Smith RJ - Search Results

1

Genetic heterogeneity of deafness phenotypes linked to DFNA4.

Yang T, Pfister M, Blin N, Zenner HP, Pusch CM, Smith RJ. Yang T, et al. Among authors: smith rj. Am J Med Genet A. 2005 Nov 15;139(1):9-12. doi: 10.1002/ajmg.a.30989. Am J Med Genet A. 2005. PMID: 16222661

2

Clinical variability and genetic heterogeneity within the Acadian Usher population.

Smith RJ, Pelias MZ, Daiger SP, Keats B, Kimberling W, Hejtmancik JF. Smith RJ, et al. Am J Med Genet. 1992 Aug 1;43(6):964-9. doi: 10.1002/ajmg.1320430612. Am J Med Genet. 1992. PMID: 1415347

3

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

4

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.

Ni L, Wagner MJ, Kimberling WJ, Pembrey ME, Grundfast KM, Kumar S, Daiger SP, Wells DE, Johnson K, Smith RJ. Ni L, et al. Among authors: smith rj. Am J Med Genet. 1994 Jun 1;51(2):176-84. doi: 10.1002/ajmg.1320510222. Am J Med Genet. 1994. PMID: 8092199

5

New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.

Chen A, Wayne S, Bell A, Ramesh A, Srisailapathy CR, Scott DA, Sheffield VC, Van Hauwe P, Zbar RI, Ashley J, Lovett M, Van Camp G, Smith RJ. Chen A, et al. Among authors: smith rj. Am J Med Genet. 1997 Sep 5;71(4):467-71. Am J Med Genet. 1997. PMID: 9286457

6

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. Among authors: smith rj, smith s. Am J Hum Genet. 1997 Oct;61(4):924-7. doi: 10.1086/514892. Am J Hum Genet. 1997. PMID: 9382104 Free PMC article.

7

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. Among authors: smith rj. Am J Med Genet. 1998 Jun 30;78(2):107-13. Am J Med Genet. 1998. PMID: 9674898

8

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Green GE, et al. Among authors: smith rj. JAMA. 1999 Jun 16;281(23):2211-6. doi: 10.1001/jama.281.23.2211. JAMA. 1999. PMID: 10376574

9

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).

McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ. McGuirt WT, et al. Among authors: smith rj. Nat Genet. 1999 Dec;23(4):413-9. doi: 10.1038/70516. Nat Genet. 1999. PMID: 10581026

10

Autosomal recessive nonsyndromic hearing loss.

Sundstrom RA, Van Laer L, Van Camp G, Smith RJ. Sundstrom RA, et al. Among authors: smith rj. Am J Med Genet. 1999 Sep 24;89(3):123-9. doi: 10.1002/(sici)1096-8628(19990924)89:3<123::aid-ajmg2>3.0.co;2-p. Am J Med Genet. 1999. PMID: 10704186 Review.

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