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Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJ, Wilcox ER. Naz S, et al. Among authors: ramesh a. Am J Hum Genet. 2002 Sep;71(3):632-6. doi: 10.1086/342193. Epub 2002 Jul 24. Am J Hum Genet. 2002. PMID: 12145746 Free PMC article.
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.
Khan SY, Ahmed ZM, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S. Khan SY, et al. Among authors: ramesh a. Hum Mutat. 2007 May;28(5):417-23. doi: 10.1002/humu.20469. Hum Mutat. 2007. PMID: 17226784
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: ramesh a. 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.
Refining the DFNB17 interval in consanguineous Indian families.
Guo Y, Pilipenko V, Lim LH, Dou H, Johnson L, Srisailapathy CR, Ramesh A, Choo DI, Smith RJ, Greinwald JH. Guo Y, et al. Among authors: ramesh a. Mol Biol Rep. 2004 Jun;31(2):97-105. doi: 10.1023/b:mole.0000031385.64105.61. Mol Biol Rep. 2004. PMID: 15293785
Two frequent missense mutations in Pendred syndrome.
Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G. Van Hauwe P, et al. Among authors: ramesh a. Hum Mol Genet. 1998 Jul;7(7):1099-104. doi: 10.1093/hmg/7.7.1099. Hum Mol Genet. 1998. PMID: 9618166
887 results