Smith RJ - Search Results

1

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC. Scott DA, et al. Among authors: smith rj. Hum Mutat. 1998;11(5):387-94. doi: 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8. Hum Mutat. 1998. PMID: 9600457

2

Linkage of a gene for dominant non-syndromic deafness to chromosome 19.

Chen AH, Ni L, Fukushima K, Marietta J, O'Neill M, Coucke P, Willems P, Smith RJ. Chen AH, et al. Among authors: smith rj. Hum Mol Genet. 1995 Jun;4(6):1073-6. doi: 10.1093/hmg/4.6.1073. Hum Mol Genet. 1995. PMID: 7655461

3

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

van Camp G, Coucke P, Balemans W, van Velzen D, van de Bilt C, van Laer L, Smith RJ, Fukushima K, Padberg GW, Frants RR, et al. van Camp G, et al. Among authors: smith rj. Hum Mol Genet. 1995 Nov;4(11):2159-63. doi: 10.1093/hmg/4.11.2159. Hum Mol Genet. 1995. PMID: 8589696

4

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.

Fukushima K, Ramesh A, Srisailapathy CR, Ni L, Wayne S, O'Neill ME, Van Camp G, Coucke P, Jain P, Wilcox ER, Smith SD, Kenyon JB, Zbar RI, Smith RJ. Fukushima K, et al. Among authors: smith sd, smith rj. Genome Res. 1995 Oct;5(3):305-8. doi: 10.1101/gr.5.3.305. Genome Res. 1995. PMID: 8593615 Free article.

5

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.

Lesperance MM, Hall JW 3rd, Bess FH, Fukushima K, Jain PK, Ploplis B, San Agustin TB, Skarka H, Smith RJ, Wills M, et al. Lesperance MM, et al. Among authors: smith rj. Hum Mol Genet. 1995 Oct;4(10):1967-72. doi: 10.1093/hmg/4.10.1967. Hum Mol Genet. 1995. PMID: 8595423

6

A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.

O'Neill ME, Marietta J, Nishimura D, Wayne S, Van Camp G, Van Laer L, Negrini C, Wilcox ER, Chen A, Fukushima K, Ni L, Sheffield VC, Smith RJ. O'Neill ME, et al. Among authors: smith rj. Hum Mol Genet. 1996 Jun;5(6):853-6. doi: 10.1093/hmg/5.6.853. Hum Mol Genet. 1996. PMID: 8776603

7

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ. Wayne S, et al. Among authors: smith rj. Hum Mol Genet. 1996 Oct;5(10):1689-92. doi: 10.1093/hmg/5.10.1689. Hum Mol Genet. 1996. PMID: 8894709

8

The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.

Coucke P, Van Camp G, Demirhan O, Kabakkaya Y, Balemans W, Van Hauwe P, Van Agtmael T, Smith RJ, Parving A, Bolder CH, Cremers CW, Willems PJ. Coucke P, et al. Among authors: smith rj. Genomics. 1997 Feb 15;40(1):48-54. doi: 10.1006/geno.1996.4541. Genomics. 1997. PMID: 9070918 Free article.

9

Nonsyndromic hearing impairment: unparalleled heterogeneity.

Van Camp G, Willems PJ, Smith RJ. Van Camp G, et al. Among authors: smith rj. Am J Hum Genet. 1997 Apr;60(4):758-64. Am J Hum Genet. 1997. PMID: 9106521 Free PMC article. Review. No abstract available.

10

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.

Van Camp G, Coucke PJ, Kunst H, Schatteman I, Van Velzen D, Marres H, van Ewijk M, Declau F, Van Hauwe P, Meyers J, Kenyon J, Smith SD, Smith RJ, Djelantik B, Cremers CW, Van de Heyning PH, Willems PJ. Van Camp G, et al. Among authors: smith sd, smith rj. Genomics. 1997 Apr 1;41(1):70-4. doi: 10.1006/geno.1997.4624. Genomics. 1997. PMID: 9126484 Free article.

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