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A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24.
Van Den Bogaert K, De Leenheer EM, Chen W, Lee Y, Nürnberg P, Pennings RJ, Vanderstraeten K, Thys M, Cremers CW, Smith RJ, Van Camp G. Van Den Bogaert K, et al. Among authors: cremers cw. J Med Genet. 2004 Jun;41(6):450-3. doi: 10.1136/jmg.2004.018671. J Med Genet. 2004. PMID: 15173231 Free PMC article. No abstract available.
A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44.
Schrauwen I, Weegerink NJ, Fransen E, Claes C, Pennings RJ, Cremers CW, Huygen PL, Kunst HP, Van Camp G. Schrauwen I, et al. Among authors: cremers cw. Clin Genet. 2011 May;79(5):495-7. doi: 10.1111/j.1399-0004.2010.01576.x. Clin Genet. 2011. PMID: 21470211 No abstract available.
Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients.
Thys M, Schrauwen I, Vanderstraeten K, Dieltjens N, Fransen E, Ealy M, Cremers CW, van de Heyning P, Vincent R, Offeciers E, Smith RH, van Camp G. Thys M, et al. Among authors: cremers cw. Ann Hum Genet. 2009 Mar;73(2):171-5. doi: 10.1111/j.1469-1809.2009.00505.x. Epub 2009 Jan 30. Ann Hum Genet. 2009. PMID: 19207109
The phenotype of the first otosclerosis family linked to OTSC5.
Pauw RJ, De Leenheer EM, Van Den Bogaert K, Huygen PL, Van Camp G, Joosten FB, Cremers CW. Pauw RJ, et al. Among authors: cremers cw. Otol Neurotol. 2006 Apr;27(3):308-15. doi: 10.1097/00129492-200604000-00004. Otol Neurotol. 2006. PMID: 16639267
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation.
Fransen E, Verstreken M, Bom SJ, Lemaire F, Kemperman MH, De Kok YJ, Wuyts FL, Verhagen WI, Huygen PL, McGuirt WT, Smith RJ, Van Maldergem LV, Declau F, Cremers CW, Van De Heyning PH, Cremers FP, Van Camp G. Fransen E, et al. Among authors: cremers cw, cremers fp. J Med Genet. 2001 Jan;38(1):61-5. doi: 10.1136/jmg.38.1.61. J Med Genet. 2001. PMID: 11332404 Free PMC article. No abstract available.
438 results