Friedman TB - Search Results

1

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

2

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.

Morell R, Friedman TB, Moeljopawiro S, Hartono, Soewito, Asher JH Jr. Morell R, et al. Among authors: friedman tb. Hum Mol Genet. 1992 Jul;1(4):243-7. doi: 10.1093/hmg/1.4.243. Hum Mol Genet. 1992. PMID: 1303193

3

Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.

Asher JH Jr, Morell R, Friedman TB. Asher JH Jr, et al. Among authors: friedman tb. Am J Hum Genet. 1991 Jan;48(1):43-52. Am J Hum Genet. 1991. PMID: 1670751 Free PMC article.

4

Confirmation of the location of a Waardenburg syndrome type I mutation on human chromosome 2q. Tight linkage to FN1 and ALPP.

Asher JH Jr, Morell R, Friedman TB. Asher JH Jr, et al. Among authors: friedman tb. Ann N Y Acad Sci. 1991;630:295-7. doi: 10.1111/j.1749-6632.1991.tb19611.x. Ann N Y Acad Sci. 1991. PMID: 1683205 No abstract available.

5

Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

Winata S, Arhya IN, Moeljopawiro S, Hinnant JT, Liang Y, Friedman TB, Asher JH Jr. Winata S, et al. Among authors: friedman tb. J Med Genet. 1995 May;32(5):336-43. doi: 10.1136/jmg.32.5.336. J Med Genet. 1995. PMID: 7616538 Free PMC article.

6

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

7

Analysis of short tandem repeat (STR) allele frequency distributions in a Balinese population.

Morell R, Liang Y, Asher JH Jr, Weber JL, Hinnant JT, Winata S, Arhya IN, Friedman TB. Morell R, et al. Among authors: friedman tb. Hum Mol Genet. 1995 Jan;4(1):85-91. doi: 10.1093/hmg/4.1.85. Hum Mol Genet. 1995. PMID: 7711738

8

Dinucleotide repeat polymorphism at D14S542.

Carey ML, Liang Y, Barber TD, Morell R, Johnson DH, Cox S, Asher JH Jr, Friedman TB. Carey ML, et al. Among authors: friedman tb. Hum Mol Genet. 1994 Sep;3(9):1712. doi: 10.1093/hmg/3.9.1712-a. Hum Mol Genet. 1994. PMID: 7833943 No abstract available.

9

A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family.

Morell R, Friedman TB, Asher JH Jr. Morell R, et al. Among authors: friedman tb. Hum Mol Genet. 1993 Sep;2(9):1487-8. doi: 10.1093/hmg/2.9.1487. Hum Mol Genet. 1993. PMID: 7902163 No abstract available.

10

A highly informative dinucleotide repeat polymorphism at the D2S211 locus linked to ALPP, FN1 and TNP1.

Barber TD, Morell R, Johnson DH, Asher JH Jr, Friedman TB. Barber TD, et al. Among authors: friedman tb. Hum Mol Genet. 1993 Jan;2(1):88. doi: 10.1093/hmg/2.1.88. Hum Mol Genet. 1993. PMID: 8098246 No abstract available.

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