Smith RJ - Search Results

1

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

Hildebrand MS, Tack D, McMordie SJ, DeLuca A, Hur IA, Nishimura C, Huygen P, Casavant TL, Smith RJ. Hildebrand MS, et al. Among authors: smith rj. Genet Med. 2008 Nov;10(11):797-804. doi: 10.1097/GIM.0b013e318187e106. Genet Med. 2008. PMID: 18941426 Free PMC article.

2

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

3

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.

Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Möller CG, Pelias MZ, Tranebjaerg L. Smith RJ, et al. Am J Med Genet. 1994 Mar 1;50(1):32-8. doi: 10.1002/ajmg.1320500107. Am J Med Genet. 1994. PMID: 8160750

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. 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

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

Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.

Chen AH, Mueller RF, Prasad SD, Greinwald JH Jr, Manaligod J, Muilenburg AC, Verhoeven K, Van Camp G, Smith RJ. Chen AH, et al. Among authors: smith rj. Arch Otolaryngol Head Neck Surg. 1998 Jan;124(1):20-4. doi: 10.1001/archotol.124.1.20. Arch Otolaryngol Head Neck Surg. 1998. PMID: 9440775 Review.

8

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

9

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

10

Maternally inherited nonsyndromic hearing loss.

Friedman RA, Bykhovskaya Y, Sue CM, DiMauro S, Bradley R, Fallis-Cunningham R, Paradies N, Pensak ML, Smith RJ, Groden J, Li XC, Fischel-Ghodsian N. Friedman RA, et al. Among authors: smith rj. Am J Med Genet. 1999 Jun 4;84(4):369-72. doi: 10.1002/(sici)1096-8628(19990604)84:4<369::aid-ajmg12>3.0.co;2-v. Am J Med Genet. 1999. PMID: 10340654

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