Friedman TB - Search Results

1

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.

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

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.

7

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.

8

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.

9

Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.

Asher JH Jr, Sommer A, Morell R, Friedman TB. Asher JH Jr, et al. Among authors: friedman tb. Hum Mutat. 1996;7(1):30-5. doi: 10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T. Hum Mutat. 1996. PMID: 8664898

10

Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1.

Morell R, Carey ML, Lalwani AK, Friedman TB, Asher JH Jr. Morell R, et al. Among authors: friedman tb. Hum Hered. 1997 Jan-Feb;47(1):38-41. doi: 10.1159/000154387. Hum Hered. 1997. PMID: 9017978

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