Friedman TB - Search Results

1

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER. Ahmed ZM, et al. Among authors: friedman tb. Hum Genet. 2002 Jun;110(6):527-31. doi: 10.1007/s00439-002-0732-4. Epub 2002 May 3. Hum Genet. 2002. PMID: 12107438

2

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

Friedman TB, Liang Y, Weber JL, Hinnant JT, Barber TD, Winata S, Arhya IN, Asher JH Jr. Friedman TB, et al. Nat Genet. 1995 Jan;9(1):86-91. doi: 10.1038/ng0195-86. Nat Genet. 1995. PMID: 7704031

3

A mutation in PDS causes non-syndromic recessive deafness.

Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER. Li XC, et al. Among authors: friedman tb. Nat Genet. 1998 Mar;18(3):215-7. doi: 10.1038/ng0398-215. Nat Genet. 1998. PMID: 9500541 No abstract available.

4

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.

5

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB. Wang A, et al. Among authors: friedman tb. Science. 1998 May 29;280(5368):1447-51. doi: 10.1126/science.280.5368.1447. Science. 1998. PMID: 9603736

6

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA. DeStefano AL, et al. Among authors: friedman tb. Hum Genet. 1998 May;102(5):499-506. doi: 10.1007/s004390050732. Hum Genet. 1998. PMID: 9654197

7

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.

Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB. Morell RJ, et al. Among authors: friedman tb. N Engl J Med. 1998 Nov 19;339(21):1500-5. doi: 10.1056/NEJM199811193392103. N Engl J Med. 1998. PMID: 9819448 Free article.

8

Making sense out of sound.

Griffith AJ, Friedman TB. Griffith AJ, et al. Among authors: friedman tb. Nat Genet. 1999 Apr;21(4):347-9. doi: 10.1038/7668. Nat Genet. 1999. PMID: 10192378 No abstract available.

9

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.

10

DFNB3 families and Shaker-2 mice: mutations in an unconventional myosin, myo 15.

Friedman TB, Hinnant JT, Fridell RA, Wilcox ER, Raphael Y, Camper SA. Friedman TB, et al. Adv Otorhinolaryngol. 2000;56:131-44. doi: 10.1159/000059094. Adv Otorhinolaryngol. 2000. PMID: 10868225 Review. No abstract available.

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