Smith RJ - Search Results

1

Mutations in LOXHD1 gene cause various types and severities of hearing loss.

Mori K, Moteki H, Kobayashi Y, Azaiez H, Booth KT, Nishio SY, Sato H, Smith RJ, Usami S. Mori K, et al. Among authors: smith rj. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1(1 0):135S-41S. doi: 10.1177/0003489415574067. Epub 2015 Mar 19. Ann Otol Rhinol Laryngol. 2015. PMID: 25792669 Free PMC article.

2

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.

3

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

4

Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.

Marietta J, Walters KS, Burgess R, Ni L, Fukushima K, Moore KC, Hejtmancik JF, Smith RJ. Marietta J, et al. Among authors: smith rj. Ann Otol Rhinol Laryngol. 1997 Feb;106(2):123-8. doi: 10.1177/000348949710600206. Ann Otol Rhinol Laryngol. 1997. PMID: 9041816

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

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

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