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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M. Seemanova E, et al. Among authors: digweed m. PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016. PLoS One. 2016. PMID: 27936167 Free PMC article.
Cancer risk of heterozygotes with the NBN founder mutation.
Seemanová E, Jarolim P, Seeman P, Varon R, Digweed M, Swift M, Sperling K. Seemanová E, et al. Among authors: digweed m. J Natl Cancer Inst. 2007 Dec 19;99(24):1875-80. doi: 10.1093/jnci/djm251. Epub 2007 Dec 11. J Natl Cancer Inst. 2007. PMID: 18073374
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
Dutrannoy V, Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, Gillessen-Kaesbach G, Radszewski J, Rothe S, Schellenberger MT, Nürnberg G, Nürnberg P, Teik KW, Nallusamy R, Reis A, Sperling K, Digweed M, Varon R. Dutrannoy V, et al. Among authors: digweed m. Hum Mutat. 2010 Sep;31(9):1059-68. doi: 10.1002/humu.21315. Hum Mutat. 2010. PMID: 20597108
Nijmegen breakage syndrome (NBS).
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Chrzanowska KH, et al. Among authors: digweed m. Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Orphanet J Rare Dis. 2012. PMID: 22373003 Free PMC article. Review.
82 results