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Dominant negative ATM mutations in breast cancer families.
Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, Donn K, Cummings M, Nyholt D, Jenkins MA, Scott C, Pupo GM, Dörk T, Bendix R, Kirk J, Tucker K, McCredie MR, Hopper JL, Sambrook J, Mann GJ, Khanna KK. Chenevix-Trench G, et al. Among authors: dork t. J Natl Cancer Inst. 2002 Feb 6;94(3):205-15. doi: 10.1093/jnci/94.3.205. J Natl Cancer Inst. 2002. PMID: 11830610
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.
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.
Mitochondrial dysfunction in a novel form of autosomal recessive ataxia.
Murad NA, Cullen JK, McKenzie M, Ryan MT, Thorburn D, Gueven N, Kobayashi J, Birrell G, Yang J, Dörk T, Becherel O, Grattan-Smith P, Lavin MF. Murad NA, et al. Among authors: dork t. Mitochondrion. 2013 May;13(3):235-45. doi: 10.1016/j.mito.2012.11.006. Epub 2012 Nov 22. Mitochondrion. 2013. PMID: 23178371 Review.
Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.
Milne RL, Burwinkel B, Michailidou K, Arias-Perez JI, Zamora MP, Menéndez-Rodríguez P, Hardisson D, Mendiola M, González-Neira A, Pita G, Alonso MR, Dennis J, Wang Q, Bolla MK, Swerdlow A, Ashworth A, Orr N, Schoemaker M, Ko YD, Brauch H, Hamann U; GENICA Network; Andrulis IL, Knight JA, Glendon G, Tchatchou S; kConFab Investigators; Australian Ovarian Cancer Study Group; Matsuo K, Ito H, Iwata H, Tajima K, Li J, Brand JS, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Lambrechts D, Peuteman G, Christiaens MR, Smeets A, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Hartman M, Hui M, Yen Lim W, Wan Chan C, Marme F, Yang R, Bugert P, Lindblom A, Margolin S, García-Closas M, Chanock SJ, Lissowska J, Figueroa JD, Bojesen SE, Nordestgaard BG, Flyger H, Hooning MJ, Kriege M, van den Ouweland AM, Koppert LB, Fletcher O, Johnson N, dos-Santos-Silva I, Peto J, Zheng W, Deming-Halverson S, Shrubsole MJ, Long J, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Cox A, Cross SS, Reed MW, Schmidt MK, Broeks A, Cornelissen S, Braaf L, Kang D, Choi JY, Park SK, Noh DY, Simard J, Dumont M, Goldberg MS, Labrèche F, Fasching PA, Hein … See abstract for full author list ➔ Milne RL, et al. Among authors: dork t. Hum Mol Genet. 2014 Nov 15;23(22):6096-111. doi: 10.1093/hmg/ddu311. Epub 2014 Jun 18. Hum Mol Genet. 2014. PMID: 24943594 Free PMC article.
RAD50 regulates mitotic progression independent of DNA repair functions.
Völkening L, Vatselia A, Asgedom G, Bastians H, Lavin M, Schindler D, Schambach A, Bousset K, Dörk T. Völkening L, et al. Among authors: dork t. FASEB J. 2020 Feb;34(2):2812-2820. doi: 10.1096/fj.201902318R. Epub 2019 Dec 31. FASEB J. 2020. PMID: 31908056
Human RAD50 deficiency: Confirmation of a distinctive phenotype.
Ragamin A, Yigit G, Bousset K, Beleggia F, Verheijen FW, de Wit MY, Strom TM, Dörk T, Wollnik B, Mancini GMS. Ragamin A, et al. Among authors: dork t. Am J Med Genet A. 2020 Jun;182(6):1378-1386. doi: 10.1002/ajmg.a.61570. Epub 2020 Mar 25. Am J Med Genet A. 2020. PMID: 32212377 Free PMC article.
385 results