ChromosOmics - Database

                                                             - own REFERENCES -                                                         

      0. Liehr et al. unpublished data
  1. A Heller, J Seidel, A Hübler, H Starke, V Beensen, G Senger, M Rocchi, J Wirth, I Chudoba, U Claussen, T Liehr.
    Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review.

    J Med Genet 2000, 37:529-532.
  2. H Starke, G Senger, M Kossakiewicz, H Tittelbach, D Rau, N Rubtsov, V Trifonov, A Heller, I Hartmann, U Claussen, T Liehr.
    Maternal insertion of 18q11.2-q12.2 in 18p11.3 of the same chromosome analysed by microdissection and multicolour banding (MCB).
    Prenat Diag 2001, 21:1049-1052.
  3. T Liehr, M Schmidt, H Starke, M Ziegler, G Kittner, A Heller, N Rubtsov, V Trifonov, U Claussen.
    First case of trisomy 13 plus mosaic trisomy 1q.
    Fetal Diag Ther 2002, 17:133-136.
  4. T Liehr, U Claussen.
    Review: Multicolor-FISH approaches for the characterization of human chromosomes in clinical genetics and tumor cytogenetics. 

    Current Genomics 2002, 3:213-235.
  5. T Liehr, U Claussen.
    Current developments in human molecular cytogenetic techniques.
    Curr Mol Med 2002, 2:283-297.
  6. T Liehr, A Heller, H Starke, U Claussen.
    FISH banding methods: applications in research and diagnostics.
    Expert Review Mol Diagn 2002, 2:217-225.
  7. A Weise, H Starke, A Heller, H Tönnies, M Volleth, M Stumm, G Senger, A Nietzel, U Claussen, T Liehr.
    Chromosome 2 aberrations in clinical cases characterized by high resolution multicolor banding (MCB) and region specific FISH probes.
    J Med Genet 2002, 39:434-439.
  8. R Trappe, D Böhm, J Kohlhase, A Weise, T Liehr, G Essers, M Meins, B Zoll, I Bartels, P Burfeind.
    A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis.
    Cytogenet Genome Res 2002, 98:1-8.
  9. V Trifonov, J Seidel, H Starke, M Prechtel, V Beensen, M Ziegler, I Hartmann, A Heller, A Nietzel, U Claussen, T Liehr.
    Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter.
    Prenat Diagn 2003, 23:427-430.
  10. M Manvelyan, I Schreyer, I Höls-Herpertz, S Köhler, R Niemann, U Hehr, B Belitz, I Bartels, J Götz, D Huhle, M Kossakiewicz, H Tittelbach, S Neubauer, A Polityko, M-L Mazauric, R Wegner, M Stumm, P Küpferling, F Süss, H Kunze, A Weise, T Liehr, K Mrasek.
    48 new cases with infertility due to balanced chromosomal rearrangements  – detailed molecular cytogenetic analysis of the 90 involved breakpoints.
    Int J Mol Med 2007, 19:855-864.
  11. T Liehr, N Kosayakova, J Schröder, M Ziegler, K Kreskowski, B Pohle, S Bhatt, L Theuss, K Wilhelm, A Weise, K Mrasek.
    Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal rearrangements.
    Balk J Med Genet 2011, 14:13-16.
  12. T Liehr, A Heller, KH Eichhorn, V Beensen, E Schulze, H Starke, U Claussen, I Schreyer.
    Inherited cryptic chromosomal aberrations may be more easily detected in their balanced forms: a case report with hidden der(1)t(1;17)(q44;p13.2).
    Prenat Diagn 2004, 24:1022-1024.
  13. J Seidel J, A Heller, G Senger, H Starke, I Chudoba, C Kelbova, H Tonnies, H Neitzel, C Haase, V Beensen, F Zintl, U Claussen, T Liehr.
    A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterized comprehensively by molecular cytogenetics. Case report and review of the literature.
    Eur J Pediatr 2003, 162:582-588.
  14. S Sauter, G von Beust, P Burfeind, A Weise, H Starke, T Liehr, B Zoll.
    Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter -> p12.2)[10].
    Am J Med Genet 2003, 120A:533-536.
  15. H Starke, B Mitulla, V Beensen, V Trifonov, N Rubtsov, A Heller, M Ziegler, A Neumann, U Claussen, T Liehr.
    First postnatal case of mosaic del(22)/r(22).
    Prenat Diagn 2003, 23:765-767.
  16. M Volleth, M Stumm, VM Kalscheuer, K Reschke, T Liehr, P Wieacker.
    Prämature Ovarialinsuffizienz bei einer Patientin mit einem ungewöhnlichen pseudoisodizentrischen X-Chromosom.
    Geburtshilfe Frauenheilkd 2003, 63:1054-1057.
  17. W Zumkeller, M Volleth, P Muschke, H Tönnies, A Heller, T Liehr, P Wieacker, M Stumm.
    Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.
    Am J Med Genet A 2004, 129A:261-264.
  18. A Weise, O Rittinger, H Starke, M Ziegler, U Claussen, T Liehr.
    De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature.
    Cytogenet Genome Res 2003, 103:14-16.
  19. U Grasshoff, S Singer, T Liehr, H Starke, B Fode, M Schoning, A Dufke.
    A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q24-->1q22 and partial monosomy 4q27-->q28.
    Cytogenet Genome Res 2003, 103:17-23.
  20. I Schreyer, A Neumann, V Beensen, K-H Eichhorn, A Heller, U Claussen, T Liehr.
    dup(13)(q14.2-q14.3) - yet another new differential diagnostic aspect for short stature like phenotype.
    J Histochem Cytochem 2005, 53:365-366.
  21. H Starke, K Mrasek, T Liehr.
    3 cases with enlarged acrocentric p-arms – 2 cases with cryptic partial trisomies.
    J Histochem Cytochem 2005, 53:359-360.
  22. M Trimborn, T Liehr, B Belitz, L Pfeiffer, R Varon, H Neitzel, H Tönnies.
    Prenatal diagnosis and molecular cytogenetic characterisation of a complex structural rearrangement in a pregnancy following intracytoplasmic sperm injection (ICSI).
    J Histochem Cytochem 2005, 53:351-354.
  23. A Kuechler, M Ziegler, C Blank, B Rommel, J Bullerdiek, J Ahrens, U Claussen, T Liehr.
    A highly complex chromosomal rearrangement between five chromosomes in a healthy female diagnosed in preparation for ICSI.
    J Histochem Cytochem 2005, 53:355-357.
  24. A Polityko, H Starke, N Rumyantseva, U Claussen, T Liehr, S Raskin.
    Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding.
    Cytogenet Genome Res 2005, 111:171-174.
  25. P Stankiewicz, A Kuechler, CD Eller, T Sahoo, C Baldermann, U Lieser, M Hesse, C Gläser, M Hagemann, SA Yatsenko, T Liehr, B Horsthemke, U Claussen, Y Marahrens, JR Lupski, I Hansmann.
    Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation - do LINE-1 elements facilitate spreading of X inactivation?
    Am J Med Gen 2006, 140A:442-452.
  26. S Balci, Ö Engiz, D Aktaş, I Vargel, MS Beksaç, K Mrasek, T Liehr.
    Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple malformations.
    Am J Med Gen 2006, 140A:628-632.
  27. E Papadopoulou, S Sifakis, C Sarri, J Gyftodimou, T Liehr, K Mrasek, M Kalmanti, MB Petersen.
    A case report of pure 7p duplication syndrome and review of the literature.
    Am J Med Gen A 2006, 140A:2802-2806.
  28. S Balci, A Ünal, D Aktaş, Ö Engiz, T Liehr, M Gross, K Mrasek, S Saygi.
    Bilateral periventricular nodular heterotopia (PNH), severe mental retardation and epilepsy in a male patient with 46,XY,der(19)t(X;19)(q11.1-11.2;p13.3) due to maternal balanced translocation.
    Develop Med Child Neurol 2007, 49:219-224.
  29. L Backx, H Van Esch, C Melotte, N Kosyakova, H Starke, JP Frijns, T Liehr, JR Vermeesch.
    Array painting using microdissected chromosomes to map chromosomal breakpoints.
    Cytogenet Genome Res 2007, 116:158-166.
  30. I Bartels, H Starke, L Argyriou, SM Sauter, B Zoll, T Liehr.
    An exceptional complex chromosomal rearrangement (CCR) with 8 breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype.
    Europ J Med Gen 2007, 50:133-138.
  31. SM Sauter, D Böhm, I Bartels, P Burfeind, FA Laccone, J Neesen, B Wilken, T Liehr, B Zoll.
    Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.
    Am J Med Genet A 2007, 143A:1091-1099.
  32. GE Utine, D Aktas, Y Alanay, S Gücer, E Tuncbilek, K Mrasek, T Liehr.
    Distal partial trisomy 1q: report of two cases and a review of the literature.
    Prenat Diagn 2007, 27:865-871.
  33. S Bhatt, K Moradkhani, K Mrasek, J Puechberty, G Lefort, J Lespinasse, P Sarda, T Liehr, S Hamamah, F Pellestor.
    Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm.
    Mol Hum Reprod 2007, 13:751-756.
  34. I Carreira, A Mascarenhas, E Matoso, A Couceiro, L Ramos, A Dufke, M Mazauric, R Stressig, N Kosyakova, J Melo, T Liehr.
    Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.
    J Histochem Cytochem 2007, 55:1123-1128.
  35. A Koç, D Kan, K Karaer, MA Ergün, K Gücüyener, S Hinreiner, T Liehr, EF Perçin.
    An unexpected finding in a child with neurological problems: Mosaic ring chromosome 18.
    Europ J Pediatrics 2008, 167:655–659.
  36. T Pramparo, M de Gregori, S Gimelli, R Ciccone, D Frondizi, T Liehr, S Pellacani, G Masi, P Brovedani, O Zuffardi, R Guerrini.
    A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.
    Am J Med Genet A. 2008, 146A:1754-1760.
  37. SG Vorsanova, IY Iourov, VY Voinova-Ulas, A Weise, VV Monakhov, AD Kolotii, IV Soloviev, PV Novikov, T Liehr, YB Yurov.
    Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature.
    Mol Cytogenet 2008, 1:13.
  38. E Manolakos, N Kosyakova, L Thomaidis, R Neroutsou, A Weise, M Mihalatos, S Orru, H Kokotas, G Kitsos, T Liehr, MB Petersen.
    Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report.
    Mol Cytogenet 2008, 1:24.
  39. S Bhatt, K Moradkhani, K Mrasek, J Puechberty, M Manvelyan, F Hunstig, G Lefort, A Weise, J Lespinasse, P Sarda, T Liehr, S Hamamah, F Pellestor.
    Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.
    Eur J Hum Genet 2009, 17:44–50.
  40. A Tzschach, C Ramel, A Kron, B Seipel, C Wüster, U Cordes, T Liehr, M Hoeltzenbein, C Menzel, HH Ropers, R Ullmann, V Kalscheuer, J Decker, D Steinberger.
    Hypergonadotropic hypogonadism in a patient with inv ins (2;4).
     Int J Androl 2009; 32:226-230.
  41. D Aktas, A Weise, E Utine, D Alehan, K Mrasek, F von Eggeling, H Thieme, E Tuncbilek, T Liehr.
    Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report.
    Mol Cytogenet 2009; 2:14.
  42. E Ergul, T Liehr, K Mrasek, A Sazci.
    A de novo complex chromosome rearrangement involving three chromosomes (2, 13, and 18) in an oligospermic male.
    Fertil Steril 2009; 92:391.e9-391.e1.
  43. AD Polityko, OM Khurs, AI Kulpanovich, KA Mosse, AV Solntsava, NV Rumyantseva, IV Naumchik, T Liehr, A Weise, H Mkrtchyan. P
    Maternally derived der(7)t(Y;7)(p11.1~11.2;p22.3)dn in a mosaic case with Turner syndrome.
    Europ J Med Gen 2009; 52:207–210.
  44. E Manolakis, A Vetro, S Kitmirides, I Papoulidis, N Kosyakova, K Mrasek, A Weise, E Agapitos, S Orru, P Peitsidis, T Liehr, MB Petersen.
    Prenatal diagnosis, of a fetus with ring chromosome 15 characterized by array-CGH.
    Prenat Diag 2009; 29:884-888.
  45. Y Soysal, S Balci, K Hekimler, T Liehr, E Ewers, J Schoumans, TH Bui, FM Içduygu, N Kosyakova, N Imirzalıoğlu.
    Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy.
    Am J Med Gen A 2009;149A:2782-2788.
  46. P Burégio-Frota, L Valença, GF Leal, AR Duarte, AV Bispo-Brito, EM Soares-Ventura, TJ Marques-Salles, MT Nogueira, MT Muniz, ML Silva, F Hunstig, T Liehr, N Santos.
    Identification of a de novo inv dup(X)(pter->q22) by multicolor banding in a girl with Turner syndrome.
    Genet Mol Res 2010, 9:780-784.
  47. B Auber, P Burfeind, C Thiels, EA Alsat, M Shoukier, T Liehr, H Nelle, I Bartels, G Salinas-Riester, F Laccone.
     An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.
    Clin Genet 2010, 77:593-597.
  48. D Aktas, EG Utine, K Mrasek, A Weise, F von Eggeling, K Yalaz, N Posorski, N Akarsu, M Alikasifoglu, T Liehr, E Tuncbilek.
    Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair.
    Mol Cytogenet 2010, 3:10.
  49. I Papoulidis, E Manolakos, E Siomou, K Kefalas, L Thomaidis, T Liehr, A Vetro, A Athanasiadis, O Zuffardi, MB Petersen.
    A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth.
    Prenat Diag 2010, 30:586-588
  50. SI Ferreira, E Matoso, M Pinto, J Almeida, T Liehr, JB Melo, IM Carreira.
    X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation.
    Mol Cytogenet 2010, 3:14.
  51. S Balci, B Yuksel Konuk, F Atik, AK Oguz, MA Ergun, V Baltaci, N Kosyakova, T Liehr.
    Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth.
    Genet Couns 2010, 21:317-324.
  52. K Gersak, K Writzl, A Veble, T Liehr.
    Primary amenorrhoea in a patient with mosaicism for monosomy X and a derivative X-chromosome.
    Genet Couns 2010, 21:335-342.
  53. W Al Achkar, A Wafa, F Moassass, T Liehr.
    Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl.
    Mol Cytogenet 2010, 3:18.
  54. K Karaer, MA Ergun, A Weise, E Ewers, T Liehr, N Kosyakova, H Mkrtchyan.
    The case of an infertile male with an uncommon reciprocal X-autosomal translocation: how does this affect male fertility?
    Genet Couns 2010, 21:397-404.
  55. F Pellestor, J Puechberty, A Weise, G Lefort, T Anahory, T Liehr, P Sarda.
    Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier.
    Fertil Steril 2011, 95:2433.e17-2433.e22.
  56. E Manolakos, S Sifakis, S Sotiriou, P Peitsidis, M Eleftheriades, V Mersinias, T Liehr, L Thomaidis, G Kitsos, I Papoulidis, MB Petersen, S Orru S.
    Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature.
    Clin Dysmorphol 2012, 21:101-105.
  57. AB Hamid, K Kreskowski, A Weise, N Kosayakova, K Mrasek, M Voigt, RS Guilherme, R Wagner, D Hardekopf, S Pekova, T Karamysheva, T Liehr, E Klein.
    How to narrow down chromosomal breakpoints in small and large derivative chromosomes – a new probe set.
    J Appl Genet 2012, 53: 259-269.
  58. F Sheth, N Gohel, T Liehr, O Akinde, M Desai, O Adeteye, J Sheth.
    Gain of chromosome 4qter and loss of 5pter – an unusual case with features of Cri du chat syndrome (CdCS).
    Case Reports Genet 2012, 153405.
  59. T Schmidt, I Bartels, T Liehr, P Burfeind, B Zoll, M Shoukiera.
    A family with an inverted tandem duplication 5q22.1q23.2.
    Cytogenet Genome Res 2013,139: 65-70.
  60. B Cavdarli, G Ozgen, AO Kaymak, B Göker, T Liehr, MA Ergun, EF Percin.
    A case with double translocation and Sjögren syndrome.
    Turkiye J Med Sci 2013, 33: 233-236.
  61. E Manolakos, A Vetro, E Papadopoulou, K Kefalas, M Lagou, L Thomaidis, P Peitsidis, S Sifakis, A Divane, M Ziegler, T Liehr, O Zuffardi, I Papoulidis.
    Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four break rearrangement.
    Cytogenet Genome Res 2013, 140: 12-20.
  62. A Vičić, D Zudenigo, P Korać, T Liehr, F Stipoljev.
    Prenatally detected interstitial deletion 13q12.3-q22 in a fetus with a cystic hygroma.
    Gene 2013, 531: 90-91.
  63. RS Guilherme, MC Cernach, TE Sfakianakis, SS Takeno, LM Nardozza, C Rossi, SS Bhatt, T Liehr, MI Melaragno.
    A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification.
    Cytogenet Genome Res 2013, 141: 317-323.
  64. T Schmidt, T Bierhals, F Kortüm, I Bartels, T Liehr, P Burfeind, M Shoukier, V Frank, C Bergmann, K Kutsche.
    Branchio-Otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.
    Cytogenet Genome Res 2014; 142: 1-6.
  65. L Rodríguez, SS Bhatt, M García-Castro, A Plasencia, J Fernández-Toral, E Abarca, M de Bello Cioffi, T Liehr.
    A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion.
    Gene 2014, 535: 165-169.
  66. I Pappoulidis, E Papageorgiou, E Siomou, E Oikonomidou, L Thomaidou, A Vetro, O Zuffardi, T Liehr, E Manolakos.
    A patient with partial trisomy 21 and 7p deletion expresses mild Down syndrome phenotype.
    Gene 2014, 536: 441-443.
  67. S Sifakis, M Eleftheriades, D Kappou, R Murru, A Konstantinidou, S Orru, M Ziegler, T Liehr, E Manolakos, I Papoulidis.
    Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature.
    Birth Defects Research Part A: Clinical and Molecular Teratology 2014, 100: 284-293.
  68. AM Vlaikou, E Manolakos, D Noutsopoulos, G Markopoulos, T Liehr, A Vetro, M Ziegler, A Weise, K Kreskowski, I Papoulidis, L Thomaidis, M Syrrou.
    An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: Case report and literature review.
    Cytogenet Genome Res 2014, 142: 227-238.
  69. M Kehrer, T Liehr, T Benkert, S Singer, U Grasshoff, K Schaeferhoff, M Bonin, A Weichselbaum.
    Interstitial duplication of chromosome region 1q25.1q25.3: Report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.
    Am J Med Genet 2015, 167: 653-656.
  70. W Al-Achkar, F Moassass, A Al-Ablog, T Liehr, X Fan, A Wafa.
    A Syrian couple with chromosomal aberration and MTHFR polymorphism leads to recurrent pregnancy loss and partial trisomy of 5p12-15.3 in the offspring: Case report and review to the literature.
    Zhonghua Nan Ke Xue = Nat J Androl 2015, 21: 219-224.
  71. M Moysés-Oliveira, RD Guilherme, AG Dantas, R Ueta, AB Perez, M Haidar, R Canonaco, VA Meloni, N Kosyakova, T Liehr, GM Carvalheira, MI Melaragno.
    Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations.
    Fertil Steril 2015, 103: 1289-1296.e2.
  72. S Ledig, S Preisler-Adams, S Morlot, T Liehr, P Wieacker.
    Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3).
    Sex Dev 2015, 9: 86-90.
  73. M Moysés-Oliveira, RS Guilherme, VA Meloni, A Di Battista, CB de Mello, S Bragagnolo, D Moretti-Ferreira, N Kosyakova, T Liehr, GM Carvalheira, MI Melaragno MI.
    X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.
    Am J Med Genet B Neuropsychiatr Genet 2015, 168: 669-677.
  74. M Kontodiou, G Daskalakis, A Vetro, V Paspaliaris, G Papaioannou, T Dagklis, I Tsakiridis, M Ziegler, T Liehr, L Thomaidis, I Papoulidis, E Manolakos.
    Complex rearrangement involving three chromosomes, four breakpoints and a 2.7 Mb deletion on 18q segment observed in a girl with mild learning difficulties.
    Cytogenet Genome Res 2015, 147: 118-123.
  75. S Amasdl, A Natiq, A Sbiti, M Zerkaoui, J Lyahyai, T Liehr, S Amzazi, A Sefiani.
    20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature.
    BMC Research Notes 2016, 9:5.
  76. EG Coci, U Koehler, T Liehr, A Stelzner, C Fink, H Langen, J Riedel.
    CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes.
    Mol Cytogenet 2016, 9:10.
  77. S Amasdl, A Natiq, SC Elalaoui, A Sbiti, T Liehr, A Sefiani.
    Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report.
    J Med Case Rep 2016, 10: 122.
  78. B Wannenmacher, D Mitter, F Kießling, T Liehr, A Weise, M Siekmeyer, W Kiess.
    A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findings.
    J Pediatr Endocrinol Metab 2016, 29: 611-616.
  79. AC Malinverni, ME Colovati, AB Perez, TP Caneloi, HR Oliveira Jr, N Kosyakova, T Liehr, AB Hamid, MI Melaragno.
    Unusual duplication in the pericentric region of chromosome 9 in a patient with phenotypic alterations.
    Cytogenet Genome Res 2016, 150: 100-105.
  80. EG Coci, A Auhuber, A Langenbach, K Mrasek, J Riedel, A Leenen, T Lücke, T Liehr.
    Novel unbalanced translocations affecting the long arms of chromosome 10 and 22 causes complex syndromes with very severe neuro-developmental delay, speech impairment, autistic behavior and epilepsy.
    Cytogenet Genome Res 2017, 151: 171-178.
  81. LA Mendez-Rosado, A Lantigua, J Galarza, ABH Al-Rikabi, M Ziegler, T Liehr.
    Unusual de novo partial trisomy 17p12p11.2 due to unbalanced insertion into 5p13.1 in a severely affected boy.
    J Pediatr Genet 2017, 6: 165-168.
  82. H Sheth, S Tewari, K Shah, T Liehr, J Trivedi, M Pandya, JJ Sheth, F Sheth.
    Prenatal detection of cryptic genomic rearrangement: role of detailed family history, pedigree analysis and advanced genomic technologies.
    Int J Preg Child Birth 2017, 3: 00071.
  83. I Papoulidis, A Vetro, V Paspaliaris, M Ziegler, K Kreskowski, G Daskalakis, V Papadopoulos, T Dagklis, T Liehr, L Thomaidis, E Manolakos.
    A girl with 10 Mb distal Xp deletion arising from maternal pericentric inversion: Clinical data and molecular characterization.
    Curr Genomics 2018, 19: 240-246.
  84. PK Priya, VV Mishra , T Liehr, M Ziegler, S Tiwari, A Patel, SS Chettiar, H Patel.
    Characterization of a complex chromosomal rearrangement involving chromosomes 1, 3 and 4 in a slightly affected male partner with unsuccessful obstetric history.
    J Assist Reprod Genet 2018, 35: 721-725.
  85. F Sheth, T Liehr, V Shah, H Sheth, S Tewari, D Solanki, S Trivedi, J Sheth.
    A child with intellectual disability and dysmorphism due to complex ring chromosome 6: Identification of molecular mechanism with review of literature.
    Ital J Pediatr 2018, 44: 114.
  86. M Moysés-Oliveira, A Di-Battista, M Zamariolli, VA Meloni, S Bragagnolo, DM Christofolini, CE Steiner, N Kosyakova, T Liehr, A Reymond, MI Melaragno.
    Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes.
    Eur J Hum Genet 2019, 27: 760-771.
  87. T Liehr, A Weise, K Mrasek, M Ziegler, N Padutsch, K Wilhelm, A Al-Rikabi.
    Recombinant chromosomes resulting from parental pericentric inversions - Two new cases and a review of the literature.
    Front Genet 2019, 10:1165.
  88. LA Mendez Rosado, D García, O Molina, A García, N de León, A Lantigua-Cruz, T Liehr.
    Diagnostico citogenetico molecular en pacientes con trastornos del neurodesarrollo.
    Arch Argentin Pediat 2020, 118:52-55.
  89. RA Pilz, K Schwefel, A Weise, T Liehr, P Demmer, A Spuler, S Spiegler, E Gilberg, CA Hübner, U Felbor, M Rath.
    First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations.
    Sci Rep 2020, 10:6306.
  90. C Sismani, S-M Rapti, P Iliopoulou, A Spring, R Neroutsou, M Lagou, M Robola, E Tsitsopoulos, L Kousoulidou, A Alexandrou, I Papaevripidou, A Theodosiou, M Syrrou, S Fuchs, M Hempel, D Huhle, T Liehr, M Ziegler, M Duesberg, V Velissariou.
    Novel pericentric inversion inv(9)(p23q22.3) in unrelated individualswith fertility problems in the Southeast European population.
    J Hum Genet 2020, 65:783-795.
  91. VI Romero, JC Pozo, S Saenz, A Llamos-Paneque, T Liehr, K Hosomichi, A Tajima.
    A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14).
    Hum Genome Var 2020, 7:28.
  92. I Joksic, T Liehr, M Toljic, N Karadzov-Orlic, Z Milovanovic, Z Mikovic, A Egic.
    Prenatal ultrasonographic manifestations of partial trisomy 12q (12q24.2→qter) and partial monosomy 2q (2q37.3→2qter).
    Vojnosanit Pregl 2020, 77:754-757.
  93. M Rincic, M Rados, J Kopic, Z Krsnik, T Liehr.
    7p21.3 together with a 12p13.32 deletion in a patient with microcephaly - does 12p13.32 locus possible comprises a candidate gene region for microcephaly?
    Front Mol Neuroscience 2021; 14: 613091.
  94. S Tsan, S Kankel, N Padutsch, L Person, M Ziegler, A Al-Rikabi, A Weise, K Mrasek, T Liehr.
    About cryptic acrocentric pericentromeric abnormalities in infertile.
    OBM Genetics 2021, 5:11.
  95. I Fickelscher, T Liehr, K Watts, V Bryant, JCK Barber, R Siebert, S Heidemann, JM Hertz, Z Tümer, NS Thomas.
    The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.
    Am J Hum Gen 2007, 81:847-856.
  96. RS Guilherme, E Klein, AB Hamid, S Bhatt, M Volleth, A Polityko, A Kulpanovich, A Dufke, B Albrecht, S Morlot, L Brecevic, MB Petersen, E Manolakos, N Kosyakova, T Liehr.
    Human ring chromosomes – new insights for their clinical significance.
    Balk J Med Genet 2013, 16: 13-19.
  97. RS Guilherme, E Klein, C Venner, AB Hamid, S Bhatt, MI Melaragno, M Volleth, A Polityko, A Kulpanovich, N Kosyakova, T Liehr.
    Human ring chromosomes and small supernumerary marker chromosomes – do they have telomeres?
    Chromosome Res 2012; 20: 825-835