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Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.
Pusch CM, Meyer B, Kupka S, Smith RJ, Lalwani AK, Zenner HP, Blin N, Nürnberg P, Pfister M. Pusch CM, et al. Among authors: smith rj. J Mol Med (Berl). 2004 Jun;82(6):398-402. doi: 10.1007/s00109-004-0538-z. Epub 2004 Mar 24. J Mol Med (Berl). 2004. PMID: 15042303
Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.
Van Camp G, Coucke PJ, Kunst H, Schatteman I, Van Velzen D, Marres H, van Ewijk M, Declau F, Van Hauwe P, Meyers J, Kenyon J, Smith SD, Smith RJ, Djelantik B, Cremers CW, Van de Heyning PH, Willems PJ. Van Camp G, et al. Among authors: smith sd, smith rj. Genomics. 1997 Apr 1;41(1):70-4. doi: 10.1006/geno.1997.4624. Genomics. 1997. PMID: 9126484 Free article.
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Bork JM, et al. Among authors: smith rj. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub 2000 Nov 21. Am J Hum Genet. 2001. PMID: 11090341 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 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.
2,312 results