Smith RJH - Search Results

1

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.

Thorpe RK, Azaiez H, Wu P, Wang Q, Xu L, Dai P, Yang T, Schaefer GB, Peters BR, Chan KH, Schatz KS, Bodurtha J, Robin NH, Hirsch Y, Rahbeeni ZA, Yuan H, Smith RJH. Thorpe RK, et al. Among authors: smith rjh. Hum Genet. 2022 Apr;141(3-4):853-863. doi: 10.1007/s00439-021-02340-w. Epub 2021 Aug 23. Hum Genet. 2022. PMID: 34424407 Free PMC article.

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. 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. Hum Mol Genet. 1995 Nov;4(11):2159-63. doi: 10.1093/hmg/4.11.2159. Hum Mol Genet. 1995. PMID: 8589696

4

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. Hum Mol Genet. 1996 Jun;5(6):853-6. doi: 10.1093/hmg/5.6.853. Hum Mol Genet. 1996. PMID: 8776603

5

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. Hum Mol Genet. 1996 Oct;5(10):1689-92. doi: 10.1093/hmg/5.10.1689. Hum Mol Genet. 1996. PMID: 8894709

6

A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.

Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ. Verhoeven K, et al. Am J Hum Genet. 1997 May;60(5):1168-73. Am J Hum Genet. 1997. PMID: 9150164 Free PMC article.

7

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.

Brown MR, Tomek MS, Van Laer L, Smith S, Kenyon JB, Van Camp G, Smith RJ. Brown MR, et al. Am J Hum Genet. 1997 Oct;61(4):924-7. doi: 10.1086/514892. Am J Hum Genet. 1997. PMID: 9382104 Free PMC article.

8

Localization of a gene for otosclerosis to chromosome 15q25-q26.

Tomek MS, Brown MR, Mani SR, Ramesh A, Srisailapathy CR, Coucke P, Zbar RI, Bell AM, McGuirt WT, Fukushima K, Willems PJ, Van Camp G, Smith RJ. Tomek MS, et al. Hum Mol Genet. 1998 Feb;7(2):285-90. doi: 10.1093/hmg/7.2.285. Hum Mol Genet. 1998. PMID: 9425236

9

Two frequent missense mutations in Pendred syndrome.

Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G. Van Hauwe P, et al. Hum Mol Genet. 1998 Jul;7(7):1099-104. doi: 10.1093/hmg/7.7.1099. Hum Mol Genet. 1998. PMID: 9618166

10

Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.

Greinwald JH Jr, Wayne S, Chen AH, Scott DA, Zbar RI, Kraft ML, Prasad S, Ramesh A, Coucke P, Srisailapathy CR, Lovett M, Van Camp G, Smith RJ. Greinwald JH Jr, et al. Am J Med Genet. 1998 Jun 30;78(2):107-13. Am J Med Genet. 1998. PMID: 9674898

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