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238 results

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Page 1
Usher syndrome type 1: genotype-phenotype relationships.
Friedman TB, Schultz JM, Ahmed ZM. Friedman TB, et al. Retina. 2005 Dec;25(8 Suppl):S40-S42. doi: 10.1097/00006982-200512001-00016. Retina. 2005. PMID: 16374329 Review. No abstract available.
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: friedman tb. 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. Among authors: friedman tb. 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: friedman tb. 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 TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudoh J, Shibuya K, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Riazuddin S, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ. Ben-Yosef T, et al. Among authors: friedman tb. J Med Genet. 2001 Jun;38(6):396-400. doi: 10.1136/jmg.38.6.396. J Med Genet. 2001. PMID: 11424922 Free PMC article. No abstract available.
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: friedman tb. 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: friedman tb. Nat Genet. 2002 Mar;30(3):277-84. doi: 10.1038/ng842. Epub 2002 Feb 19. Nat Genet. 2002. PMID: 11850618
Clinical manifestations of DFNB29 deafness.
Ahmed ZM, Riazuddin S, Friedman TB, Riazuddin S, Wilcox ER, Griffith AJ. Ahmed ZM, et al. Among authors: friedman tb. Adv Otorhinolaryngol. 2002;61:156-60. doi: 10.1159/000066828. Adv Otorhinolaryngol. 2002. PMID: 12408079 No abstract available.
Genetic modifiers of hereditary hearing loss.
Riazuddin S, Ahmed ZM, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER. Riazuddin S, et al. Among authors: friedman tb. Adv Otorhinolaryngol. 2002;61:224-9. doi: 10.1159/000066813. Adv Otorhinolaryngol. 2002. PMID: 12408088 No abstract available.
238 results