3):1-3.
  1134. Chen CL, Lee CN, Lin MW, Hsu WW, Tai YY, Lin SY.
    Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report.
    J Formos Med Assoc    . 2019 Mar;118(3):739-742.
  1135. Tuna M, Liu W, Amos CI, Mills GB.
    Genome-wide profiling of acquired uniparental disomy reveals prognostic factors in head and neck squamous cell carcinoma.
    Neoplasia    . 2019 Nov;21(11):1102-1109.
  1136. Postema FAM, Bliek J, van Noesel CJM, van Zutven LJCM, Oosterwijk JC, Hopman SMJ, Merks JHM, Hennekam RC.
    Multiple tumors due to mosaic genome-wide paternal uniparental disomy.
    Pediatr Blood Cancer    . 2019 Jun;66(6):e27715.
  1137. Johnson JP, Waterson J, Schwanke C, Schoof J.
    Genome-wide androgenetic mosaicism.
    Clin Genet    . 2014 Mar;85(3):282-5.
  1138. Hopman SMJ, Hochstenbach PFR, Verrijn Stuart AA, Giltay JC, Van der Veken LT.
    A unique case of mosaic genome-wide uniparental isodisomy in a newborn with Beckwith-Wiedemann syndrome.
    Proceedings 4th Joint UK-Dutch Clinical Genetics Conference. Cardiff, UK, 2016.
  1139. Ge MM, Gao YY, Wu BB, Yan K, Qin Q, Wang H, Zhou W, Yang L.
    Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome.
    Mol Biol Rep    . 2019 Oct;46(5):4717-4724.
  1140. Jadhav B, Monajemi R, Gagalova KK, Ho D, Draisma HHM, van de Wiel MA, Franke L, Heijmans BT, van Meurs J, Jansen R; GoNL Consortium; BIOS Consortium, 't Hoen PAC, Sharp AJ, Kiełbasa SM.
    RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting.
    BMC Biol    . 2019 Jun 24;17(1):50. doi: 10.1186/s12915-019-0674-0.
  1141. Li H, Yang H, Lv N, Ma C, Li J, Shang Q.
    Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients.
    Mol Med Rep    . 2019 Aug;20(2):1178-1186.
  1142. Tortora A, La Sala D, Lonardo F, Vitale M.
    Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected.
    BMJ Case Rep    . 2019 May 10;12(5). pii: e228662.
  1143. Zhang X, Ding Z, He R, Qi J, Zhang Z, Cui B.
    Complete paternal uniparental disomy of chromosome 2 in an Asian female iIdentified by short tandem repeats and whole genome sequencing.
    Cytogenet Genome Res    . 2019;157(4):197-202.
  1144. Schulze KV, Szafranski P, Lesmana H, Hopkin RJ, Hamvas A, Wambach JA, Shinawi M, Zapata G, Carvalho CMB, Liu Q, Karolak JA, Lupski JR, Hanchard NA, Stankiewicz P.
    Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
    Clin Epigenetics    . 2019 Apr 8;11(1):60.
  1145. Buza N, McGregor SM, Barroilhet L, Zheng X, Hui P.
    Paternal uniparental isodisomy of tyrosine hydroxylase locus at chromosome 11p15.4: spectrum of phenotypical presentations simulating hydatidiform moles.
    Mod Pathol    . 2019 Jul;32(8):1180-1188.
  1146. Ponzi E, Alesi V, Lepri FR, Genovese S, Loddo S, Mucciolo M, Novelli A, Dionisi-Vici C, Maiorana A.
    Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.
    Mol Genet Genomic Med    . 2019 May;7(5):e634.
  1147. Colson C, Decamp M, Gruchy N, Coudray N, Ballandonne C, Bracquemart C, Molin A, Mittre H, Takatani R, Jüppner H, Kottler ML, Richard N.
    High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B.
    Bone    . 2019 Jun;123:145-152.
  1148. Spier I, Engels H, Stutte S, Reutter H, Bartels E, Matos Meder S, Begemann M, Mangold E, Eggermann T.
    Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.
    Am J Med Genet A    . 2019 Nov;179(11):2252-2256.
  1149. Li D, Wang Y, Zhao N, Chang L, Liu P, Tian C, Qiao J.
    A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result.
    BMC Med Genet    . 2019 Nov 7;20(1):172.
  1150. Urzua A, Burattini S, Pinochet C, Benavides F, Repetto GM.
    Somatic mosaicism for paternal uniparental disomy of 11p15.5 region in adrenal and liver tissues in a newborn with atypical Beckwith-Wiedemann syndrome.
    J Pediatr Genet    . 2019 Dec;8(4):226-230.
  1151. Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, Bjerin O, Gustavsson P, Hammarsjö A, Georgii-Hemming P, Iwarsson E, Johansson-Soller M, Lagerstedt-Robinson K, Lieden A, Magnusson M, Martin M, Malmgren H, Nordenskjöld M, Norling A, Sahlin E, Stranneheim H, Tham E, Wincent J, Ygberg S, Wedell A, Wirta V, Nordgren A, Lundin J, Nilsson D.
    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
    Genome Med    . 2019 Nov 7;11(1):68.
  1152. Giabicani É, Boulé M, Aubertin G, Galliani E, Brioude F, Dubern B, Netchine I.
    Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome.
    Sleep Med    . 2019 Dec;64:23-29.
  1153. Lane C, Robinson L, Freeth M.
    Autistic traits and cognitive abilities associated with two molecular causes of Silver-Russell syndrome.
    J Abnorm Psychol    . 2020 Apr;129(3):312-319.
  1154. Houghton JA, Banerjee I, Shaikh G, Jabbar S, Laver TW, Cheesman E, Chinnoy A, Yau D, Salomon-Estebanez M, Dunne MJ, Flanagan SE.
    Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism.
    J Pathol Clin Res    . 2020 Jan;6(1):12-16.
  1155. Liu J, Huang L, He Z, Lin S, Wang Y, Luo Y.
    Clinical value of genetic analysis in prenatal diagnosis of short femur.
    Mol Genet Genomic Med    . 2019 Nov;7(11):e978.
  1156. Kang B, Wu D, Wang X, Wang H, He M, Liao S.
    [Influence of uniparental disomy on the conclusion of paternity testing].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi    . 2019 Sep 10;36(9):938-942.
  1157. Kang E, Kim T, Oh A, Yum MS, Keum C, Yoo HW, Lee BH.
    Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.
    J Hum Genet    . 2019 Nov;64(11):1137-1140.
  1158. Higgins R, Jensen AN, Wachstein J, Bruckner-Tuderman L, Spiegel R, Traber H, Achermann J, Schaller M, Fehrenbacher B, Röcken M, Ignatova D, Chang YT, Fischer T, Schwieger-Briel AE, French LE, Hoetzenecker W, Hornung R, Malzacher A, Cozzio A, Navarini A, Has C, Guenova E.
    Uniparental disomy of chromosome 2 unmasks new ITGA6 recessive mutation and results in a lethal junctional epidermolysis bullosa in a newborn.
    Acta Derm Venereol. 2020 Jan 30;100(1):adv00041.
  1159. Xiao B, Wang L, Liu H, Fan Y, Xu Y, Sun Y, Qiu W.
    Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.
    Mol Genet Genomic Med    . 2019 Oct;7(10):e00945.
  1160. Vásquez Sotomayor F, Abarca-Barriga HH.
    Homozygous deletion of the CFTR gene caused by interstitial maternal isodisomy in a Peruvian child with cystic fibrosis.
    J Pediatr Genet    . 2019 Sep;8(3):147-152.
  1161. Smigiel R, Rozensztrauch A, Walczak A, Rydzanicz M, Stawinski P, Berghausen-Mazur M, Kostrzewa G, Sasiadek M, Ploski R.
    Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2.
    Clin Dysmorphol    . 2019 Oct;28(4):211-214.
  1162. Chaves TF, Oliveira LF, Ocampos M, Barbato IT, de Luca GR, Barbato Filho JH, de Camargo Pinto LL, Bernardi P, Maris AF.
    Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil.
    BMC Med Genomics    . 2019 Mar 12;12(1):50.
  1163. Li LH, Ho SF, Chen CH, Wei CY, Wong WC, Li LY, Hung SI, Chung WH, Pan WH, Lee MT, Tsai FJ, Chang CF, Wu JY, Chen YT.
    Long contiguous stretches of homozygosity in the human genome.
    Hum Mutat    . 2006 Nov;27(11):1115-21.
  1164. Phillips J, Courel S, Rebelo AP, Bis-Brewer DM, Bardakjian T, Dankwa L, Hamedani AG, Züchner S, Scherer SS.
    POLG mutations presenting as Charcot-Marie-Tooth disease.
    J Peripher Nerv Syst    . 2019 Jun;24(2):213-218.
  1165. Christesen HT, Christensen LG, Löfgren ÅM, Brøndum-Nielsen K, Svensson J, Brusgaard K, Samuelsson S, Elfving M, Jonson T, Grønskov K, Rasmussen L, Backman T, Hansen LK, Larsen AR, Petersen H, Detlefsen S.
    Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.
    Eur J Med Genet    . 2019 Feb 21:103632.
  1166. Labrijn-Marks I, Somers-Bolman GM, In 't Groen SLM, Hoogeveen-Westerveld M, Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H, Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ.
    Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
    Eur J Hum Genet    . 2019 Jun;27(6):919-927.
  1167. Liu C, Zhang X, Wang J, Zhang Y, Wang A, Lu J, Huang Y, Liu S, Wu J, Du L, Yang J, Ding H, Liu L, Zhao X, Yin A.
    Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China.
    Mol Cytogenet    . 2019 Feb 18;12:7.
  1168. Shen MC, Chen M, Chang SP, Lin PT, Hsieh HN, Lin KH.
    Segmental uniparental disomy as a rare cause of congenital severe factor XIII deficiency in a girl with only one heterozygous carrier parent.
    Pediatr Hematol Oncol    . 2018 Oct - Nov;35(7-8):442-446.
  1169. Moradkhani K, Cuisset L, Boisseau P, Pichon O, Lebrun M, Hamdi-Rozé H, Maurin ML, Gruchy N, Manca-Pellissier MC, Malzac P, Bilan F, Audrezet MP, Saugier-Veber P, Fauret-Amsellem AL, Missirian C, Kuentz P, Egea G, Guichet A, Creveaux I, Janel C, Harzallah I, Touraine R, Goumy C, Joyé N, Puechberty J, Haquet E, Chantot-Bastaraud S, Schmitt S, Gosset P, Duban-Bedu B, Delobel B, Vago P, Vialard F, Gomes DM, Siffroi JP, Bonnefont JP, Dupont JM, Jonveaux P, Doco-Fenzy M, Sanlaville D, Le Caignec C.
    Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
    Prenat Diagn    . 2019 Oct;39(11):986-992.
  1170. Wang JC, Radcliff J, Coe SJ, Mahon LW.
    Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies.
    Prenat Diagn    . 2019 Feb;39(3):137-156.
  1171. Maisenbacher MK, Merrion K, Kutteh WH.
    Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages.
    Fertil Steril. 2019 Oct;112(4):700-706.
  1172. Lalou I, Gkrozou F, Meridis E, Tsonis O, Paschopoulos M, Syrrou M.
    Molecular investigation of uniparental disomy (UPD) in spontaneous abortions.
    Eur J Obstet Gynecol Reprod Biol    . 2019 May;236:116-120.
  1173. Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W.
    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
    Genome Med    . 2019 May 17;11(1):30.
  1174. Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O.
    Small supernumerary marker chromosomes: A legacy of trisomy rescue?
    Hum Mutat    . 2019 Feb;40(2):193-200.
  1175. Wen J, Comerford K, Xu Z, Wu W, Amato K, Grommisch B, DiAdamo A, Xu F, Chai H, Li P.
    Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series.
    Mol Cytogenet    . 2019 Mar 6;12:12.
  1176. Yoshida T, Miyado M, Mikami M, Suzuki E, Kinjo K, Matsubara K, Ogata T, Akutsu H, Kagami M, Fukami M.
    Aneuploid rescue precedes X-chromosome inactivation and increases the incidence of its skewness by reducing the size of the embryonic progenitor cell pool.
    Hum Reprod    . 2019 Sep 29;34(9):1762-1769.
  1177. Poyatos D, Guitart M, Gabau E, Brun C, Mila M, Vaquerizo J, Coll MD.
    Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15.
    J Med Genet. 2002 Feb;39(2):E4.
  1178. Bauch K, Witkowski R, Ullrich E, Dempe A, Lindner J.
    The XX male -- report on a child and an adult.
    Endokrinologie    . 1980 Jul;76(1):63-7.
  1179. Berry AC, Whittingham AJ, Neville BG.
    Chromosome 15 in floppy infants.
    Arch Dis Child. 1981 Nov;56(11):882-5.
  1180. Bettio D, Giardino D, Rizzi N, Riva P, Volpi L, Barantani E, Tagliaferri A, Larizza L.
    Isochromosome 15q of maternal origin in a Prader-Willi patient with pituitary adenoma.
    Acta Genet Med Gemellol (Roma)    . 1996;45(1-2):213-6.
  1181. Emberger JM, Rodiere M, Astruc J, Brunel D.
    [The Prader-Willi syndrome and 15-15 translocation].
    Ann Genet    . 1977 Dec;20(4):297-300. French.
  1182. Fleischnick E, Cone TE Jr, Greer G, Wood JW.
    Prader-Willi syndrome with 15/15 translocation.
    Am J Hum Genet 1979; 31:94A.
  1183. Fraccaro M, Zuffardi O, Buhler EM, Jurik LP.
    15/15 translocation in Prader-Willi syndrome.
    J Med Genet    . 1977 Aug;14(4):275-6.
  1184. Groupe de Cytogénéticiens Français.
    Robertsonian translocations and abnormal phenotypes.
    Ann Genet    . 1989;32(1):5-9.
  1185. Hawkey CJ, Smithies A.
    The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.
    J Med Genet    . 1976 Apr;13(2):152-7.
  1186. Ledbetter DH, Mascarello JT, Riccardi VM, Harper VD, Airhart SD, Strobel RJ.
    Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.
    Am J Hum Genet    . 1982 Mar;34(2):278-85.
  1187. Tylki A, Lech H, Gurkau M, Parcheta B.
    [Prader-Willi syndrome and translocation 15/15].
    Ann Genet    . 1982;25(3):183-4. French.
  1188. Blom E, Saris JJ, Van Zutven LJCM, Hoefsloot EH.
    A case of maternal UPD20 detected by routine SNP array diagnostics.
    Abstracts of the 12th European Cytogenomics Conference 2019; 1.P48
  1189. Heine C, Arelin M, Beblo S, Abou Jamra R.
    Maternal Uniparental Isodisomy causes Ribose-5-phosphate Isomerase Deficiency in a child with developmental delay, epilepsy and leukoencephalopathy.
    Abstracts of the annual meeting Weimar 2019, German Society of Human Genetics. P-ClinG-075.
  1190. Smith KK, Boyle TA, Morgan DL, Parkin CA.
    Uniparental disomy: UK collaborative study.
    Am J Hum Genet 2001, 69 (Suppl):911.
  1191. Zheng XZ, Qin XY, Chen SW, Wang P, Zhan Y, Zhong PP, Buza N, Jin YL, Wu BQ, Hui P.
    Heterozygous/dispermic complete mole confers a significantly higher risk for post-molar gestational trophoblastic disease.
    Mod Pathol. 2020 Oct;33(10):1979-1988.
  1192. Lin YH, Jong YJ, Huang PC, Tsai C.
    Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory.
    Acta Obstet Gynecol Scand. 2020 Jun;99(6):775-782.
  1193. Del Gaudio D, Shinawi M, Astbury C, Tayeh MK, Deak KL, Raca G; ACMG Laboratory Quality Assurance Committee.
    Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).
    Genet Med. 2020 Jul;22(7):1133-1141.
  1194. Wang X, Pang H, Shah BA, Gu H, Zhang L, Wang H.
    A male case of Kagami-Ogata syndrome caused by paternal unipaternal disomy 14 as a result of a Robertsonian translocation.
    Front Pediatr. 2020 Mar 10;8:88.
  1195. Bhoj EJ, Rajabi F, Baker SW, Santani A, Tan WH.
    Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci.
    Eur J Med Genet. 2020 Jun;63(6):103903.
  1196. Zhang P, Wu B, Lu Y, Ni Q, Liu R, Zhou W, Wang H.
    First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant.
    Mol Genet Genomic Med. 2020 Mar;8(3):e1144.
  1197. Yang L, Zhou Q, Ma B, Mao S, Dai Y, Zhu M, Zou C.
    Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients.
    Orphanet J Rare Dis. 2020 Jan 21;15(1):24.
  1198. Strenilkov K, Debladis J, Salles J, Valette M, Mantoulan C, Thuilleaux D, Laurier V, Molinas C, Barone P, Tauber M.
    A study of voice and non-voice processing in Prader-Willi syndrome.
    Orphanet J Rare Dis. 2020 Jan 20;15(1):22.
  1199. Igreja da Silva JI, Ribeiro B, Cadilhe A, Nogueira-Silva C.
    Paternal uniparental disomy for chromosome 14: prenatal management.
    BMJ Case Rep. 2019 Dec 30;12(12):e231705.
  1200. Xin Y, Fang H, Yuan P, Jiang Y.
    [Genetic analysis of an adult with mosaicism of uniparental disomy 11p].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1219-1221.
  1201. Chen M, Hao H, Xiong H, Cai Y, Ma F, Shi C, Xiao X, Li S.
    Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia.
    Mol Genet Genomic Med. 2020 Jan;8(1):e1063.
  1202. Sato H, Kawasaki N, Kawasaki M, Abiko Y, Meguro T, Takahashi N, Izumino H, Kanno M, Numakura C, Sasaki A, Imamura T, Taki T, Mitsui T.
    Three consecutive cases of familial hemophagocytic lymphohistiocytosis, including a case due to maternal uniparental disomy.
    J Pediatr Hematol Oncol. 2020 Nov;42(8):e819-e821.
  1203. Hu T, Zhang Z, Wang J, Li Q, Zhu H, Lai Y, Wang H, Liu S.
    Chromosomal aberrations in pediatric patients with developmental delay/intellectual disability: A single-center clinical investigation.
    Biomed Res Int. 2019 Nov 6;2019:9352581.
  1204. Park GY, Jang DH, Lee DW, Jang JH, Joo J.
    Hereditary sensory and autonomic neuropathy 2B caused by a novel RETREG1 mutation (c.765dupT) and paternal uniparental isodisomy of chromosome 5.
    Front Genet. 2019 Oct 31;10:1085.
  1205. Wang R, Xiao Y, Li D, Hu H, Li X, Ge T, Yu R, Wang Y, Zhang T.
    Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.
    Ital J Pediatr. 2020 Apr 29;46(1):55.
  1206. Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM.
    Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
    Genet Med. 2020 Jul;22(7):1235-1246.
  1207. Nishimura N, Murakami H, Hayashi T, Sato H, Kurosawa K.
    Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9.
    Congenit Anom (Kyoto). 2020 Sep;60(5):153-155.
  1208. Pan YW, Chang CW, Jong YJ, Chou YY, Kuo PL.
    Segmental isodisomy in Prader-Willi syndrome patients: The experience of a single diagnostic center.
    Pediatr Neonatol. 2020 Jun;61(3):343-345.
  1209. Srivastava S, D'Amore A, Cohen JS, Swanson LC, Ricca I, Pini A, Fatemi A, Ebrahimi-Fakhari D, Santorelli FM.
    Expansion of the genetic landscape of ERLIN2-related disorders.
    Ann Clin Transl Neurol. 2020 Apr;7(4):573-578.
  1210. Kim JK, Jeong JE, Choi JM, Kim GH, Yoo HW.
    A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome.
    J Hum Genet. 2020 Jun;65(6):551-555.
  1211. Liu QL, Wu WW, Zhao H, Nan HL, Lu DJ.
    Maternal uniparental disomy of chromosome 4 indicated by allele copy number of short tandem repeats.
    Forensic Sci Int Genet. 2020 May;46:102273.
  1212. Wang Y, Chen X, Yang Q, Tang W, Jia Y, Zhou L, An Y, Zhang Z, Tang X, Zhao X.
    1021K homozygous mutation in PIK3CD leads to activated PI3K-delta syndrome 1
    J Clin Immunol. 2020 Feb;40(2):378-387.
  1213. Yauy K, de Leeuw N, Yntema HG, Pfundt R, Gilissen C.
    Accurate detection of clinically relevant uniparental disomy from exome sequencing data
    Genet Med. 2020 Apr;22(4):803-808.
  1214. Patti G, De Mori L, Tortora D, Severino M, Calevo M, Russo S, Napoli F, Confalonieri L, Schiavone M, Thiabat HF, Casalini E, Morana G, Rossi A, Ramenghi LA, Maghnie M, Di Iorgi N.
    Cognitive profiles and brain volume are affected in patients with Silver-Russell syndrome.
    J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgz151.
  1215. Brodehl A, Weiss J, Debus JD, Stanasiuk C, Klauke B, Deutsch MA, Fox H, Bax J, Ebbinghaus H, Gärtner A, Tiesmeier J, Laser T, Peterschröder A, Gerull B, Gummert J, Paluszkiewicz L, Milting H.
    A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
    J Mol Cell Cardiol. 2020 Apr;141:17-29.
  1216. In 't Groen SLM, de Faria DOS, Iuliano A, van den Hout JMP, Douben H, Dijkhuizen T, Cassiman D, Witters P, Barba Romero MÁ, de Klein A, Somers-Bolman GM, Saris JJ, Hoefsloot LH, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP.
    Novel GAA variants and mosaicism in Pompe disease identified by extended analyses of patients with an incomplete DNA diagnosis.
    Mol Ther Methods Clin Dev. 2020 Jan 13;17:337-348. 
  1217. Prasov L, Ullah E, Turriff AE, Warner BM, Conley J, Mark PR, Hufnagel RB, Huryn LA.
    Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
    Am J Med Genet A. 2020 Mar;182(3):493-497.
  1218. Murakami H, Uehara T, Tsurusaki Y, Enomoto Y, Kuroda Y, Aida N, Kosaki K, Kurosawa K.
    Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
    Brain Dev. 2020 Mar;42(3):289-292.
  1219. Daniels EG, Alders M, Lezzerini M, McDonald A, Peters M, Kuijpers TW, Lakeman P, Houtkooper RH, MacInnes AW.
    A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder.
    Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004457.
  1220. Deng H, Zhang Y, Yao Y, Xiao H, Su B, Xu K, Guan N, Ding J, Wang F.
    Interpretation of autosomal recessive kidney diseases with "presumed homozygous" pathogenic variants should consider technical pitfalls.
    Front Pediatr. 2020 Apr 17;8:165.
  1221. Liu J, He Z, Lin S, Wang Y, Huang L, Huang X, Luo Y.
    Absence of heterozygosity detected by single-nucleotide polymorphism array in prenatal diagnosis.
    Ultrasound Obstet Gynecol 2021 Feb;57(2):314-323
  1222. Su H, Sun T, Chen M, Liu J, Wang X, Chen Y, Ren W, Zhang G, Yan J, Yun K.
    Multiple methods used for type detection of uniparental disomy in paternity testing.
    Int J Legal Med. 2020 May;134(3):885-893.
  1223. Novell-Alsina R, Esteba-Castillo S, Caixàs A, Gabau E, Giménez-Palop O, Pujol J, Deus J, Torrents-Rodas D.
    Compulsions in Prader-Willi syndrome: occurrence and severity as a function of genetic subtype.
    Actas Esp Psiquiatr. 2019 May;47(3):79-87.
  1224. Dos Santos A, Campagnari F, Krepischi ACV, Ribeiro Câmara ML, de Arruda Brasil RCE, Vieira L, Vianna-Morgante AM, Otto PA, Pearson PL, Rosenberg C.
    Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion.
    Chromosome Res. 2018 Sep;26(3):191-198.
  1225. Matsubara K, Yanagida K, Nagai T, Kagami M, Fukami M.
    De novo small supernumerary marker chromosomes arising from partial trisomy rescue.
    Front Genet. 2020 Feb 27;11:132.
  1226. Zhou L, Zheng Z, Wu L, Xu C, Wu H, Xu X, Tang S.
    Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array.
    Mol Cytogenet 2020, 13 (1):19.
  1227. Ondičová M, Oakey RJ, Walsh CP.
    Is imprinting the result of "friendly fire" by the host defense system?
    PLoS Genet. 2020;16(4):e1008599.
  1228. Eggermann T, Mackay DJG, Tümer Z.
    Uniparental disomy and imprinting disorders.
    OBM Genetics 2018, 2(3):031.
  1229. Liehr T.
    Cytogenetic contribution to uniparental disomy (UPD).
    Mol Cytogenet. 2010;3:8.
  1230. Sezer A, Kayhan G, Koç A, Ergün MA, Perçin FE.
    Warburg micro syndrome 1 due to segmental paternal uniparental isodisomy of chromosome 2 detected by whole-exome sequencing and homozygosity mapping.
    Cytogenet Genome Res. 2020;160(6):309-315.
  1231. Syding LA, Nickl P, Kasparek P, Sedlacek R.
    CRISPR/Cas9 epigenome editing potential for rare imprinting diseases: A review.
    Cells. 2020;9(4):993.
  1232. Fu J, Shen S, Cheng J, Lv H, Fu J.
    A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family
    J Cell Mol Med. 2020;24(14):7743-7750.
  1233. Cöktü S, Spix C, Kaiser M, Beygo J, Kleinle S, Bachmann N, Kohlschmidt N, Prawitt D, Beckmann A, Klaes R, Nevinny-Stickel-Hinzpeter C, Döhnert S, Kraus C, Kadgien G, Vater I, Biskup S, Kutsche M, Kohlhase J, Eggermann T, Zenker M, Kratz CP.
    Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.
    Br J Cancer. 2020 Aug;123(4):619-623.
  1234. Gabra MG, Gonzalez MG, Bullock HN, Hill MG.
    Cell-free DNA as an addition to ultrasound for screening of a complete hydatidiform mole and coexisting normal fetus pregnancy: A case report.
    AJP Rep. 2020;10(2):e176-e178.
  1235. Zhang C, Hao S, Zhang Q, Liu F, Zhou B, Xuan F, Xing W, Chen X, Wang Y, Ma P, Cao Z, Ma X.
    Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome.
    J Clin Lab Anal. 2020 Jul 14:e23407.
  1236. Tung JY, Lai SHY, Au SLK, Yeung KS, Kan ASY, Loong F, DeLeón DD, Kalish JM, Ganguly A, Chung BHY, Chan KYK.
    Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.
    Int J Pediatr Endocrinol. 2020;2020:13.
  1237. Vaes L, Tiller GE, Pérez B, Boyer SW, Berry SA, Sarafoglou K, Morava E.
    PMM2-CDG caused by uniparental disomy: Case report and literature review.
    JIMD Rep. 2020 Apr 28;54(1):16-21.
  1238. Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez Dueñas B, Medrano C, García-Alix A, Artuch R, Briones P, Pérez B.
    A population-based study on congenital disorders of protein N- and combined with O-glycosylation experience in clinical and genetic diagnosis.
    J Pediatr. 2017 Apr;183:170-177.e1.
  1239. Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C.
    Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
    Clin Genet. 2019 May;95(5):615-626.
  1240. Tiller GE, M R, Still A, Wood TC.
    Congenital disorder of glycosylation type Ia due to paternal uniparental isodisomy 16.
    Presented at the 58th Annual Meeting of the American Society of Human Genetics, Philadelphia, PA, November 11‐15, 2008.
  1241. Krate J, Ramsey KM, Rangasamy S, Narayanan V.
    Congenital myasthenia syndrome (CMS): uniparental disomy of chromosome 2 and homozygous mutation of GFPT1.
    J Investig Med    . 2015;63(1):146.
  1242. Laukoter S, Pauler FM, Beattie R, Amberg N, Hansen AH, Streicher C, Penz T, Bock C, Hippenmeyer S.
    Cell-type specificity of genomic imprinting in cerebral cortex.
    Neuron. 2020 Sep 23;107(6):1160-1179.e9.
  1243. Shchagina O, Bessonova L, Bychkov I, Beskorovainaya T, Poliakov A.
    A family case of congenital myasthenic syndrome-22 induced by different combinations of molecular causes in siblings.
    Genes (Basel). 2020;11(7):821.
  1244. Szelinger S, Krate J, Ramsey K, Strom SP, Shieh PB, Lee H, Belnap N, Balak C, Siniard AL, Russell M, Richholt R, Both M, Claasen AM, Schrauwen I, Nelson SF, Huentelman MJ, Craig DW, Yang SP, Moore SA, Sivakumar K, Narayanan V, Rangasamy S; UCLA Clinical Genomics Center.
    Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
    Neurol Genet. 2020 Jun 30;6(4):e468.
  1245. Huang W, Li S, Luo H, Wen X, Lin C, Chen S, Zhao L, Xiao G.
    [Application of various genetic techniques for the diagnosis of Prader-Willi syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Aug 10;37(8):875-878. Chinese.
  1246. Tahara U, Ono N, Aoki S, Kawai T, Nakabayashi K, Hata K, Amagai M, Kubo A.
    Case of autosomal recessive woolly hair/hypotrichosis with a homozygous c.736T>A mutation of LIPH caused by maternal uniparental disomy of chromosome 3.
    J Dermatol. 2020 Nov;47(11):e393-e394.
  1247. Keute M, Miller MT, Krishnan ML, Sadhwani A, Chamberlain S, Thibert RL, Tan WH, Bird LM, Hipp JF.
    Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment.
    Mol Psychiatry. 2021 Jul;26(7):3625-3633.
  1248. Andolfo I, Martone S, Ribersani M, Bianchi S, Manna F, Genesio R, Gambale A, Pignataro P, Testi AM, Iolascon A, Russo R.
    Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus.
    Haematologica. 2020 Dec 1;105(12):2883-2886.
  1249. Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M, Hurtig JE, Enyenihi L, Sterrett MC, Leung SW, Schneidman-Duhovny D, Estrada-Veras J, Duncan JL, Haaxma CA, Kamsteeg EJ, Xia V, Beleford D, Si Y, Douglas G, Treidene HE, van Hoof A, Fasken MB, Corbett AH.
    Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
    Hum Mol Genet. 2020 Aug 3;29(13):2218-2239.
  1250. Wang R, Xiao Y, Li D, Hu H, Li X, Ge T, Yu R, Wang Y, Zhang T.
    Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.
    Ital J Pediatr. 2020 Apr 29;46(1):55.
  1251. Xia JK, Bai ZX, Zhao XC, Meng JJ, Chen C, Kong XD.
    Mitochondrial DNA depletion syndrome in a newborn with Jaundice Caused by DGUOK mutation and complete uniparental disomy of chromosome 2.
    Pediatr Neonatol. 2020;S1875-9572(20)30063-2.
  1252. Sund KL, Khattar D, Boomer T, Caldwell S, Dyer L, Hopkin RJ, Smolarek TA.
    Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non-invasive prenatal screen positive for monosomy X.
    Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):294-301.
  1253. Takenouchi T, Yamada T, Kashiwagi Y, Yamaguchi Y, Uehara T, Kosaki K.
    Hypercoagulopathy associated with uniparental disomy of chromosome 2.
    J Pediatr Hematol Oncol. 2020;42(5):370-371.
  1254. Giri D, Bockenhauer D, Deshpande C, Achermann JC, Taylor NF, Rumsby G, Morgan H, Senniappan S, Ajzensztejn M.
    Co-existence of congenital adrenal hyperplasia and Bartter syndrome due to maternal uniparental isodisomy of HSD3B2 and CLCNKB mutations.
    Horm Res Paediatr. 2020 Jun 5;93(1):66-71.
  1255. Wang L, Xu J, Niu W, Hu L, Zhang Y, Sun Y.
    Genetic testing on products of conception and its relationship with body mass index.
    J Assist Reprod Genet. 2020 Aug;37(8):1853-1860.
  1256. Gomez DA, Bird LM, Fleischer N, Abdul-Rahman OA.
    Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning:
    Am J Med Genet A. 2020 Sep;182(9):2021-2026.
  1257. Mehta N, Johnston JM, Hein M, Kipp BR, Coon L, Savedra ME, Hoyer JD, He R, Rangan A, Shi M, Oliveira JL.
    Further characterization of Hb bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and first report of the homozygous state.
    Hemoglobin. 2020 May;44(3):174-178.
  1258. Eggermann T.
    Prenatal detection of uniparental disomies (UPD): Intended and incidental finding in the era of next generation genomics.
    Genes (Basel). 2020 Dec 3;11(12):E1454.
  1259. Chen CP, Chern SR, Wang LK, Wu PS, Wu FT, Chen YY, Town DD, Pan CW, Wang W.
    Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy.
    Taiwan J Obstet Gynecol. 2020 Nov;59(6):938-940.
  1260. Kloth K, Vater I, Lindschau R, Caliebe A, Muschol NM = wrong in Pubmed as Katja K, Inga V, Ramona L, Almuth C, Maria MN.
    Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2.
    Mol Genet Metab Rep. 2020 Oct 22;25:100660.
  1261. Montes AS, Osann KE, Gold JA, Tamura RN, Driscoll DJ, Butler MG, Kimonis VE.
    Genetic subtype-phenotype analysis of growth hormone treatment on psychiatric behavior in Prader-Willi syndrome.
    Genes (Basel). 2020 Oct 23;11(11):1250.
  1262. González-Quintana A, Trujillo-Tiebas MJ, Fernández-Perrone AL, Blázquez A, Lucia A, Morán M, Ugalde C, Arenas J, Ayuso C, Martín MA.
    Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation.
    Mol Genet Metab. 2020 Nov;131(3):341-348.
  1263. Chen CP, Ko TM, Chen YY, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Chen WL, Pan CW, Wang W.
    Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome.
    Taiwan J Obstet Gynecol. 2020 Sep;59(5):754-757.
  1264. Shubina J, Barkov IY, Stupko OK, Kuznetsova MV, Goltsov AY, Kochetkova TO, Trofimov DY, Sukhikh GT.
    Prenatal diagnosis of Prader-Willi syndrome due to uniparental disomy with NIPS: Case report and literature review.
    Mol Genet Genomic Med. 2020 Oct;8(10):e1448.
  1265. Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier ML, Santana L, Honjo RS, Kim CA, de Zegher F, Idkowiak J, Gilligan LC, Arlt W, Funari MFA, Jorge AAL, Mendonca BB, Netchine I, Brito VN, Latronico AC.
    Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
    Hum Reprod. 2021 Jan 25;36(2):506-518.
  1266. Fuke T, Nakamura A, Inoue T, Kawashima S, Hara KI, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M.
    Role of imprinting disorders in short children born SGA and Silver-Russell syndrome spectrum.
    J Clin Endocrinol Metab. 2021 Mar 8;106(3):802-813.
  1267. Gou L, Fang Y, Wang N, Zhang M, Liu T, Wang Y, Hu S, Zhang Y, Wu Q, Wang Y, Suo F, Gu M.
    Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center.
    J Int Med Res. 2020 Nov;48(11):300060520966877.
  1268. Lu A, Luo F, Sun C, Zhang X, Wang L, Lu W.
    Sleep-disordered breathing and genetic findings in children with Prader-Willi syndrome in China.
    Ann Transl Med. 2020 Aug;8(16):989.
  1269. Hayakawa M, Tahara U, Ono N, Aoki S, Kawai T, Nakabayashi K, Hata K, Amagai M, Kubo A.
    Nagashima-type palmoplantar keratosis caused by biallelic maternal mutation of SERPINB7 with segmental uniparental disomy of chromosome 18q.
    J Dermatol. 2020 Dec;47(12):e453-e454.
  1270. Eggermann T, Brück J, Knopp C, Fekete G, Kratz C, Tasic V, Kurth I, Elbracht M, Eggermann K, Begemann M.
    Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.
    J Mol Med (Berl). 2020 Oct;98(10):1447-1455.
  1271. Eggermann T, Heilsberg AK, Bens S, Siebert R, Beygo J, Buiting K, Begemann M, Soellner L.
    Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.
    J Mol Med (Berl). 2014 Jul;92(7):769-77.
  1272. Lazana I, Mohamedali A, Smith F, de Lavallade H, McLornan D, Raj K.
    Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosis.
    Br J Haematol. 2021 Jan;192(1):220-223. 
  1273. Cavalheiro CP, Avila E, Gastaldo AZ, Graebin P, Motta CHA, Rodenbusch R, Alho CS.
    Uniparental disomy of chromosome 21: A statistical approach and application in paternity tests.
    Forensic Sci Int Genet. 2020 Nov;49:102368.
  1274. Muthusamy K, Macke EL, Klee EW, Tebben PJ, Hand JL, Hasadsri L, Marcou CA, Schimmenti LA.
    Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
    Am J Med Genet A. 2020 Oct;182(10):2442-2449.
  1275. Mounts EL, Besser AG.
    Lack of evidence to support recommendation for prenatal uniparental disomy (UPD) analysis following mosaic embryo transfer.
    Genet Med. 2021 Jan;23(1):230-231.
  1276. Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, Rodriguez FH, Noguera LP, Booth CA, Jarur-Chamy V, Shams M, Iascone M, Vukic M, Gasperini S, Quadri M, Barroeta Seijas AB, Rivers E, Mauri M, Badolato R, Cazzaniga G, Bugarin C, Gaipa G, Kroes W, Moratto D, van Ostaijen-Ten Dam MM, Baas F, van der Maarel S, Piazza R, Coban-Akdemir Z, Lupski JR, Yuan B, Chinn IK, Daxinger L, Biondi A.
    Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency.
    Blood. 2021 Jan 28;137(4):493-499.
  1277. Lei YL, Zhen L, Xu LL, Yang YD, Li DZ.
    Foetal phenotype of ALG1-CDG caused by paternal uniparental disomy 16.
    J Obstet Gynaecol. 2021 Jul;41(5):828-830.
  1278. Benn P.
    Uniparental disomy: Origin, frequency, and clinical significance.
    Prenat Diagn. 2021 Apr;41(5):564-572
  1279. Prawitt D, Haaf T.
    Basics and disturbances of genomic imprinting.
    MedGen 2020: 32(4):297-304.
  1280. Beygo J, Kanber D, Eggermann T, Begemann M.
    Molecular testing for imprinting disorders.
    MedGen 2020: 32(4):305–319.
  1281. Elbracht M, Binder G, Hiort O, Kiewert C, Kratz C, Eggermann T.
    Clinical spectrum and management of imprinting disorders
    MedGen 2020: 32(4):321–334.
  1282. Hjortshøj TD, Sørensen AR, Yusibova M, Hansen BM, Dunø M, Balslev-Harder M, Grønskov K, van Hagen JM, Polstra AM, Eggermann T, Finken MJJ, Tümer Z.
    upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts.
    Clin Genet. 2020 Jun;97(6):902-907.
  1283. Sajan SA, Powis Z, Helbig KL, Nagakura H, Immken L, Tang S, Alcaraz WA.
    Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
    Clin Case Rep. 2018 May 8;6(7):1208-1213.
  1284. Garza-Mayén G, Ulloa-Avilés V, Villarroel CE, Navarrete-Meneses P, Lieberman-Hernández E, Abreu-González M, Márquez-Quiroz L, Azotla-Vilchis C, Cifuentes-Goches JC, Del Castillo-Ruiz V, Durán-McKinster C, Pérez-Vera P, Salas-Labadía C.
    UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.
    Eur J Med Genet. 2021 Mar 18;64(5):104199.
  1285. Boluda-Navarro M, Ibáñez M, Liquori A, Franco-Jarava C, Martínez-Gallo M, Rodríguez-Vega H, Teresa J, Carreras C, Such E, Zúñiga Á, Colobran R, Cervera JV.
    Case report: Partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chédiak-Higashi syndrome.
    Front Immunol. 2021 Mar 31;12:625591.
  1286. Pooh RK, Machida M, Imoto I, Arai EN, Ohashi H, Takeda M, Shimokawa O, Fukuta K, Shiozaki A, Saito S, Chiyo H.
    Fetal megalencephaly with cortical dysplasia at 18 gestational weeks related to paternal UPD mosaicism with PTEN mutation.
    Genes (Basel). 2021 Mar 2;12(3):358.
  1287. Dong Z, Chau MHK, Zhang Y, Yang Z, Shi M, Wah YM, Kwok YK, Leung TY, Morton CC, Choy KW.
    Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.
    Genet Med.     2021 Jul;23(7):1225-123.
  1288. Horga A, Manole A, Mitchell AL, Bugiardini E, Hargreaves IP, Mowafi W, Bettencourt C, Blakely EL, He L, Polke JM, Woodward CE, Dalla Rosa I, Shah S, Pittman AM, Quinlivan R, Reilly MM, Taylor RW, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A, Houlden H.
    Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
    Mol Biol Rep. 2    021 Mar;48(3):2093-2104.
  1289. Zhou L, Zheng Z, Xu Y, Lv X, Xu C, Xu X.
    Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array.
    Mol Cytogenet. 2021 Mar 19;14(1):19.
  1290. Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Björck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjö A, Hellström-Pigg M, Iwarsson E, Jemt A, Laaksonen M, Enoksson SL, Malmgren H, Naess K, Nordenskjöld M, Oscarson M, Pettersson M, Rasi C, Rosenbaum A, Sahlin E, Sardh E, Stödberg T, Tesi B, Tham E, Thonberg H, Töhönen V, von Döbeln U, Vassiliou D, Vonlanthen S, Wikström AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterström RH, Marits P, Soller MJ, Nordgren A, Wirta V, Lindstrand A, Wedell A.
    Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
    Genome Med. 2021 Mar 17;13(1):40.
  1291. Järvelä I, Määttä T, Acharya A, Leppälä J, Jhangiani SN, Arvio M, Siren A, Kankuri-Tammilehto M, Kokkonen H, Palomäki M, Varilo T, Fang M, Hadley TD, Jolly A, Linnankivi T, Paetau R, Saarela A, Kälviäinen R, Olme J, Nouel-Saied LM, Cornejo-Sanchez DM, Llaci L, Lupski JR, Posey JE, Leal SM, Schrauwen I.
    Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
    Hum Genet.     2021 Jul;140(7):1011-102.
  1292. Tüysüz B, Güneş N, Geyik F, Yeşil G, Celkan T, Vural M.
    Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum.
    Am J Med Genet A.     2021 Jun;185(6):1721-1731.
  1293. Heald M, Adams D, Walls E, Oliver C.
    Refining the behavioral phenotype of Angelman syndrome: Examining differences in motivation for social contact between genetic subgroups.
    Front Behav Neurosci. 2021 Feb 16;15:618271.
  1294. Pauler FM, Hudson QJ, Laukoter S, Hippenmeyer S.
    Inducible uniparental chromosome disomy to probe genomic imprinting at single-cell level in brain and beyond.
    Neurochem Int. 2021 May;145:104986.
  1295. Lindgren V, Cobian K, Bhat G.
    Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14.
    Am J Med Genet A. 2021 May;185(5):1538-1543.
  1296. Dağdeviren Çakır A, Baş F, Akın O, Şıklar Z, Özcabı B, Berberoğlu M, Kardelen AD, Bayramoglu E, Poyrazoğlu Ş, Aydın M, Törel Ergür A, Gökşen D, Bolu S, Aycan Z, Tüysüz B, Ercan O, Evliyaoglu O.
    Clinical characteristics and growth hormone treatment in patients with Prader-Willi syndrome.
    J Clin Res Pediatr Endocrinol.     2021 Aug 23;13(3):308-319.
  1297. Kim SY, Shin CH, Lee YA, Shin CH, Yang SW, Cho TJ, Ko JM.
    Clinical application of sequential epigenetic analysis for diagnosis of Silver-Russell syndrome.
    Ann Lab Med. 2021 Jul 1;41(4):401-408. 
  1298. Masset H, Tšuiko O, Vermeesch JR.
    Genome-wide abnormalities in embryos: Origins and clinical consequences.
    Prenat Diagn. 2021 Apr;41(5):554-563.
  1299. Forster J, Duis J, Butler MG.
    Pharmacogenetic testing of cytochrome P450 drug metabolizing enzymes in a case series of patients with Prader-Willi syndrome.
    Genes (Basel). 2021 Jan 24;12(2):152.
  1300. Scuffins J, Keller-Ramey J, Dyer L, Douglas G, Torene R, Gainullin V, Juusola J, Meck J, Retterer K.
    Uniparental disomy in a population of 32,067 clinical exome trios.
    Genet Med. 2021 Jun;23(6):1101-1107..
  1301. Chen CP, Lin SP, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Wang W.
    Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism.
    Taiwan J Obstet Gynecol. 2021 Jan;60(1):169-172.
  1302. Yang M, Xu B, Wang J, Zhang Z, Xie H, Wang H, Hu T, Liu S.
    Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability.
    Epilepsy Res. 2021 Feb;170:106552.
  1303. Choufani S, Ko JM, Lou Y, Shuman C, Fishman L, Weksberg R.
    Paternal uniparental disomy of the entire chromosome 20 in a child with Beckwith-Wiedemann syndrome.
    Genes (Basel). 2021 Jan 27;12(2):172.
  1304. Carli D, De Pellegrin M, Franceschi L, Zinali F, Paonessa M, Spolaore S, Cardaropoli S, Cravino M, Marcucci L, Andreacchio A, Resta N, Ferrero GB, Mussa A.
    Evolution over time of leg length discrepancy in patients with syndromic and isolated lateralized overgrowth.
    J Pediatr. 2021 Jul;234:123-127.
  1305. Doniec A, Łuczak W, Wróbel M, Januła M, Ossowski A, Grzmil P, Kupiec T.
    Confirmation of paternity despite three genetic incompatibilities at chromosome 2.
    Genes (Basel). 2021 Jan 4;12(1):62.
  1306. Zhu X, Lam DYM, Chau MHK, Xue S, Dai P, Zhao G, Cao Y, Cheung SWH, Kwok YKY, Choy KW, Kong X, Leung TY.
    Clinical significance of non-invasive prenatal screening for trisomy 7: Cohort study and literature review.
    Genes (Basel). 2020 Dec 24;12(1):11.
  1307. Kang P, Zhang W, Wen J, Zhang J, Li F, Sun W.
    Case report: Genetic and clinical features of maternal uniparental isodisomy-induced thiamine-responsive megaloblastic anemia syndrome.
    Front Pediatr. 2021 Mar 19;9:630329.
  1308. Song J, Zhu L, Zhang C, Wu Y, Wang B.
    A rare case of complete uniparental isodisomy of chromosome 2 with no phenotypic abnormalities.
    Taiwan J Obstet Gynecol. 2021 Mar;60(2):378-379.
  1309. Song J, Zhu L, Zhou T, Wang B.
    A rare case of uniparental isodisomy of chromosome 19 with no phenotypic abnormalities.
    Taiwan J Obstet Gynecol. 2021 Mar;60(2):376-377.
  1310. Ziegler M, Russell BE, Eberhardt K, Geisel G, D'Amore A, Sahin M, Kornblum HI, Ebrahimi-Fakhari D.
    Blended phenotype of Silver-Russell syndrome and SPG50 caused by maternal isodisomy of chromosome 7.
    Neurol Genet. 2020 Dec 29;7(1):e544.
  1311. Hureaux M, Chantot-Bastaraud S, Cassinari K, Martinez Casado E, Cuny A, Frébourg T, Vargas-Poussou R, Bréhin AC.
    When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20.
    Mol Cytogenet. 2021 May 5;14(1):23.
  1312. Ardisia C, D'adamo PA, Cappellani S, Stampalija T, Bosio B, Faletra F, Ulivi S, Gasparini P.
    SNP array analysis of spontaneous abortions in 1st and 2nd trimesters.P array analysis of spontaneous abortions in 1st and 2nd trimesters.
    ECA-Newsletter 2021, 48, Poster6.P6 6.P66.P6.
  1313. Dagli AI, Mathews J, Williams CA.
    Angelman Syndrome.
    1998 Sep 15 [updated 2021 Apr 22]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.
  1314. Tannorella P, Minervino D, Guzzetti S, Vimercati A, Calzari L, Patti G, Maghnie M, Allegri AEM, Milani D, Scuvera G, Mariani M, Modena P, Selicorni A, Larizza L, Russo S.
    Maternal uniparental disomy of chromosome 20 (UPD(20)mat) as differential diagnosis of Silver Russell syndrome: Identification of three new cases.
    Genes (Basel). 2021 Apr 17;12(4):588.
  1315. Pignata L, Sparago A, Palumbo O, Andreucci E, Lapi E, Tenconi R, Carella M, Riccio A, Cerrato F.
    Mosaic segmental and whole-chromosome Upd(11)mat in Silver-Russell Syndrome.
    Genes (Basel). 2021 Apr 16;12(4):581.
  1316. Lecka-Ambroziak A, Wysocka-Mincewicz M, Doleżal-Ołtarzewska K, Zygmunt-Górska A, Żak T, Noczyńska A, Birkholz-Walerzak D, Stawerska R, Hilczer M, Obara-Moszyńska M, Rabska-Pietrzak B, Gołębiowska E, Dudek A, Petriczko E, Szalecki M, On Behalf Of The Polish Coordination Group For rhGH Treatment.
    Correlation of genotype and perinatal period, time of diagnosis and anthropometric data before commencement of recombinant human growth hormone treatment in Polish patients with Prader-Willi Syndrome.
    Diagnostics (Basel). 2021 Apr 28;11(5):798.
  1317. Schweiger BM, Esakhan CL, Frishberg D, Grand K, Garg R, Sanchez-Lara PA.
    Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome.
    Am J Med Genet A. 2021 Sep;185(9):2824-2828.
  1318. Chen CP, Ko TM, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Town DD, Chen LF, Wang W.
    Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus.
    Taiwan J Obstet Gynecol. 2021 May;60(3):534-539.
  1319. Eggenhuizen GM, Go A, Koster MPH, Baart EB, Galjaard RJ.
    Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature.
    Hum Reprod Update. 2021 Aug 20;27(5):885-903.
  1320. Zhai H, Zheng Y, He Y, Zhang Y, Guo Z, Cui W, Sun L.
    A case report of infantile parkinsonism-dystonia-2 caused by homozygous mutation in the SLC18A2 gene.
    Int J Neurosci. 2021 Jun 24;1-4.
  1321. Lyu J, Huang Z, Chen H, Sun X, Liu Y, Yuan C, Ye L, Yu D, Wu J.
    Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea.
    J Clin Lab Anal. 2021 Jul;35(7):e23862.
  1322. Huang Y, Grand K, Kimonis V, Butler MG, Jain S, Huang AY, Martinez-Agosto JA, Nelson SF, Sanchez-Lara PA.
    Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome.
    J Med Genet. 2022 Jul;59(7):719-722
  1323. Lee S, Shin CH, Lee J, Jeong SD, Hong CR, Kim JD, Kim AR, Park B, Son SJ, Kokhan O, Yoo T, Ko JS, Sohn YB, Kim OH, Ko JM, Cho TJ, Wright NT, Seong JK, Jin SW, Kang HJ, Kim HH, Choi M.
    Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
    Blood. 2021 Nov 25;138(21):2117-2128.
  1324. Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R, Didi M, Shaw N, Metherell LA, Savage MO, Storr HL. Genetic
    Characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes.
    J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4716-e4733.
  1325. Danzig J, Li D, Jan de Beur S, Levine MA.
    High-throughput molecular analysis of Pseudohypoparathyroidism 1b patients reveals novel genetic and epigenetic defects.
    J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4603-e4620.
  1326. Rios-Flores IM, Bobadilla-Morales L, Peña Padilla C, Corona-Rivera A, Acosta-Fernández E, Santana-Hernández J, Brukman-Jiménez SA, Corona Rivera JR.
    Síndromes Prader-Willi y Angelman: serie de casos diagnosticados mediante la técnica de MS-MLPA [Prader-Willi and Angelman syndromes: case series diagnosed by MS-MLPA assay].
    Rev Med Inst Mex Seguro Soc. 2021 Jun 14;59(2):170-178. Spanish.
  1327. Ortega V, Louie RJ, Jones MA, Chaubey A, DuPont BR, Britt A, Ray J, McLean SD, Littlejohn RO, Velagaleti G.
    Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes?
    Mol Cytogenet. 2021 Jul 14;14(1):37.
  1328. Lin YH, Wu PC, Tsai CY, Lin YH, Lo MY, Hsu SJ, Lin PH, Erdenechuluun J, Wu HP, Hsu CJ, Wu CC, Chen PL.
    Hearing Impairment with monoallelic GJB2 variants: A GJB2 cause or non-GJB2 cause?
    J Mol Diagn. 2021 Oct;23(10):1279-1291.
  1329. Kohl S, Baumann B, Dassie F, Mayer AK, Solaki M, Reuter P, Kühlewein L, Wissinger B, Maffei P.
    Paternal uniparental isodisomy of chromosome 2 in a patient with CNGA3-associated autosomal recessive achromatopsia.
    Int J Mol Sci. 2021 Jul 22;22(15):7842.
  1330. Delvecchio M, Ortolani F, Palumbo O, Aloi C, Salina A, Susca FC, Palumbo P, Carella M, Resta N, Piccinno E.
    A novel genetic variant in the WFS1 gene in a patient with partial uniparental mero-isodisomy of chromosome 4.
    Int J Mol Sci. 2021 Jul 28;22(15):8082.
  1331. Kim B, Park Y, Cho SI, Kim MJ, Chae JH, Kim JY, Seong MW, Park SS.
    Clinical utility of methylation-specific multiplex ligation-dependent probe amplification for the diagnosis of Prader-Willi syndrome and Angelman syndrome.
    Ann Lab Med. 2022 Jan 1;42(1):79-88.
  1332. Wang H, Huo L, Wang Y, Sun W, Gu W.
    Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.
    Mol Genet Genomic Med. 2021 Oct;9(10):e1779.
  1333. Mazza MC, Beilina A, Roosen DA, Hauser D, Cookson MR.
    Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation.
    Stem Cell Res. 2021 Aug;55:102506.
  1334. Tan YR, Tan HK.
    A rare case of hemoglobin Bart's hydrops fetalis due to uniparental disomy of chromosome 16.
    J Med Cases. 2021 Jul;12(7):275-279.
  1335. Kopp J, Has C, Hotz A, Grünert SC, Fischer J.
    Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome.
    Genes (Basel). 2021 Jul 29;12(8):1164.
  1336. Sjöström A, Pellikaan K, Sjöström H, Goldstone AP, Grugni G, Crinò A, De Graaff LCG, Höybye C.
    Hyperprolactinemia in adults with Prader-Willi syndrome.
    J Clin Med. 2021 Aug 16;10(16):3613.
  1337. Yang M, Ye J, Han L, Qiu W, Yu Y, Gu X, Zhang H.
    One-year follow-up of thyroid function in 23 infants with Prader- Willi syndrome at a single center in China.
    Intractable Rare Dis Res. 2021 Aug;10(3):198-201.
  1338. Brault J, Walsh L, Vance GH, Weaver DD.
    Klinefelter's syndrome with maternal uniparental disomy X, interstitial Xp22.31 deletion, X-linked ichthyosis, and severe central nervous system regression.
    J Pediatr Genet. 2021 Sep;10(3):222-229.
  1339. Sassi H, Elaribi Y, Jilani H, Rejeb I, Hizem S, Sebai M, Kasdallah N, Bouthour H, Hannachi S, Beygo J, Saad A, Buiting K, H'mida Ben-Brahim D, BenJemaa L.
    Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
    Mol Genet Genomic Med. 2021 Oct;9(10):e1796.
  1340. Wang L, Liu P, Bi W, Sim T, Wang X, Walkiewicz M, Leduc MS, Meng L, Xia F, Eng CM, Yang Y, Yuan B, Dai H.
    Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
    Mol Genet Genomic Med. 2021 Nov;9(11):e1792.
  1341. Tao Y, Han D, Wei Y, Wang L, Song W, Li X.
    Case report: Complete maternal uniparental disomy of chromosome 2 with a novel UNC80 splicing variant c.5609-4G> A in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies 2.
    Front Genet. 2021 Sep 14;12:747422.
  1342. Li MW, Li F, Cheng J, Wang F, Zhou P.
    Recurrent androgenetic complete hydatidiform moles with p57KIP2-positive in a Chinese family.
    Reprod Sci. 2022 Jun;29(6):1749-1755.
  1343. Tanase-Nakao K, Kawai M, Wada K, Kagami M, Narumi S.
    Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant.
    Clin Pediatr Endocrinol. 2021;30(4):163-169.
  1344. Hnoonual A, Kor-Anantakul P, Charalsawadi C, Worachotekamjorn J, Limprasert P.
    Case report: An atypical Angelman syndrome case with obesity and fulfilled autism spectrum disorder identified by microarray.
    Front Genet. 2021 Sep 22;12:755605.
  1345. Cheng HL, Shao YR, Dong Y, Dong HL, Yang L, Ma Y, Shen Y, Wu ZY.
    Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.
    Transl Neurodegener. 2021 Oct 18;10(1):40.
  1346. Liu Y, Wang H, Jin X, Shao Q, Pan Q.
    Molecular diagnosis and prenatal phenotype analysis of eight fetuses with ciliopathies.
    Front Genet. 2021 Oct 5;12:705808.
  1347. Chen W, Chen F, Shen Y, Yang Z, Qin J.
    Case report: A case of epileptic disorder associated with a novel CNTN2 frameshift variant in homozygosity due to maternal uniparental disomy.
    Front Genet. 2021 Oct 8;12:743833.
  1348. Zhu L, Zhang H, Li Z, Liu W, Sun X.
    [Clinical practice guidelines for the diagnosis of regions of homozygosity and uniparental disomy].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Nov 10;38(11):1140-1144. Chinese.
  1349. Bu X, Li X, Zhou S, Shi L, Jiang X, Peng C, Li H, He J.
    Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report.
    Mol Cytogenet. 2021 Nov 6;14(1):50.
  1350. Li F, Liu S, Jia B, Wu R, Chang Q.
    Prenatal diagnosis of a mosaic paternal uniparental disomy for chromosome 14: A case report of Kagami-Ogata syndrome.
    Front Pediatr. 2021 Oct 21;9:691761.
  1351. Zhang X, Liu L, Liu Y, Pan X.
    Case report: Paternal uniparental isodisomy and heterodisomy of chromosome 16 with a normal phenotype.
    Front Pediatr. 2021 Oct 22;9:732645.
  1352. Capalbo A, Poli M, Rienzi L, Girardi L, Patassini C, Fabiani M, Cimadomo D, Benini F, Farcomeni A, Cuzzi J, Rubio C, Albani E, Sacchi L, Vaiarelli A, Figliuzzi M, Findikli N, Coban O, Boynukalin FK, Vogel I, Hoffmann E, Livi C, Levi-Setti PE, Ubaldi FM, Simón C.
    Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.
    Am J Hum Genet. 2021 Dec 2;108(12):2238-2247.
  1353. Pinto EM, Rodriguez-Galindo C, Lam CG, Ruiz RE, Zambetti GP, Ribeiro RC.
    Adrenocortical tumors in children with constitutive chromosome 11p15 paternal uniparental disomy: Implications for diagnosis and treatment.
    Front Endocrinol (Lausanne). 2021 Nov 5;12:756523.
  1354. Miclea D, Alkhzouz C, Bucerzan S, Grigorescu-Sido P, Popp RA, Pascanu IM, Cret V, Ghervan C, Blaga L, Zaharie G.
    Molecular and cytogenetic analysis of Romanian patients with differences in sex development.
    Diagnostics (Basel). 2021 Nov 14;11(11):2107.
  1355. Lin HY, Lee CL, Fran S, Tu RY, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Yang CF, Tsai MC, Chu TH, Chuang CK, Lin SP.
    Quantitative DNA methylation analysis and epigenotype-phenotype correlations in Taiwanese patients with Beckwith-Wiedemann syndrome.
    J Pers Med. 2021 Oct 22;11(11):1066.
  1356. Berland S, Rustad CF, Bentsen MHL, Wollen EJ, Turowski G, Johansson S, Houge G, Haukanes BI.
    Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.
    Cold Spring Harb Mol Case Stud. 2021 2021 Dec 9;7(6):a006113
  1357. Schüle I, Berger U, Matysiak U, Ruzaike G, Stiller B, Pohl M, Spiekerkoetter U, Lausch E, Grünert SC, Schmidts M.
    A homozygous deletion of exon 5 of KYNU resulting from a maternal chromosome 2 isodisomy (UPD2) causes Catel-Manzke-syndrome/VCRL syndrome.
    Genes (Basel). 2021 Jun 7;12(6):879.
  1358. Strom SP, Hossain WA, Grigorian M, Li M, Fierro J, Scaringe W, Yen HY, Teguh M, Liu J, Gao H, Butler MG.
    A streamlined approach to Prader-Willi and Angelman syndrome molecular diagnostics.
    Front Genet. 2021 May 11;12:608889.
  1359. Xiao C, Markello T, Zein WM, Bishop R, Groden C, Gahl W, Toro C.
    PARK7-related early onset Parkinson disease in the setting of complete uniparental isodisomy of chromosome 1.
    Neurol Genet. 2021 Jul 15;7(4):e606.
  1360. Baker SW, Ryan E, Kalish JM, Ganguly A.
    Prenatal molecular testing and diagnosis of Beckwith-Wiedemann syndrome.
    Prenat Diagn. 2021 Jun;41(7):817-822.
  1361. Qian Y, Wu B, Liu R, Lu Y, Zhang P, Shao C, Huang Y, Wang H.
    Case report: Complete maternal uniparental isodisomy of chromosome 5 (iUPD(5)mat) with PCSK1 nonsense variant in an infant with recurrent diarrhea.
    Front Genet. 2021 May 6;12:668326.
  1362. Motta FL, Filippelli-Silva R, Kitajima JP, Batista DA, Wohler ES, Sobreira NL, Martin RP, Ferraz Sallum JM.
    Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.
    Ophthalmic Genet. 2021 Oct;42(5):553-560.
  1363. Papenhausen PR, Kelly CA, Harris S, Caldwell S, Schwartz S, Penton A.
    Clinical significance and mechanisms associated with segmental UPD.
    Mol Cytogenet. 2021 Jul 20;14(1):38.
  1364. Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M.
    A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.
    J Hum Genet. 2021 Nov;66(11):1121-1126.
  1365. Ueda K, Ogawa S, Matsuda K, Hasegawa Y, Nishi E, Yanagi K, Kaname T, Yamamoto T, Okamoto N.
    Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
    Am J Med Genet A. 2021 Oct;185(10):3092-3098.
  1366. Blanluet M, Chantot-Bastaraud S, Chambon P, Cassinari K, Vera G, Goldenberg A, Keren B, Le Meur N, Hannequin D, Mace B, Siffroi JP, Frebourg T, Nicolas G, Joly-Helas G.
    Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
    Am J Med Genet A. 2021 Oct;185(10):3057-3061.
  1367. Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG.
    Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
    Brain. 2021 Nov 29;144(10):3239-3250.
  1368. Tolomeo D, Rubegni A, Nesti C, Barghigiani M, Battini R, D'Amore F, Doccini S, Donati MA, Galatolo D, Giglio S, Guarducci S, Pantaleo M, Pasquariello R, Procopio E, Pochiero F, Tessa A, Santorelli FMM.
    Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission.
    J Med Genet. 2021 Aug;58(8):543-546.
  1369. Alhendi ASN, Lim D, McKee S, McEntagart M, Tatton-Brown K, Temple IK, Davies JH, Mackay DJG.
    Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.
    J Med Genet. 2022 Jun;59(6):613-622.
  1370. Hadouiri N, Thomas Q, Darmency V, Dulieu V, De Rougemont MM, Bruel AL, Duffourd Y, Lecoquierre F, Colomb B, Perez-Martin S, Ornetti P, Blanchard O, Sorlin A, Philippe C, Faivre L, Vitobello A, Thauvin-Robinet C. Homozygous
    TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18.
    Clin Genet. 2021 Nov;100(5):643-644.
  1371. Tan S, Pan P, Yang Z, Su J, Wei H.
    Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion.
    J Obstet Gynaecol Res. 2021 Nov;47(11):3779-3788.
  1372. Kanber D, Buiting K, Roos C, Gromoll J, Kaya S, Horsthemke B, Lohmann D.
    The origin of the RB1 imprint.
    PLoS One. 2013 Nov 25;8(11):e81502.
  1373. Hofmeister RJ,  Rubinacci S, Ribeiro DM, Kutalik Z, Buil A, Delaneau O.
    Parent-of-origin effects in the UK Biobank.
    Preprintin bioRxiv - doi: https://doi.org/10.1101/2021.11.03.467079
  1374. Klein J, Shaffer LG, McCaskill C,Scheere L, Otto L,Main D, Thangaveul M, Goldberg J.
    Delineation of the paternal disomy 14 syndrone: identification of a case by prenatal diagnosis. 
    Am J Hum Genet 1999, 65(Suppl): 179.
  1375. Caldwell S, Sagaser K, Nelson Z, Frey J, Wardrop J, Boomer T, McCullough R, Schwartz S.
    Deletion rescue resulting in segmental homozygosity: A mechanism underlying discordant NIPT results.
    Am J Med Genet A. 2020 Nov;182(11):2666-2670.
  1376. Yu C, Tian Y, Qi L, Wang B.
    Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities.
    Mol Cytogenet. 2022 Apr 26;15(1):18.
  1377. Receveur A, Puisney-Dakhli C, Kleinfinger P, Gitz L, Grevoul-Fesquet J, Jouni D, Diot R, Tachdjian G, Petit F.
    First prenatal case of Kagami-Ogata syndrome associated with a small supernumerary marker chromosome derived from chromosome 15.
    Taiwan J Obstet Gynecol. 2022 Mar;61(2):382-384.
  1378. Zhang L, Liu X, Zhao Y, Wang Q, Zhang Y, Gao H, Zhang B, Cui W, Zhao Y.
    Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome.
    Ital J Pediatr. 2022 Jul 23;48(1):121.
  1379. Li Q, Zhu X, Yu C, Shang L, Li R, Wang X, Yang Y, Meng J, Kong X.
    Case report: A novel homozygous mutation in MYF5 due to paternal uniparental isodisomy of chromosome 12 in a case of external ophthalmoplegia with rib and vertebral anomalies.
    Front Genet. 2022 Feb 3;12:780363.
  1380. Wang J, Zhang C, Tang H, Zheng A, Li H, Yang S, Xiang J.
    Successful results of intracytoplasmic sperm injection of a Chinese patient with multiple morphological abnormalities of sperm flagella caused by a novel splicing mutation in CFAP251.
    Front Genet. 2022 Jan 11;12:783790.
  1381. Gonzales PR, Andersen EF, Brown TR, Horner VL, Horwitz J, Rehder CW, Rudy NL, Robin NH, Thorland EC, On Behalf Of The Acmg Laboratory Quality Assurance Committee.
    Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
    Genet Med. 2022 Feb;24(2):255-261.
  1382. Soejima H, Hara S, Ohba T, Higashimoto K.
    Placental mesenchymal dysplasia and Beckwith-Wiedemann syndrome.
    Cancers (Basel). 2022 Nov 12;14(22):5563.
  1383. Eggermann T, Prawitt D.
    Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome.
    Expert Rev Endocrinol Metab. 2022 Nov;17(6):513-521.
  1384. Juriaans AF, Kerkhof GF, Mahabier EF, Sas TCJ, Zwaveling-Soonawala N, Touwslager RNH, Rotteveel J, Hokken-Koelega ACS.
    Temple syndrome: Clinical findings, body composition and cognition in 15 patients.
    J Clin Med. 2022 Oct 25;11(21):6289.
  1385. Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T.
    First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
    Clin Epigenetics. 2022 Nov 7;14(1):143.
  1386. Wieland I, Schanze I, Felgendreher IM, Barthlen W, Vogelgesang S, Mohnike K, Zenker M.
    Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.
    Front Endocrinol (Lausanne). 2022 Oct 21;13:1015244.
  1387. Kang H, Wang L, Li X, Gao C, Xie Y, Hu Y.
    Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results.
    BMC Pregnancy Childbirth. 2022 Nov 4;22(1):813.
  1388. Acosta-Fernández E, Corona-Rivera JR, Ríos-Flores IM, Torres-Anguiano E, Corona-Rivera A, Peña-Padilla C, Bobadilla-Morales L.
    Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
    Gac Med Mex. 2022;158(4):202-209.
  1389. Hu T, Wang J, Zhu Q, Zhang Z, Hu R, Xiao L, Yang Y, Liao N, Liu S, Wang H, Niu X, Liu S.
    Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies.
    Front Genet. 2022 Sep 26;13:955694.
  1390. Fujimoto M, Nakamura Y, Iwaki T, Sato E, Ieda D, Hattori A, Shiraki A, Mizuno S, Saitoh S.
    Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.
    J Hum Genet. 2023 Feb;68(2):87-90.
  1391. Schlade-Bartusiak K, Strong E, Zhu O, Mackie J, Salema D, Volodarsky M, Roberts J, Steinraths M.
    Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15.
    F S Rep. 2022 May 10;3(3):192-197.
  1392. Zhao S, Che F, Yang L, Zheng Y, Wang D, Yang Y, Wang Y.
    First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations.
    Front Genet. 2022 Sep 15;13:977914.
  1393. Molloy B, Jones ER, Linhares ND, Buckley PG, Leahy TR, Lynch B, Knerr I, King MD, Gorman KM.
    Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes.
    Front Genet. 2022 Sep 14;13:945296.
  1394. Hattori A, Okuyama T, So T, Kosuga M, Ichimoto K, Murayama K, Kagami M, Fukami M, Fukuhara Y.
    Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.
    Hum Genome Var. 2022 Sep 12;9(1):32.
  1395. Patti G, Malerba F, Calevo MG, Schiavone M, Scaglione M, Casalini E, Russo S, Fava D, Bassi M, Napoli F, Allegri AEM, D'Annunzio G, Gastaldi R, Maghnie M, Di Iorgi N.
    Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age.
    Front Endocrinol (Lausanne). 2022 Aug 24;13:975511.
  1396. Kuriki A, Hosoya S, Ozawa K, Wada S, Kosugi Y, Wada YS, Sekizawa A, Miyazaki O, Kagami M, Sago H.
    Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome.
    J Obstet Gynaecol Res. 2022 Dec;48(12):3314-3318.
  1397. Dong Y, Zhang C, Jin L, Li D, Chen W, Huo H, Li S.
    PMM2 and NARFL are paternally imprinted genes in bovines.
    Anim Genet. 2022 Oct;53(5):592-598.
  1398. Villafuerte-De la Cruz R, Chacon-Camacho OF, Rodriguez-Martinez AC, Xilotl-De Jesus N, Arce-Gonzalez R, Rodriguez-De la Torre C, Valdez-Garcia JE, Rojas-Martinez A, Zenteno JC.
    Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1.
    Front Genet. 2022 Aug 16;13:949437.
  1399. Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y.
    Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.
    Sci Rep. 2022 Aug 26;12(1):14589.
  1400. Zhang L, Hu Y, Lu J, Zhao P, Zhang X, Tan L, Li J, Xiao C, Zeng L, He X.
    Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy.
    Front Genet. 2022 Aug 8;13:931833. Erratum in: Front Genet. 2022 Oct 21;13:1036144.
  1401. Liang D, Aygün N, Matoba N, Ideraabdullah FY, Love MI, Stein JL.
    Inference of putative cell-type specific imprinted regulatory elements and genes during human neuronal differentiation.
    Hum Mol Genet. 2022 Aug 22:ddac207.
  1402. Jawahir-Schonauer J, Norman A, Mbanugo C, Yu G, Rowsey RA, MacDonald E, Romero VC.
    Prenatal diagnosis and fetal outcome with mosaic genome-wide uniparental disomy.
    Fetal Diagn Ther. 2022;49(7-8):301-305.
  1403. Wallerstein V, Grant L, Wallerstein R.
    Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay.
    Clin Case Rep. 2022 Jul 22;10(7):e5956.
  1404. Liang B, Yu D, Zhao W, Wang Y, Wang X, Wu X, Chen L, Chen M, Zhang M, Chen X, Lin N, Huang H, Xu L.
    Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study.
    J Hum Genet. 2022 Nov;67(11):629-638.
  1405. Tantravahi SK, Huber BD, Vagher J, Maese L, Pomicter AD, Al-Sweel N, Asch JD, Toydemir RM, Hong B, Parker C.
    Genome-wide uniparental disomy as a mechanism of immune escape in acquired aplastic anaemia.
    Br J Haematol. 2022 Sep;198(6):e78-e81.
  1406. Carli D, Operti M, Russo S, Cocchi G, Milani D, Leoni C, Prada E, Melis D, Falco M, Spina J, Uliana V, Sara O, Sirchia F, Tarani L, Macchiaiolo M, Cerrato F, Sparago A, Pignata L, Tannorella P, Cardaropoli S, Bartuli A, Riccio A, Ferrero GB, Mussa A.
    Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
    Clin Genet. 2022 Oct;102(4):314-323.
  1407. Eisfeldt J, Rezayee F, Pettersson M, Lagerstedt K, Malmgren H, Falk A, Grigelioniene G, Lindstrand A.
    Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation.
    Hum Mutat. 2022 Nov;43(11):1567-1575.
  1408. Oto Y, Murakami N, Nakagawa R, Itoh M, Nagai T, Matsubara T.
    Three pediatric cases of symptomatic hyponatremia in Prader-Willi syndrome.
    J Pediatr Endocrinol Metab. 2022 Jul 12;35(10):1302-1305.
  1409. Kivrak Pfiffner F, Koller S, Ménétrey A, Graf U, Bähr L, Maspoli A, Hackenberg A, Kottke R, Gerth-Kahlert C, Berger W.
    Homozygosity for a novel DOCK7 variant due to segmental uniparental isodisomy of chromosome 1 associated with early infantile epileptic encephalopathy (EIEE) and cortical visual impairment.
    Int J Mol Sci. 2022 Jul 2;23(13):7382.
  1410. Liu J, Chen B, Liu Y, Kong J, Zhang B, Han L, Mei D, Ma CY, Shang Q, Xie Z, Xiao M, Mei S, Zhang Y, Gao C, Li D.
    Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability.
    Eur J Med Genet. 2022 Sep;65(9):104554.
  1411. Chen CP, Liou JD, Chern SR, Wu PS, Chen SW, Wu FT, Lee MS, Chen YY, Wang W.
    Prenatal diagnosis of maternal uniparental disomy 21 in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome.
    Taiwan J Obstet Gynecol. 2022 Jan;61(1):146-149.
  1412. Chen CP, Su JW, Chern SR, Wu PS, Chen SW, Wu FT, Chen WL, Lee MS, Pan CW, Chen YY, Wang W.
    Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 18 at amniocentesis in a pregnancy with a favorable fetal outcome and maternal uniparental disomy 18.
    Taiwan J Obstet Gynecol. 2022 Jul;61(4):684-689.
  1413. Kim HY, Shin CH, Lee YA, Shin CH, Kim GH, Ko JM.
    Deciphering epigenetic backgrounds in a Korean cohort with Beckwith-Wiedemann syndrome.
    Ann Lab Med. 2022 Nov 1;42(6):668-677.
  1414. Cheng L, Li Y, Zhou W, Bo T.
    Case report: Novel mutation of F5 with maternal uniparental disomy causes severe congenital factor V deficiency.
    Front Pediatr. 2022 Jun 7;10:913050.
  1415. Zuffardi O, Fichera M, Bonaglia MC.
    The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?
    Eur J Med Genet. 2022 Aug;65(8):104532.
  1416. Wang Y, Yu D, Wei W, Zheng H, Liu MH, Ma L, Qin LN, Wang NZ, Li JX, Wang JJ, Bi XL, Yan HL.
    First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.
    BMC Med Genomics. 2022 Jun 18;15(1):136.
  1417. Huang H, Cai M, Xue H, Xu L, Lin N.
    Single nucleotide polymorphism array in genetic evaluation of fetal ultrasound abnormalities: a retrospective follow-up study.
    Am J Transl Res. 2022 May 15;14(5):3516-3524.
  1418. Chen Y, Li Z, Liu C, Wang S.
    Secondary acrodermatitis enteropathica-like skin findings in a case of methylmalonic acidemia.
    Pediatr Dermatol. 2022 Nov;39(6):987-989.
  1419. Mykytenko DO, Tomiak MV, Fesai OA, Sadovska MS, Mykytenko NM.
    Placental mosaicism: Complete discordance between the placenta and the fetus. Clinical case record.
    Wiad Lek. 2022;75(3):742-746.
  1420. Cranston T, Boon H, Olesen MK, Ryan FJ, Shears D, London R, Rostom H, Elajnaf T, Thakker RV, Hannan FM.
    Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
    Eur J Endocrinol. 2022 May 24;187(1):111-122.
  1421. O'Hora KP, Zhang Z, Vajdi A, Kushan-Wells L, Huang ZS, Pacheco-Hansen L, Roof E, Holland A, Gur RC, Bearden CE.
    Neurobehavioral dimensions of Prader Willi syndrome: Relationships between sleep and psychosis-risk symptoms.
    Front Psychiatry. 2022 Apr 13;13:868536.
  1422. Bedoukian EC, O'Neil EC, Aleman TS.
    RP1    -associated recessive retinitis pigmentosa caused by paternal uniparental disomy.
    Ophthalmic Genet. 2022 Aug;43(4):555-560.
  1423. Zhu LF, Zhang HM, Mai LH, Sun XF, Liu WQ.
    [Detection rate and clinical significance of regions of homozygosity in prenatal genetic diagnosis].
    Zhonghua Fu Chan Ke Za Zhi. 2022 Apr 25;57(4):271-277. Chinese.- abstract not informative enough to be included in database.
  1424. Ralph D, Nitschke Y, Levine MA, Caffet M, Wurst T, Saeidian AH, Youssefian L, Vahidnezhad H, Terry SF, Rutsch F, Uitto J, Li Q.
    ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
    PLoS Genet. 2022 Apr 28;18(4):e1010192.
  1425. D'Haenens E, Vergult S, Menten B, Dheedene A, Kooy RF, Callewaert B.
    Expanding the phenotype of B3GALNT2-related disorders.
    Genes (Basel). 2022 Apr 14;13(4):694.
  1426. Özer E, Geyik F, Alp Ünkar Z, Ercan O, Tüysüz B.
    The methylation status in the chromosome 11p15.5 region and metabolic disorders in children with syndromic and nonsyndromic intrauterine growth restriction.
    Mol Syndromol. 2022 Feb;13(2):108-116.
  1427. Chien SC, Chen CP, Liou JD.
    Prenatal diagnosis and genetic counseling of uniparental disomy.
    Taiwan J Obstet Gynecol. 2022 Mar;61(2):210-215.
  1428. Okuda T, Moroto M, Yamamoto T.
    Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader-Willi syndrome caused by trisomy rescue in the neonatal period.
    J Obstet Gynaecol Res. 2022 Aug;48(8):2214-2218.
  1429. Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z.
    Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
    Clin Epigenetics. 2022 Mar 16;14(1):41.
  1430. Aoki M, Uehara S, Nishimaki H, Aoki R, Kayama K, Nagano N, Urakami T, Morioka I.
    Adrenal cytomegaly with elevated serum androgen levels in a patient with Beckwith-Wiedemann syndrome.
    Endocr J. 2022 Aug 29;69(8):919-926.
  1431. Singh A, Pajni K, Panigrahi I, Khetarpal P.
    Clinical and molecular heterogeneity of Silver Russell syndrome and therapeutic challenges: A systematic review.
    Curr Pediatr Rev. 2023;19(2):157-168.
  1432. Akutsu SN, Miyamoto T, Oba D, Tomioka K, Ochiai H, Ohashi H, Matsuura S.
    iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes.
    PLoS One. 2022 Mar 10;17(3):e0264965.
  1433. Tachibana N, Hosono K, Nomura S, Arai S, Torii K, Kurata K, Sato M, Shimakawa S, Azuma N, Ogata T, Wada Y, Okamoto N, Saitsu H, Nishina S, Hotta Y.
    Maternal uniparental isodisomy of chromosome 4 and 8 in patients with retinal dystrophy: SRD5A3-congenital disorders of glycosylation and RP1-related retinitis pigmentosa.
    Genes (Basel). 2022 Feb 16;13(2):359.
  1434. Knapp A, Jagła M, Madetko-Talowska A, Szewczyk K, Książek T, Końska K, Kwinta P.
    Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler-Najjar syndrome type I and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
    Am J Med Genet A. 2022 Jun;188(6):1848-1852.
  1435. Chen CP, Chern SR, Wu PS, Chen SW, Wu FT, Chen LF, Chen YY, Wang W.
    Detection of maternal uniparental disomy 9 in association with low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with intrauterine growth restriction, abnormal first-trimester screening result (low PAPP-A and low PlGF), maternal preeclampsia and a favorable outcome.
    Taiwan J Obstet Gynecol. 2022 Jan;61(1):141-145.
  1436. Liehr T.
    Uniparental disomy is a chromosomic disorder in the first place.
    Mol Cytogenet. 2022 Feb 17;15(1):5.
  1437. Kim B, Park Y, Cho SI, Kim MJ, Chae JH, Kim JY, Seong MW, Park SS.
    Clinical utility of methylation-specific multiplex ligation-dependent probe amplification for the diagnosis of Prader-Willi syndrome and Angelman syndrome.
    Ann Lab Med. 2022 Jan 1;42(1):79-88.
  1438. Zavarzadeh PG, Bonyadi M, Abedi Z.
    Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy.
    Genomics Inform. 2022 Sep;20(3):e28.
  1439. Masunaga Y, Nishimura G, Takahashi K, Hishiyama T, Imamura M, Kashimada K, Kadoya M, Wada Y, Okamoto N, Oba D, Ohashi H, Ikeno M, Sakamoto Y, Fukami M, Saitsu H, Ogata T.
    Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).
    Sci Rep. 2022 Oct 12;12(1):17079.
  1440. Defabianis P, Mussa A, Ninivaggi R, Carli D, Romano F.
    Maxillo-facial morphology in Beckwith-Wiedemann syndrome: A preliminary study on (epi)genotype-phenotype association in Caucasians.
    Int J Environ Res Public Health. 2022 Feb 20;19(4):2448.
  1441. Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Künstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Géli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintomé C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW.
    Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
    Blood. 2022 Feb 17;139(7):1039-1051.
  1442. Takenouchi T, Inaba M, Uehara T, Takahashi T, Kosaki K, Mizuno S.
    Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.
    Am J Med Genet A. 2018 Feb;176(2):431-437.
  1443. Kovaleva  NV, Cotter PD.
    Trisomy 14 mosaicism including concomitant uniparental disomy: Population frequency, cytogenetic profile, sex ratio, maternal age and obstetric history.
    OBM Genetics 2022; 6, doi:10.21926/obm.genet.2203162.
  1444. Xiang J, Li R, He J, Wang X, Yao L, Song N, Fu F, Zhou S, Wang J, Gao X, Peng J, Wan J, Hu L, Liu A, Guo Y, Peng C, Liu X, Lin J, Li S, Sun J, Li D, Peng Z, Liao C.
    Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy.
    Am J Obstet Gynecol MFM. 2023 Jan;5(1):100790.
  1445. Gu C, Li K, Li L, Gao H, Li R, He Y.
    Genomic imbalance in euploid pregnancy loss.
    J Assist Reprod Genet. 2022 Sep;39(9):2115-2124.
  1446. Jacobs MF, Robinson D, Wu YM, Opipari VP, Mody R.
    Homozygous ATM mutation due to germline uniparental isodisomy in patient with T acute lymphoblastic leukemia and hepatosplenic T-cell lymphoma.
    Cancer Genet. 2022 Aug;266-267:15-18.
  1447. Finley J, Hay S, Oldzej J, Meredith MM, Dzidic N, Slim R, Aradhya S, Hovanes K, Sahoo T.
    The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriages.
    Reprod Biomed Online. 2022 Jul;45(1):125-134.
  1448. Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer-Manzon M, Jiang YH, McGrath J, Li P, Bale A, Zhang H.
    Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
    Am J Med Genet A. 2022 Jun;188(6):1728-1738.
  1449. Yu PT, Shu W, Mok SL, Hui PW, Chan LW, Kwok KY, Chan KYK, Lo TK, Chung BHY, Luk HM, Kan ASY.
    Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome-An unexpected diagnosis of androgenetic chimera and its clinical implications.
    Am J Med Genet A. 2022 May;188(5):1562-1567.
  1450. Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D'Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW.
    Genomic architecture of autism from comprehensive whole-genome sequence annotation.
    Cell. 2022 Nov 10;185(23):4409-4427.e18.
  1451. Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF.
    Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
    PLoS Genet. 2013 Mar;9(3):e1003349.
  1452. Houston BJ, O'Connor AE, Wang D, Goodchild G, Merriner DJ, Luan H, Conrad DF, Nagirnaja L, Aston KI, Kliesch S, Wyrwoll MJ, Friedrich C, Tüttelmann F, Harrison C, O'Bryan MK, Walton K.
    uman INHBB gene variant (c.1079T>C:p.Met360Thr) alters testis germ cell content, but does not impact fertility in mice.
    Endocrinology. 2022 Mar 1;163(3):bqab269.
  1453. Yu W, Cao L, Lin P.
    Neuronal ceroid lipofuscinosis owing to complete maternal uniparental disomy.
    JAMA Neurol. 2022 Jul 1;79(7):720-721.
  1454. Woods E, Yates M, Kanani F, Balasubramanian M.
    Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata.
    Clin Dysmorphol. 2022 Jul 1;31(3):132-135.
  1455. Wang J, Lichty A, Johnson J, Couick C, Moore MA, Christensen B, Howard K, Lee JA, DuPont BR, Clarkson L, Hilton BA.
    Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome.
    Chromosome Res. 2023 Jan 19;31(1):1.
  1456. Lesieur-Sebellin M, Marzin P, Arnoux JB, Maurin ML, Receveur A, Cantagrel V, Rose S, Dorval G, Levy J, Malan V.
    Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion.
    Eur J Med Genet. 2023 Oct;66(10):104848.
  1457. Li H, Wang L, Zhang C.
    A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing.
    Mol Genet Genomic Med. 2023 Feb;11(2):e2110.
  1458. Sakamoto M, Shiiki T, Matsui S, Okamoto N, Koshimizu E, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Miyatake S, Misawa K, Mizuguchi T, Matsumoto N.
    A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.
    J Hum Genet. 2023 Apr;68(4):247-253.
  1459. Breet H, Vos YJ, Dijkhuizen T, Voorbij-Vierstra CL, Bolling MC, van den Akker PC.
    Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1.
    Am J Med Genet A. 2023 Mar;191(3):896-898.
  1460. Penon-Portmann M, Hodoglugil U, Arun P W, Yip T, Slavotinek A, Tenney JL.
    TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
    Am J Med Genet A. 2023 Apr;191(4):1077-1082.
  1461. Miclea D, Osan S, Bucerzan S, Stefan D, Popp R, Mager M, Puiu M, Zimbru C, Chirita-Emandi A, Alkhzouz C.
    Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability.
    Ital J Pediatr. 2022 Dec 30;48(1):207.
  1462. Yamada M, Okuno H, Okamoto N, Suzuki H, Miya F, Takenouchi T, Kosaki K.
    Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing.
    Eur J Med Genet. 2023 Feb;66(2):104690.
  1463. Mastromoro G, Guadagnolo D, Marchionni E, Torres B, Goldoni M, Onori A, Bernardini L, De Luca A, Torrente I, Pizzuti A.
    Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.
    Am J Med Genet A. 2023 Apr;191(4):1101-1106.
  1464. Lopour MQR, Schimmenti LA, Boczek NJ, Kearney HM, Drack AV, Brodsky MC.
    Alström syndrome caused by maternal uniparental disomy.
    Am J Ophthalmol Case Rep. 2022 Dec 31;29:101745.
  1465. Ma YN, Lin LL, Zhang Y, Li L, Wu HR, Xiao Y, Pan H, Yang YL, Qi Y.
    [The study of mitochondrial disorder pedigree associated with FASTKD2 variants and uniparental disomy].
    Zhonghua Yi Xue Za Zhi. 2023 Jan 17;103(3):171-177. Chinese
  1466. Burgevin M, Lacroix A, Ollivier F, Bourdet K, Coutant R, Donadille B, Faivre L, Manouvrier-Hanu S, Petit F, Thauvin-Robinet C, Toutain A, Netchine I, Odent S.
    Executive functioning in adolescents and adults with Silver-Russell syndrome.
    PLoS One. 2023 Jan 20;18(1):e0279745.
  1467. Wolfe DM, Webster Carrion A, Masukhani MM, Oberg JA, Pavisic J, El-Ali A, Gupta M, Weng K, Glasser CL.
    Concurrent hepatoblastoma and Wilms tumor leading to diagnosis of Beckwith-Wiedemann syndrome.
    J Pediatr Hematol Oncol. 2023 May 1;45(4):e525-e529.
  1468. Salvatore M, Torreri P, Grugni G, Rocchetti A, Maghnie M, Patti G, Crinò A, Elia M, Greco D, Romano C, Franzese A, Mozzillo E, Colao A, Pugliese G, Pagotto U, Lo Preiato V, Scarano E, Schiavariello C, Tornese G, Fintini D, Bocchini S, Osimani S, De Sanctis L, Sacco M, Rutigliano I, Delvecchio M, Faienza MF, Wasniewska M, Corica D, Stagi S, Guazzarotti L, Maffei P, Dassie F, Taruscio D.
    The Italian registry for patients with Prader-Willi syndrome.
    Orphanet J Rare Dis. 2023 Feb 15;18(1):28.
  1469. Hong DK, Park JE, Kang KM, Shim SH, Shim SH, Han YJ, Cho HY, Cha DH.
    Prenatal diagnosis of uniparental disomy in cases of rare autosomal trisomies detected using noninvasive prenatal test: A aase of Prader-Willi syndrome.
    Diagnostics (Basel). 2023 Feb 4;13(4):580.
  1470. Zeng X, Liu F, Xu Y, Liu F.
    A rare case of uniparental isodisomy of chromosome 7 without phenotypic anomalies.
    Ginekol Pol. 2023;94(9):752-753.
  1471. Wu T, Zhang C, He F, Yang L, Yin F, Peng J.
    Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.
    Mol Genet Genomic Med. 2023 Jul;11(7):e2162.
  1472. Ciancia S, Goedegebuure WJ, Grootjen LN, Hokken-Koelega ACS, Kerkhof GF, van der Kaay DCM.
    Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome.
    Eur J Pediatr. 2023 Jun;182(6):2607-2614.
  1473. Oto Y, Murakami N, Imatani K, Inoue T, Itabashi H, Shiraishi M, Nitta A, Matsubara K, Kobayashi S, Ihara H, Nagai T, Matsubara T.
    Perinatal and neonatal characteristics of Prader-Willi syndrome in Japan.
    Pediatr Int. 2023 Jan-Dec;65(1):e15540.
  1474. Verebi C, Caumes R, Chantot-Bastaraud S, Deburgrave N, Orhant L, Vaucouleur N, Cuisset L, Bienvenu T, Leturcq F, Nectoux J.
    How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3.
    Neuromuscul Disord. 2023 May;33(5):367-370.
  1475. Stoltze UK, Hildonen M, Hansen TVO, Foss-Skiftesvik J, Byrjalsen A, Lundsgaard M, Pignata L, Grønskov K, Tumer Z, Schmiegelow K, Brok JS, Wadt KAW.
    Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.
    J Med Genet. 2023 Sep;60(9):842-849.
  1476. Polonis K, Lopes JL, Cabral H, Babcock HE, Kline L, Ruiz KM, Schwartz S, Hasadsri L, Rowsey RA, Hoppman NL, Grant CL. 
    Uniparental disomy of multiple chromosomes in two cases with a complex phenotype.
    Am J Med Genet A. 2023 Jul;191(7):1978-1983.
  1477. Hara-Isono K, Matsubara K, Nakamura A, Sano S, Inoue T, Kawashima S, Fuke T, Yamazawa K, Fukami M, Ogata T, Kagami M.
    Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes.
    Clin Epigenetics. 2023 May 6;15(1):78.
  1478. Chen CP, Ko TM, Chen SW, Chern SR, Wu FT, Pan YT, Pan CW, Chen YY, Wang W.
    Low-level mosaic trisomy 9 at amniocentesis associated with a positive non-invasive prenatal testing for trisomy 9, maternal uniparental disomy 9, intrauterine growth restriction and a favorable fetal outcome in a pregnancy.
    Taiwan J Obstet Gynecol. 2023 May;62(3):457-460.
  1479. Cai M, Guo C, Wang X, Lin M, Xu S, Huang H, Lin N, Xu L.
    Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies.
    Exp Biol Med (Maywood). 2023 May;248(10):858-865.
  1480. Scott F, Smet ME, Elhindi J, Mogra R, Sunderland L, Ferreira A, Menezes M, Meagher S, McLennan A.
    Late first-trimester ultrasound findings can alter management after high-risk NIPT result.
    Ultrasound Obstet Gynecol. 2023 Oct;62(4):497-503.
  1481. Świąder-Leśniak A, Jurkiewicz D, Kołodziejczyk H, Kozłowska A, Korpysz A, Szalecki M, Chrzanowska K.
    The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome.
    Endokrynol Pol. 2023;74(3):285-293.
  1482. Liu YD, Tan DD, Song DY, Fan YB, Fu XN, Ge L, Wei W, Xiong H.
    Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease.
    Front Genet. 2023 Jun 5;14:1170089.
  1483. Nishimura-Kinoshita N, Ohata Y, Sawai H, Izawa M, Takeyari S, Kubota T, Omae Y, Ozono K, Tokunaga K, Hamajima T.
    A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant.
    Clin Pediatr Endocrinol. 2023;32(3):161-167.
  1484. Chen CP, Wu FT, Chern SR, Wu PS, Pan YT, Lee CC, Pan CW, Wang W.
    Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decrease of the aneuploid cell line, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, intrauterine growth restriction and a favorable fetal outcome.
    Taiwan J Obstet Gynecol. 2023 Jul;62(4):571-576.
  1485. Chen CP, Wu FT, Pan YT, Chern SR, Wu PS, Chiu CL, Lee CC, Chen WL, Wang W.
    Prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy 18 by amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues and a favorable fetal outcome.
    Taiwan J Obstet Gynecol. 2023 Jul;62(4):606-610.
  1486. Ngo C, Baluyot M, Bennetts B, Carmichael J, Clark A, Darmanian A, Gayagay T, Jones L, Nash B, Clark M, Jose N, Robinson S, St Heaps L, Wright D.
    SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory.
    Pathology. 2023 Oct;55(6):818-826.
  1487. Feng L, Ma Y, Xu Y.
    A case of maternal uniparental disomy of chromosome 6 with intrauterine growth restriction.
    Altern Ther Health Med. 2023 Oct;29(7):447-449.
  1488. Jain R, Rabea F, Alfalasi R, Elabiary MW, Abou Tayoun A.
    Paternal uniparental isodisomy of chromosome 2 in a patient with congenital hypothyroidism: Ruling out recessive inheritance or a kinship/laboratory sequencing error.
    J Appl Lab Med. 2023 Sep 7;8(5):993-999.
  1489. Shimojima Yamamoto K, Yoshimura A, Yamamoto T.
    Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.
    Hum Genome Var. 2023 Aug 7;10(1):22.
  1490. Tan X, Liu B, Yan T, Wei X, Qin Y, Zeng D, Yuan D.
    Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction.
    Mol Cytogenet. 2023 Aug 23;16(1):20.
  1491. Moutafi M, Gkiourtzis N, Ververi A, Kavga M, Morichovitou A, Papadopoulou-Legbelou K, Fotoulaki M, Panagopoulou P.
    Beckwith-Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations.
    Am J Med Genet A. 2024 Jan;194(1):88-93.
  1492. Pignata L, Cecere F, Acquaviva F, D'Angelo E, Cioffi D, Pellino V, Palumbo O, Palumbo P, Carella M, Sparago A, De Brasi D, Cerrato F, Riccio A.
    Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
    Front Cell Dev Biol. 2023 Aug 10;11:1237629.
  1493. Semikhodskii A, Makarova T, Sutyagina D.
    Maternal uniparental disomy of chromosome 21 as a cause of pseudo-exclusion from paternity.
    Mol Genet Genomics. 2023 Nov;298(6):1389-1394.
  1494. Tüysüz B, Kasap B, Uludağ Alkaya D, Alp Ünkar Z, Köseoğlu P, Geyik F, Özer E, Önal H, Gezdirici A, Ercan O.
    Investigation of (Epi)genetic causes in syndromic short children born small for gestational age.
    Eur J Med Genet. 2023 Nov;66(11):104854.
  1495. Alhendi ASN, Gazdagh G, Lim D, McMullan D, Wright M, Temple IK, Davies JH, Mackay DJG.
    A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.
    Am J Med Genet A.  2024 Feb;194(2):383-388.
  1496. Chen Q, Chen Y, Shi L, Tao Y, Li X, Zhu X, Yang Y, Xu W.
    Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes.
    Front Genet. 2023 Oct 4;14:1232059.
  1497. Wen Y, He T, Chen M.
    [Clinical and genetic analysis of a child with maternal uniparental disomy of chromosome 20].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Nov 10;40(11):1420-1424. Chinese.
  1498. Bu X, Li X, Peng C, Li H, Zhou S, Zhu Z, He J, Linpeng S.
    Case report: Paternal uniparental disomy on chromosome 7 and homozygous SUGCT mutation in a fetus with overweight after birth.
    Front Genet. 2023 Oct 17;14:1272028.
  1499. Shpiner DS, Peabody TK, Luca CC, Jagid J, Moore H.
    Deep brain stimulation for an unusual presentation of myoclonus dystonia associated with Russell-Silver syndrome.
    Tremor Other Hyperkinet Mov (N Y). 2023 Oct 30;13:40.
  1500. Zhang S, Wu L, Li X, Yang L, Shen S, Shen H, Zhao D, Qi L.
    Clinical significance of application of chromosomal karyotyping of villus tissues.
    Int J Womens Health. 2023 Nov 7;15:1705-1710.
  1501. Liu Y, Sheng W, Hou S, Hou M, Zhang Y, Wang X, Zhang S, Zhou F, Cai C, Wang W.
    Functional characterization of a novel SLC4A4 variant and uniparental isodisomy in proximal renal tubular acidosis patient.
    Biochem Genet. 2024 Aug;62(4):2469-2481.
  1502. Chen CP, Hsu TY, Chern SR, Wu PS, Chen SW, Wang LK, Wu FT, Pan YT, Lee CC, Chen YY, Wang W.
    Mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy 21 and postnatal decrease of the trisomy 21 cell line.
    Taiwan J Obstet Gynecol. 2023 Jan;62(1):137-141.
  1503. Butler MG, Hossain WA, Cowen N, Bhatnagar A.
    Chromosomal microarray study in Prader-Willi syndrome.
    Int J Mol Sci. 2023 Jan 7;24(2):1220.
  1504. Kunta AR, Jueng J, Jordan C, Kojic J, Mo A, Ebrahimi-Fakhari D.
    Blended phenotype of Prader-Willi syndrome and HSP-SPG11 caused by maternal uniparental isodisomy.
    Neurol Genet. 2022 Nov 23;8(6):e200041.
  1505. López-Garrido MP, Carrascosa-Romero MC, Montero-Hernández M, Serrano-Martínez CM, Sánchez-Sánchez F.
    Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications.
    Front Genet. 2022 Nov 18;13:1005573.
  1506. Gorukmez O, Özgür T, Gorukmez O, Topak A.
    ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.
    Fetal Pediatr Pathol. 2023 Dec;42(6):891-900.
  1507. Ghaoui R, Curtis S, Kassahn KS.
    Segmental uniparental isodisomy causing an "inside-to-outside" limb-girdle muscular dystrophy due to a homozygous mutation in POGLUT1.
    JAMA Neurol. 2023 Aug 1;80(8):868-869.
  1508. Liu C, Lyu Y, Jiang Y, Qi Q, Zhou X, Hao N, Li M, Gai M.
    [Study of a fetus with confined placental mosaicism for trisomy 2 in conjunct with fetal uniparental disomy and a literature review].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1461-1465. Chinese.
  1509. Song T, Xu Y, Li Y, Zheng J, Guo F, Jin X, Li J, Zhang J, Yang H.
    Clinical experience of prenatal chromosomal microarray analysis in 6159 ultrasonically abnormal fetuses.
    Reprod Sci. 2024 Apr;31(4):1089-1107.
  1510. Stepanova A, Ogorodova N, Kadyshev V, Shchagina O, Kutsev S, Polyakov A.
    A molecular genetic analysis of RPE65-associated forms of inherited retinal degenerations in the Russian Federation.
    Genes (Basel). 2023 Nov 9;14(11):2056.
  1511. Chen X, Jiang Y, Zeng S, Zhuang J, Lin N.
    Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second-trimester using chromosomal microarray analysis.
    Birth Defects Res. 2024 May;116(5):e2351.
  1512. Jiang X, Liang B, Chen B, Wu X, Wang Y, Lin N, Huang H, Xu L.
    Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.
    Chromosome Res. 2024 Jul 19;32(3):9.
  1513. Pellé O, Moreno S, Lorenz MR, Riller Q, Fuehrer M, Stolzenberg MC, Maccari ME, Lenoir C, Cheminant M, Hinze T, Hebart HF, König C, Schvartz A, Schmitt Y, Vinit A, Henry E, Touzart A, Villarese P, Isnard P, Neveux N, Landman-Parker J, Picard C, Fouyssac F, Neven B, Grimbacher B, Speckmann C, Fischer A, Latour S, Schwarz K, Ehl S, Rieux-Laucat F, Rensing-Ehl A, Magérus A.
    Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
    J Allergy Clin Immunol. 2024 Jan;153(1):203-215.
  1514. Bindels-de Heus KGCB, Hagenaar DA, Mous SE, Dekker I, van der Kaay DCM, Kerkhof GF, Elgersma Y, Moll HA, de Wit MY.
    Bone health in children with Angelman syndrome at the ENCORE Expertise Center.
    Eur J Pediatr. 2024 Jan;183(1):103-111.
  1515. Qin S, Wang X, Wang J, Xi N, Yan M, He Y, Ye M, Zhang Z, Yin Y.
    Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses.
    Mol Cytogenet. 2023 Dec 6;16(1):35.
  1516. Lin XM, Zhen L, Wen YJ, Yu QX, Li DZ.
    Isolated polyhydramnios: Is a genetic evaluation of value?
    Eur J Obstet Gynecol Reprod Biol. 2024 Feb;293:115-118.
  1517. Ma D, Lin Y, Zhang R, Wang S, Hu W, Ye M, Gao H, Wang L, Song Y, Guo H.
    Effect of uniparental disomy in parentage testing.
    Leg Med (Tokyo). 2024 Mar;67:102381.
  1518. Lin HY, Lee CL, Tu YR, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Tsai MC, Chao MC, Tsai LP, Yang CF, Su PH, Pan YW, Lee CH, Chu TH, Chuang CK, Lin SP.
    Quantitative DNA methylation analysis and epigenotype-phenotype correlations in Taiwanese patients with Silver-Russell syndrome.
    Int J Med Sci. 2024 Jan 1;21(1):8-18.
  1519. McNamara RC, Zven S, Horvat DE, Veras JE, Schacht JP.
    "Hole" exome sequences: The importance of phenotyping to fill the gaps in whole exome sequencing.
    Pediatr Neurol. 2024 Mar;152:1-3.
  1520. Li M, Hao N, Jiang Y, Xue H, Dai Y, Wang M, Bai J, Lv Y, Qi Q, Zhou X.
    Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting.
    Sci Rep. 2024 Jan 2;14(1):238.
  1521. Jiang Y, Xiao YX, Xiong JJ, Zhang VW, Dong C, Xu L, Liu F.
    Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.
    Mol Cytogenet. 2024 Jan 3;17(1):1.
  1522. Moch J, Radtke M, Gburek-Augustat J, Karnstedt M, Schönnagel S, Drukewitz SH, Pilgram L, Hentschel J, Schumann I.
    Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis.
    Front Genet. 2023 Dec 21;14:1297754.
  1523. Hu LQ, Deng Z, Li SN, Huang WY, Li L, Xiao GF, Xiao QZ.
    A fetus with maternal uniparental disomy on chromosome 20: Case report with genetic analysis and prenatal diagnosis.
    Clin Lab. 2024 Jan 1;70(1). doi: 10.7754/Clin.Lab.2023.230647.
  1524. Zhang M, Liang Y, Li H, Xu F.
    Use of the MS-MLPA assay in prenatal diagnosis of Prader-Willi syndrome with mosaic trisomy 15.
    Taiwan J Obstet Gynecol. 2024 Jan;63(1):81-84.
  1525. Soares MP, Travessa AM, Custódio S, Pereira C, Pinto P, Sousa AB.
    Uniparental disomy as a mechanism for combined oxidative phosphorylation deficiency associated with MRPS34 gene.
    Endocr Metab Immune Disord Drug Targets. 2024 Jan 12. doi: 10.2174/0118715303283767231120113921. Epub ahead of print. PMID: 38243972.
  1526. Mao S, Yang L, Gao Y, Zou C.
    Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China.
    Clin Genet. 2024 Apr;105(4):415-422.
  1527. Choi N, Kim HY, Ko JM.
    Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome.
    Clin Genet. 2024 May;105(5):533-542.
  1528. Xue H, Yu A, Zhang L, Chen L, Guo Q, Lin M, Lin N, Chen X, Xu L, Huang H.
    Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing.
    Sci Rep. 2024 Jan 25;14(1):2190.
  1529. Xu C, Li M, Gu T, Xie F, Zhang Y, Wang D, Peng J.
    Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study.
    Mol Cytogenet. 2024 Jan 30;17(1):3.
  1530. Larsen AR, Brusgaard K, Christesen HT, Detlefsen S.
    Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.
    Histol Histopathol. 2024 Jul;39(7):817-844.
  1531. Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W.
    Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
    Orphanet J Rare Dis. 2024 Feb 16;19(1):75.
  1532. Marom D, Mory A, Reytan-Miron S, Amir Y, Kurolap A, Cohen JG, Morhi Y, Smolkin T, Cohen L, Zangen S, Shalata A, Riskin A, Peleg A, Lavie-Nevo K, Mandel D, Chervinsky E, Fisch CF, Fleisher Sheffer V, Falik-Zaccai TC, Rips J, Shlomai NO, Friedman SE, Shporen CH, Ben-Yehoshua SJ, Simmonds A, Yaacobi RG, Bauer-Rusek S, Omari H, Weiss K, Hochwald O, Koifman A, Globus O, Batzir NA, Yaron N, Segel R, Morag I, Reish O, Eliyahu A, Leibovitch L, Schwartz ME, Abramsky R, Hochberg A, Oron A, Banne E, Portnov I, Samra NN, Singer A, Baris Feldman H.
    National rapid genome sequencing in neonatal intensive care.
    JAMA Netw Open. 2024 Feb 5;7(2):e240146.
  1533. Nishino M, Tanaka M, Imagawa K, Yaita K, Enokizono T, Ohto T, Suzuki H, Yamada M, Takenouchi T, Kosaki K, Takada H.
    Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
    Am J Med Genet A. 2024 Jul;194(7):e63575.
  1534. Kelkar J, DiMaio M, Ma D, Zhang H.
    Maternal uniparental isodisomy of chromosome 2 leading to homozygous variants in SPR and ZNF142 : A case report and review of the UPD2 literature.
    Glob Med Genet. 2024 Mar 26;11(1):100-112.
  1535. Quintana A, Garabedian MJ, Wallerstein RJ.
    Antenatal detection of maternal unipartental disomy of chromosome 2 in a fetus with non-chromosomal, non-syndromic alobar holoprosencephaly.
    Am J Med Genet A. 2014 Jan;164A(1):276-8.
  1536. Meijer IA, Sasarman F, Maftei C, Rossignol E, Vanasse M, Major P, Mitchell GA, Brunel-Guitton C.
    LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.
    Mol Genet Metab Rep. 2015 Nov 8;5:85-88. 
  1537. Shyla A, Borovko S, Luhauniou A, Aranovich S, Zayerkal Y.
    Two loci 'exclusion' of true paternity is due to genetic disorder in a child.
    Forensic Sci Int Genet Suppl Ser. 2019;7(01):3–4.
  1538. Panasiti I, Briuglia S, Costa S, Caminiti L.
    Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child.
    BMJ Case Rep. 2019 Oct 18;12(10):e230152. 
  1539. Johansen M, Haskell GT, Arreola A, Riordan C, Gadi IK, Penton A, Papenhausen PR, Schwartz S.
    Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes.
    Prenat Diagn. 2024 May;44(5):586-594.
  1540. Liu M, Li D, Li Y, Mei D, Dong S, Wang Y, Hu W, Gao C.
    [Clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Apr 10;41(4):437-442. Chinese.
  1541. Liu W, Li J, Zhu X, Gu L, Chen Y.
    [Genetic origin analysis of regions of homozygosity in three cases].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Apr 10;41(4):494-499. Chinese.
  1542. Wu CY, Zhou Y, Yin X, Peng R, Xie HN.
    Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study.
    BMC Pregnancy Childbirth. 2024 Apr 18;24(1):288.
  1543. Zhang J, Liu Y, Zhao C.
    SNCA-related Parkinson's disease caused by complete chromosome 4 paternal uniparental disomy.
    Mov Disord. 2024 Aug;39(8):1426-1428.
  1544. Smith CS, Riddell M, Badalato L, Au PYB.
    Adults with paternal UPD14 causing Kagami-Ogata syndrome: Case report and review of the literature.
    Am J Med Genet A. 2024 Sep;194(9):e63625.
  1545. Janssen EJM, Burgers M, Kerkhof GF, Klaassens M, Sinnema M, Geelen JM.
    Het Prader-Willi-syndroom [The importance of early recognition of Prader-Willi syndrome].
    Ned Tijdschr Geneeskd. 2024 May 8;168:D7730. Dutch.
  1546. Iwanishi M, Yorifuji T, Yamamoto Y, Ito-Kobayashi J, Shimatsu A, Kikugawa S, Kagami M.
    A male Japanese patient with Temple syndrome complicated by type 2 diabetes mellitus.
    Intern Med. 2024 May 16. doi: 10.2169/internalmedicine.2743-23. Epub ahead of print. PMID: 38749734.
  1547. Ren H, Liu Z, Chen C, Shi Y, Zhang J, Chen Y, Jia L, Liu Y, Yan J.
    Case reports on uniparental disomy of chromosomes 6 and 3 in paternity testing.
    Forensic Sci Res. 2024 Apr 11;9(2):owae027.
  1548. Ma Y, Wang J, Wen T, Xu Y, Huang L, Mai Q, Xu Y.
    An incidental detection of a rare UPD in SNP-array based PGT-SR: A case report.
    Reprod Sci. 2024 Sep;31(9):2893-2899. 
  1549. Yu L, Zhang Y, Li W, Mao J, Li Y, Wang H, Li C, Yang L, He W, Jia Y, Tang W, Zhou L, Zhang Z, Jia Y, Tang X, Zhao X, An Y.
    Fluoxetine successfully treats intracranial enterovirus E18 infection in a patient with CD79a deficiency arising from segmental uniparental disomy of chromosome 19.
    J Clin Immunol. 2024 May 28;44(6):137.
  1550. Cyto And Genomics Group Of Medical Genetics Branch Of Chinese Medical Association, Liu N, Shi P, Liu L, Kong X.
    [Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Jun 10;41(6):685-695. Chinese.
  1551. Xu Z, Liu N, Gao L, Yu D.
    Application of chromosomal microarray analysis in genetic reasons of miscarriage tissues.
    Appl Clin Genet. 2024 May 31;17:85-93.
  1552. Schmok T, Surampalli A, Khare M, Zandihaghighi S, Baghbaninogourani R, Patolia B, Gold JA, Naidu A, Cassidy SB, Kimonis VE.
    Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader-Willi syndrome.
    Am J Med Genet A. 2024 Oct;194(10):e63724.
  1553. Sadhwani A, Powers S, Wheeler A, Miller H, Potter SN, Peters SU, Bacino CA, Skinner SA, Wink LK, Erickson CA, Bird LM, Tan WH.
    Developmental milestones and daily living skills in individuals with Angelman syndrome.
    J Neurodev Disord. 2024 Jun 15;16(1):32.
  1554. Cintra HA, Rocha DN, da Costa ACC, Tyszler LS, Freitas S, de Araujo LA, Crozoe LI, de Paula LR, Correia PS, Gomes LHF, da Cunha Guida L.
    Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.
    Orphanet J Rare Dis. 2024 Jun 20;19(1):240.
  1555. Kovaleva NV, Cotter PD.
    Mosaicism for autosomal trisomies: A comprehensive analysis of 1266 published cases focusing on maternal age and reproductive history.
    Genes (Basel). 2024 Jun 13;15(6):778.
  1556. Weise A, Bhatt S, Piaszinski K, Kosyakova N, Fan X, Altendorf-Hofmann A, Tanomtong A, Chaveerach A, de Cioffi MB, de Oliveira E, Walther JU, Liehr T, Chaudhuri JP.
    Chromosomes in a genome-wise order: evidence for metaphase architecture.
    Mol Cytogenet. 2016 Apr 27;9:36.
  1557. Torun D, Akin O.
    Genotype-phenotype characteristics of 57 patients with Prader-Willi syndrome: a single-center experience from Turkey.
    Clin Dysmorphol. 2024 Oct 1;33(4):145-151. 
  1558. Mukai T, Kato S, Tanaka H, Kuroda Y, Kitaoka H, Ito A, Shitara Y, Kashima K, Takami H, Takahashi N, Kato M.
    A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.
    Mol Genet Genomic Med. 2024 Jul;12(7):e2452.
  1559. Moch J, Radtke M, Liehr T, Eggermann T, Gilissen C, Pfundt R, Astuti G, Hentschel J, Schumann I.
    Automatized detection of uniparental disomies in a large cohort.
    Hum Genet. 2024 Aug;143(8):955-964.
  1560. Radtke M, Moch J, Hentschel J, Schumann I.
    altAFplotter: a web app for reliable UPD detection in NGS diagnostics.
    BMC Bioinformatics. 2024 Sep 12;25(1):299.
  1561. Cuk M, Unal B, Bevanda A, Hayes CP, Walker M, Abraamyan F, Beluzic R, Gornik KC, Ozretic D, Prutki M, Nie Q, Reddi HV, Ghazani AA.
    Diagnosis of two unrelated syndromes of Prader-Willi and calpainopathy: Insight from trio whole genome analysis and isodisomy mapping.
    Genes (Basel). 2024 Jul 19;15(7):946.
  1562. Li JW, Qian YJ, Mao SJ, Chao YQ, Qin YF, Hu CX, Li ZL, Zou CC.
    Clinical features associated with maternal uniparental disomy for chromosome 6.
    Mol Cytogenet. 2024 Jul 29;17(1):18.
  1563. Yan L, Ding S, He Y, Fu B, Chen C, Li H.
    Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I.
    Mol Genet Genomic Med. 2024 Aug;12(8):e2507.
  1564. Zhang P, Ying W, Wu B, Liu R, Wang H, Wang X, Lu Y.
    Complete IFN-γR1 deficiency in a boy due to UPD(6)mat with IFNGR1 novel splicing variant.
    J Clin Immunol. 2021 May;41(4):834-836.
  1565. Fujimoto M, Nakamura Y, Hosoki K, Iwaki T, Sato E, Ieda D, Hori I, Negishi Y, Hattori A, Shiraishi H, Saitoh S.
    Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.
    HGG Adv. 2024 Oct 10;5(4):100342.
  1566. Fujimoto M, Nakamura Y, Iwaki T, Sato E, Ieda D, Hattori A, Shiraki A, Mizuno S, Saitoh S.
    Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.
    J Hum Genet. 2023 Feb;68(2):87-90.
  1567. Suleja A, Milska-Musa K, Przysło Ł, Bednarczyk M, Kostecki M, Cysewski D, Matryba P, Rozensztrauch A, Dwornik M, Opacki M, Śmigiel R, Łukasiewicz K.
    Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study.
    Orphanet J Rare Dis. 2024 Aug 22;19(1):306.
  1568. Sasidharan Pillai S, Reyes M, Jüppner H, Topor LS.
    Growth hormone deficiency in an adolescent with pseudohypoparathyroidism type 1B.
    JCEM Case Rep. 2024 Aug 27;2(9):luae152.
  1569. Kugalingam N, Silva D, Rathnayake P, Atapattu N, Ranaweera DM, Chandrasekharan NV.
    Evaluation of an in-house genetic testing method for confirming Prader-Willi and Angelman syndromes in Sri Lanka.
    Clin Lab. 2024 Aug 1;70(8).
  1570. Wang Y, Liu M, Gao Z, Hua C, Jiang J, Zheng Y, Dong Z, Cao Y, Choy KW, Zhu X, Kong X.
    Detection of genomic variants by genome sequencing in foetuses with central nervous system abnormalities.
    Ann Med. 2024 Dec;56(1):2399317.
  1571. Wang G, Xie H, Zhang J, Huang P, Liang M, Zhu D, Zhang Q, Zhou Y, Shang X.
    Hb H disease caused by uniparental disomy: First report of the αT-Saudiα mutation in the Chinese population.
    Mediterr J Hematol Infect Dis. 2024 Sep 1;16(1):e2024069.
  1572. De Silva Y, Birt S.
    The complexities of managing a newborn with 6q24 transient neonatal diabetes mellitus: a case report.
    J Pediatr Endocrinol Metab. 2024 Sep 17;37(11):995-998.
  1573. Ak B, Parıltay E, Gümüşburun R, Dalgıç CT, Aykut A, Durmaz A, Akın H, Ardeniz Ö, Lo B.
    Uniparental disomy of chromosome 4: A case of whole chromosome UPD presenting with LRBA deficiency.
    J Clin Immunol. 2024 Sep 18;45(1):10.
  1574. Perosanz A, López-Paz JF, Amayra I, García M, Martínez O.
    Comparative study of emotional facial expression recognition among Prader-Willi syndrome subtypes.
    J Intellect Disabil Res. 2025 Jan;69(1):44-54.
  1575. Narusawa H, Ogawa T, Yagasaki H, Nagasaki K, Urakawa T, Saito T, Soneda S, Kinjo S, Sano S, Mamada M, Terashita S, Dateki S, Narumi S, Naiki Y, Horikawa R, Ogata T, Fukami M, Kagami M.
    Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients.
    J Clin Endocrinol Metab. 2024 Sep 26:dgae666.
  1576. Amélie BS, Julien T, Kevin Y, Marie-Emmanuelle N, Jean-Marc C, Fanny DT, Marjolaine W, Klaus D, Véronique S, Charles C, Pauline LT.
    Exome sequencing detects uniparental disomy of chromosome 4 revealing a LARP7 pathogenic variant responsible for Alazami syndrome: A Case Report.
    Am J Med Genet A. 2024 Oct 17:e63891.
  1577. Benn P, Merrion K.
    Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing.
    Eur J Hum Genet. 2024 Sep 28. doi: 10.1038/s41431-024-01693-w. Epub ahead of print. PMID: 39341985.
  1578. Ma D, Ye M, Hu W, Gao H, Wang L, Song Y, Nie R, Hu Z, Guo H.
    Large regions of homozygosity in prenatal diagnosis.
    Am J Med Genet A. 2024 Oct;194(10):e63712.
  1579. Sun H, Zhang G, Li N, Bu X.
    Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing.
    Front Genet. 2024 Oct 2;15:1399186.
  1580. Yadav S, Madhumita RC, Gupta N, Chauhan S, Kusmakar S, Balakrishnan P, Jana M, Puri RD, Phadke SR, Kabra M.
    Isolated lateralized overgrowth - phenotypic spectrum and molecular alterations.
    Indian J Pediatr. 2024 Oct 19. doi: 10.1007/s12098-024-05273-0. Epub ahead of print. PMID: 39425824.
  1581. Ozaki K, Yatsuka Y, Oyazato Y, Nishiyama A, Nitta KR, Kishita Y, Fushimi T, Shimura M, Noma S, Sugiyama Y, Tagami M, Fukunaga M, Kinoshita H, Hirata T, Suda W, Murakawa Y, Carninci P, Ohtake A, Murayama K, Okazaki Y.
    Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.
    NPJ Genom Med. 2024 Oct 25;9(1):48.
  1582. Cheng P, Wang G, Song Y, An Y.
    Novel association of LBX1 mutation with tetralogy of Fallot and hypertrophic cardiomyopathy: implications for cardiac development.
    Sci Rep. 2024 Oct 30;14(1):26179.
  1583. Li YL, Zhen L, Lin XM, Qin JC, Li DZ.
    Prenatal genetic investigation in pregnancies with oligohydramnios: Results from a single referral medical center.
    Taiwan J Obstet Gynecol. 2024 Nov;63(6):836-840.
  1584. Larsen IG, Moses RG, Seifert BA, Liu S, Li S, Oler AJ, Levitis E, Schaffer L, Duncan R, Jodarski C, Kamen M, Yan J, Lalonde FM, Ghosh R, Torres E, Clasen LS, Blumenthal J, Similuk M, Raznahan A, Walkiewicz MA.
    Deep screening for X chromosome parent-of-origin effects on neurobehavioral and neuroanatomical phenotypes in 47,XXY Klinefelter syndrome.
    Biol Psychiatry Glob Open Sci. 2024 Sep 4;4(6):100391.
  1585. Xue H, Yu A, Zhao W, Chen L, Fang R, Ling W, Zhang L, Guo Q, Lin N, Xu L, Huang H.
    Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.
    Sci Rep. 2024 Nov 9;14(1):27371.
  1586. Braga BL, da Cunha Scalco R, Homma TK, Freire BL, Cellin LP, Canton APM, Lerario AM, de Assis Funari MF, de Souza V, Bertola DR, Malaquias AC, Mendonca BB, de Lima Jorge AA.
    Rare causes and differential diagnosis in patients with Silver-Russell syndrome.
    Clin Genet. 2024 Nov 25. doi: 10.1111/cge.14659. Epub ahead of print. PMID: 39586716.
  1587. Yamoto K, Yamada K, Shimizu K, Miyamoto S, Nakashima M, Saitsu H.
    Homozygous microdeletion involving Exon 1 of ERCC8 and NDUFAF2 with uniparental isodisomy of chromosome 5.
    Mol Genet Genomic Med. 2024 Dec;12(12):e70037.
  1588. Faienza MF, Chiarito M, Aureli A, Buganza R, Corica D, Delvecchio M, De Sanctis L, Fintini D, Grugni G, Licenziati MR, Madeo S, Mozzillo E, Rutigliano I, Valerio G.
    Lack of correlation between asprosin serum levels and hyperphagic behavior in subjects with Prader-Willi Syndrome.
    J Endocrinol Invest. 2024 Dec 5. doi: 10.1007/s40618-024-02511-2. Epub ahead of print. PMID: 39636471.
  1589. Olsen T, Ek J, Bak M, Grønskov K, Bache I, Farholt S, Tümer Z.
    Concomitant upd(14)mat and trisomy 14 mosaicism in a newborn detected by whole genome sequencing.
    Clin Genet. 2024 Dec 12. doi: 10.1111/cge.14676. Epub ahead of print. PMID: 39667803.
  1590. Braun S, Laemmer C, Schulte S, Gohlke B.
    Retrospective longitudinal study on the long-term impact of COVID-19 infection on polysomnographic evaluation in patients with Prader-Willi syndrome.
    Orphanet J Rare Dis. 2024 Dec 13;19(1):461.
  1591. Akbari V, Dada S, Shen Y, Dixon K, Hejla D, Galbraith A, Choufani S, Weksberg R, Boerkoel CF, Stewart L, Gibson WT, Jones SJM.
    Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes.
    J Med Genet. 2024 Nov 13:jmg-2024-110115. doi: 10.1136/jmg-2024-110115. Epub ahead of print. PMID: 39537351.
  1592. Sperelakis-Beedham B, Gitiaux C, Rajaoba M, Magen M, Derive N, Chansard J, de Sainte Agathe JM, Maurin ML, Assouline Z, Barnerias C, Desguerre I, Steffann J, Barcia G.
    Uniparental isodisomy: a case study on a new mechanism of Friedreich ataxia.
    Eur J Hum Genet. 2024 Nov 4. doi: 10.1038/s41431-024-01728-2. Epub ahead of print. PMID: 39496895.
  1593. Gabaldón-Albero A, Smeyers P, Hernández-Muela S, Roselló M, Orellana C, Monfort S, Oltra S, Martínez F.
    Triplication of the PCDH19 gene as a novel disease mechanism leading to epileptic encephalopathy resembling loss-of-function pathogenic variants.
    Genes (Basel). 2024 Oct 12;15(10):1312.
  1594. Romeo DJ, George AM, Sussman JH, Banala M, Wiemken A, Wu M, Ng JJ, Taylor JA, Schwab RJ, Cielo CM, Kalish JM.
    Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach.
    Orphanet J Rare Dis. 2024 Oct 17;19(1):384.
  1595. De Ritis D, Ferrè L, De Winter J, Tremblay-Desbiens C, Blais M, Bassi MT, Dupré N, Baets J, Filippi M, Maltecca F.
    Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.
    Brain Commun. 2024 Jul 18;6(4):fcae243.
  1596. Klejnotowska AE, Higgins M, Shah SP.
    Novel LOXL3-associated stickler syndrome-like phenotype: a case report.
    Ophthalmic Genet. 2024 Oct;45(5):476-480.
  1597. Sadamitsu K, Yanagi K, Hasegawa Y, Murakami Y, Low SE, Ooshima D, Matsubara Y, Okamoto N, Kaname T, Hirata H.
    A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures.
    J Hum Genet. 2024 Nov;69(11):553-563.
  1598. Zhou H, Zhou J, Xu S, Yang G, Wu K.
    Lessons from two patients with Prader-Willi syndrome attributed to heterodisomy and isodisomy.
    Pediatr Neonatol. 2024 Sep;65(5):519-520.
  1599. Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N.
    The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos.
    F S Rep. 2024 Jan 11;5(1):63-71.
  1600. Wagner CS, Pontell ME, Salinero LK, Barrero CE, Drust WA, Demarchis M, Liao EC, Kalish JM, Taylor JA.
    (Epi)genotype and timing of tongue reduction predict safety and long-term outcomes in Beckwith-Wiedemann syndrome.
    Plast Reconstr Surg. 2024 Dec 1;154(6):1269-1277.
  1601. Van Den Bogaert K, Lannoo L, Brison N, Gatinois V, Baetens M, Blaumeiser B, Boemer F, Bourlard L, Bours V, De Leener A, De Rademaeker M, Désir J, Dheedene A, Duquenne A, Fieremans N, Fieuw A, Gatot JS, Grisart B, Janssens K, Janssens S, Lederer D, Marichal A, Menten B, Meunier C, Palmeira L, Pichon B, Sammels E, Smits G, Sznajer Y, Vantroys E, Devriendt K, Vermeesch JR.
    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
    Genet Med. 2021 Jun;23(6):1137-1142.
  1602. Lall AE, Brener S, Eller DP.
    Fetus conceived via in vitro fertilization with mosaic uniparental isodisomy and two balanced translocations.
    Cureus. 2024 Jun 10;16(6):e62095. 
  1603. Huo X, Lu X, Lu D, Liu H, Liu Y, Zhao Q, Sun Y, Dai W, Qiu W, Yu Y, Fan Y.
    Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?
    Clin Chem Lab Med. 2024 Jul 19;63(1):87-96.
  1604. Arreola A, Haskell G, Gadi I, Penton A, Schwartz S.
    Utilization of a SNP microarray to detect uniparental disomy: Implications and outcomes.
    Genet Med. 2024 Dec;26(12):101275.
  1605. Urakawa T, Soejima H, Yamoto K, Hara-Isono K, Nakamura A, Kawashima S, Narusawa H, Kosaki R, Nishimura Y, Yamazawa K, Hattori T, Muramatsu Y, Inoue T, Matsubara K, Fukami M, Saitoh S, Ogata T, Kagami M.
    Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.
    Clin Epigenetics. 2024 Oct 5;16(1):138.