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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: riazuddin s. 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.
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
Riazuddin S, Castelein CM, Ahmed ZM, Lalwani AK, Mastroianni MA, Naz S, Smith TN, Liburd NA, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER. Riazuddin S, et al. Nat Genet. 2000 Dec;26(4):431-4. doi: 10.1038/82558. Nat Genet. 2000. PMID: 11101839
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER. Ahmed ZM, et al. Among authors: riazuddin s. Am J Hum Genet. 2001 Jul;69(1):25-34. doi: 10.1086/321277. Epub 2001 Jun 7. Am J Hum Genet. 2001. PMID: 11398101 Free PMC article.
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB. Liburd N, et al. Among authors: riazuddin s. Hum Genet. 2001 Nov;109(5):535-41. doi: 10.1007/s004390100604. Epub 2001 Oct 3. Hum Genet. 2001. PMID: 11735029
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ. Kurima K, et al. Among authors: riazuddin s. Nat Genet. 2002 Mar;30(3):277-84. doi: 10.1038/ng842. Epub 2002 Feb 19. Nat Genet. 2002. PMID: 11850618
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: riazuddin s. 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 MYO6 are associated with recessive deafness, DFNB37.
Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER. Ahmed ZM, et al. Among authors: riazuddin s. Am J Hum Genet. 2003 May;72(5):1315-22. doi: 10.1086/375122. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687499 Free PMC article.
389 results