Smith RJ - Search Results

1

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL. Taylor KR, et al. Among authors: smith rj. Hum Mutat. 2013 Apr;34(4):539-45. doi: 10.1002/humu.22268. Epub 2013 Feb 19. Hum Mutat. 2013. PMID: 23280582 Free PMC article.

2

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

3

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

4

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.

5

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. Among authors: smith rj. Hum Mol Genet. 1998 Feb;7(2):285-90. doi: 10.1093/hmg/7.2.285. Hum Mol Genet. 1998. PMID: 9425236

6

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.

7

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

8

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.

Fransen E, Verstreken M, Verhagen WI, Wuyts FL, Huygen PL, D'Haese P, Robertson NG, Morton CC, McGuirt WT, Smith RJ, Declau F, Van de Heyning PH, Van Camp G. Fransen E, et al. Among authors: smith rj. Hum Mol Genet. 1999 Aug;8(8):1425-9. doi: 10.1093/hmg/8.8.1425. Hum Mol Genet. 1999. PMID: 10400989

9

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJ, Karniski LP, Sheffield VC. Scott DA, et al. Among authors: smith rj. Hum Mol Genet. 2000 Jul 1;9(11):1709-15. doi: 10.1093/hmg/9.11.1709. Hum Mol Genet. 2000. PMID: 10861298

10

Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).

Prasad S, Cucci RA, Green GE, Smith RJ. Prasad S, et al. Among authors: smith rj. Hum Mutat. 2000 Dec;16(6):502-8. doi: 10.1002/1098-1004(200012)16:6<502::AID-HUMU7>3.0.CO;2-4. Hum Mutat. 2000. PMID: 11102979

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