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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: smith rj. 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.
Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.
Chen W, Campbell CA, Green GE, Van Den Bogaert K, Komodikis C, Manolidis LS, Aconomou E, Kyamides Y, Christodoulou K, Faghel C, Giguére CM, Alford RL, Manolidis S, Van Camp G, Smith RJ. Chen W, et al. Among authors: smith rj. J Med Genet. 2002 Jul;39(7):473-7. doi: 10.1136/jmg.39.7.473. J Med Genet. 2002. PMID: 12114476 Free PMC article.
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.
Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CR, Smith RJ, Petersen MB, Van Camp G. Thys M, et al. Among authors: smith rj. Eur J Hum Genet. 2007 Mar;15(3):362-8. doi: 10.1038/sj.ejhg.5201761. Epub 2007 Jan 10. Eur J Hum Genet. 2007. PMID: 17213839
A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.
Van Den Bogaert K, Govaerts PJ, Schatteman I, Brown MR, Caethoven G, Offeciers FE, Somers T, Declau F, Coucke P, Van de Heyning P, Smith RJ, Van Camp G. Van Den Bogaert K, et al. Among authors: smith rj. Am J Hum Genet. 2001 Feb;68(2):495-500. doi: 10.1086/318185. Epub 2001 Jan 16. Am J Hum Genet. 2001. PMID: 11170898 Free PMC article.
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G. Cryns K, et al. Among authors: smith rj. Hum Genet. 2002 May;110(5):389-94. doi: 10.1007/s00439-002-0719-1. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073007
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: smith rj. 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.
2,316 results