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New mutations in the ATM gene and clinical data of 25 AT patients.
Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I, Nicke M, Bora E, Cankaya T, Oláh É, Kiss C, Bessenyei B, Szakszon K, Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dörk T, Digweed M, Sperling K, de Sá J, Lourenco CM, Varon R. Demuth I, et al. Among authors: dork t. Neurogenetics. 2011 Nov;12(4):273-82. doi: 10.1007/s10048-011-0299-0. Epub 2011 Oct 2. Neurogenetics. 2011. PMID: 21965147
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dörk T. Waltes R, et al. Among authors: dork t. Am J Hum Genet. 2009 May;84(5):605-16. doi: 10.1016/j.ajhg.2009.04.010. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409520 Free PMC article.
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
van Os NJH, Chessa L, Weemaes CMR, van Deuren M, Fiévet A, van Gaalen J, Mahlaoui N, Roeleveld N, Schrader C, Schindler D, Taylor AMR, Van de Warrenburg BPC, Dörk T, Willemsen MAAP. van Os NJH, et al. Among authors: dork t. J Med Genet. 2019 May;56(5):308-316. doi: 10.1136/jmedgenet-2018-105635. Epub 2019 Feb 28. J Med Genet. 2019. PMID: 30819809
Nijmegen Breakage Syndrome mutations and risk of breast cancer.
Bogdanova N, Feshchenko S, Schürmann P, Waltes R, Wieland B, Hillemanns P, Rogov YI, Dammann O, Bremer M, Karstens JH, Sohn C, Varon R, Dörk T. Bogdanova N, et al. Among authors: dork t. Int J Cancer. 2008 Feb 15;122(4):802-6. doi: 10.1002/ijc.23168. Int J Cancer. 2008. PMID: 17957789
ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle control.
Gatei M, Jakob B, Chen P, Kijas AW, Becherel OJ, Gueven N, Birrell G, Lee JH, Paull TT, Lerenthal Y, Fazry S, Taucher-Scholz G, Kalb R, Schindler D, Waltes R, Dörk T, Lavin MF. Gatei M, et al. Among authors: dork t. J Biol Chem. 2011 Sep 9;286(36):31542-56. doi: 10.1074/jbc.M111.258152. Epub 2011 Jul 14. J Biol Chem. 2011. PMID: 21757780 Free PMC article.
Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer.
Kohlhase S, Bogdanova NV, Schürmann P, Bermisheva M, Khusnutdinova E, Antonenkova N, Park-Simon TW, Hillemanns P, Meyer A, Christiansen H, Schindler D, Dörk T. Kohlhase S, et al. Among authors: dork t. PLoS One. 2014 Jan 21;9(1):e85334. doi: 10.1371/journal.pone.0085334. eCollection 2014. PLoS One. 2014. PMID: 24465539 Free PMC article.
399 results