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 unpublished data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.
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     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.
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    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. 
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    Shorter telomeres correlate with an increase in the number of uniparental disomies in patients with chronic lymphocytic leukemia.
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     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
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     Identification of novel genetic causes of Rett syndrome-like phenotypes.
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  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.
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    Sexual dichotomy of gonadal function in Prader-Willi syndrome from early infancy through the fourth decade.
    Hum Reprod. 2015 Nov;30(11):2587-2596.
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    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.
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    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.
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  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.
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    Silver-Russell Syndrome - Part I: Clinical characteristics and genetic background.
     Pediatr Endocrinol Diabetes Metab. 2015;20(3):101-106.
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    Gender differences in the behavioral symptom severity of Prader-Willi syndrome.
    Behav Neurol. 2015;2015:294127.
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  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.
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  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.
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  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.
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  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.
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     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.
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    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.
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    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.
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  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.
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  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.
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  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.
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    Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.
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  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.
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    Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population.
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  970. Luk HM, Yeung KS, Wong WL, Chung BH, Tong TM, Lo IF.
    Silver-Russell syndrome in Hong Kong.
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     6q24 transient neonatal diabetes - How to manage while waiting for genetic results.
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  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.
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  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.
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  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.
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  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.
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  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.
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  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.
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