Friedman TB - Search Results

1

Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.

Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB. Faridi R, et al. Among authors: friedman tb. Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. Epub 2023 Mar 13. Clin Genet. 2023. PMID: 36807241

2

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.

3

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.

4

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.

5

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).

Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH Jr. Morell R, et al. Among authors: friedman tb. Hum Mol Genet. 1997 May;6(5):659-64. doi: 10.1093/hmg/6.5.659. Hum Mol Genet. 1997. PMID: 9158138

6

The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).

Morell R, Friedman TB, Asher JH Jr, Robbins LG. Morell R, et al. Among authors: friedman tb. J Med Genet. 1997 Jun;34(6):447-52. doi: 10.1136/jmg.34.6.447. J Med Genet. 1997. PMID: 9192262 Free PMC article. Review.

7

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.

8

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

9

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.

10

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.

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