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Heteromorphic variants of chromosome 9.
Kosyakova N, Grigorian A, Liehr T, Manvelyan M, Simonyan I, Mkrtchyan H, Aroutiounian R, Polityko AD, Kulpanovich AI, Egorova T, Jaroshevich E, Frolova A, Shorokh N, Naumchik IV, Volleth M, Schreyer I, Nelle H, Stumm M, Wegner RD, Reising-Ackermann G, Merkas M, Brecevic L, Martin T, Rodríguez L, Bhatt S, Ziegler M, Kreskowski K, Weise A, Sazci A, Vorsanova S, Cioffi Mde B, Ergul E. Kosyakova N, et al. Among authors: martin t. Mol Cytogenet. 2013 Apr 1;6(1):14. doi: 10.1186/1755-8166-6-14. Mol Cytogenet. 2013. PMID: 23547710 Free PMC article.
Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature.
Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazaurik ML, Schulze B, Polityko A, Tittelbach H, Reising-Ackermann G, Belitz B, Hehr U, Kelbova C, Volleth M, Gödde E, Anderson J, Küpferling P, Köhler S, Duba HC, Dufke A, Aktas D, Martin T, Schreyer I, Ewers E, Reich D, Mrasek K, Weise A, Liehr T. Manvelyan M, et al. Among authors: martin t. Int J Mol Med. 2008 Jun;21(6):705-14. Int J Mol Med. 2008. PMID: 18506363 Free article.
Small supernumerary marker chromosomes 1 with a normal phenotype.
Liehr T, Wegner RD, Stumm M, Martin T, Gillessen-Kaesbach G, Kosyakova N, Ewers E, Hamid AB, von Eggeling F, Hentschel J, Ziegler M, Weise A. Liehr T, et al. Among authors: martin t. J Chin Med Assoc. 2010 Apr;73(4):205-7. doi: 10.1016/S1726-4901(10)70042-3. J Chin Med Assoc. 2010. PMID: 20457442 Free article.
Mitotic stability of small supernumerary marker chromosomes: a study based on 93 immortalized cell lines.
Spittel H, Kubek F, Kreskowski K, Ziegler M, Klein E, Hamid AB, Kosyakova N, Radhakrishnan G, Junge A, Kozlowski P, Schulze B, Martin T, Huhle D, Mehnert K, Rodríguez L, Ergun MA, Sarri C, Militaru M, Stipoljev F, Tittelbach H, Vasheghani F, de Bello Cioffi M, Hussein SS, Fan X, Volleth M, Liehr T. Spittel H, et al. Among authors: martin t. Cytogenet Genome Res. 2014;142(3):151-60. doi: 10.1159/000360776. Epub 2014 Apr 1. Cytogenet Genome Res. 2014. PMID: 24714101 Free article.
Phenotypic spectrum associated with CASK loss-of-function mutations.
Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G. Moog U, et al. Among authors: martin t. J Med Genet. 2011 Nov;48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27. J Med Genet. 2011. PMID: 21954287
Christianson syndrome in a patient with an interstitial Xq26.3 deletion.
Tzschach A, Ullmann R, Ahmed A, Martin T, Weber G, Decker-Schwering O, Pauly F, Shamdeen MG, Reith W, Oehl-Jaschkowitz B. Tzschach A, et al. Among authors: martin t. Am J Med Genet A. 2011 Nov;155A(11):2771-4. doi: 10.1002/ajmg.a.34230. Epub 2011 Sep 19. Am J Med Genet A. 2011. PMID: 21932316
4,769 results