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Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
Riazuddin S, Anwar S, Fischer M, Ahmed ZM, Khan SY, Janssen AG, Zafar AU, Scholl U, Husnain T, Belyantseva IA, Friedman PL, Riazuddin S, Friedman TB, Fahlke C. Riazuddin S, et al. Among authors: friedman tb, friedman pl. Am J Hum Genet. 2009 Aug;85(2):273-80. doi: 10.1016/j.ajhg.2009.07.003. Epub 2009 Jul 30. Am J Hum Genet. 2009. PMID: 19646679 Free PMC article.
Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia.
Innis JW, Asher JH Jr, Liang Y, Wang A, Wilke CM, Dierick HA, Kazen-Gillespie K, Sheldon S, Glover TW, Friedman TB. Innis JW, et al. Among authors: friedman tb. Am J Med Genet. 1997 Aug 22;71(3):292-7. Am J Med Genet. 1997. PMID: 9268099 Free article.
Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
Liang Y, Wang A, Probst FJ, Arhya IN, Barber TD, Chen KS, Deshmukh D, Dolan DF, Hinnant JT, Carter LE, Jain PK, Lalwani AK, Li XC, Lupski JR, Moeljopawiro S, Morell R, Negrini C, Wilcox ER, Winata S, Camper SA, Friedman TB. Liang Y, et al. Among authors: friedman tb. Am J Hum Genet. 1998 Apr;62(4):904-15. doi: 10.1086/301786. Am J Hum Genet. 1998. PMID: 9529344 Free PMC article.
Unconventional myosins and the genetics of hearing loss.
Friedman TB, Sellers JR, Avraham KB. Friedman TB, et al. Am J Med Genet. 1999 Sep 24;89(3):147-57. doi: 10.1002/(sici)1096-8628(19990924)89:3<147::aid-ajmg5>3.0.co;2-6. Am J Med Genet. 1999. PMID: 10704189 Review.
Modifier genes of hereditary hearing loss.
Friedman T, Battey J, Kachar B, Riazuddin S, Noben-Trauth K, Griffith A, Wilcox E. Friedman T, et al. Curr Opin Neurobiol. 2000 Aug;10(4):487-93. doi: 10.1016/s0959-4388(00)00120-3. Curr Opin Neurobiol. 2000. PMID: 10981618 Review.
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.
232 results