Smith RJ - Search Results

1

A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.

Jain PK, Lalwani AK, Li XC, Singleton TL, Smith TN, Chen A, Deshmukh D, Verma IC, Smith RJ, Wilcox ER. Jain PK, et al. Among authors: smith rj, smith tn. Genomics. 1998 Jun 1;50(2):290-2. doi: 10.1006/geno.1998.5320. Genomics. 1998. PMID: 9653658

2

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Bork JM, et al. Among authors: smith rj. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub 2000 Nov 21. Am J Hum Genet. 2001. PMID: 11090341 Free PMC article.

3

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJ, Wilcox ER. Naz S, et al. Among authors: smith rj. Am J Hum Genet. 2002 Sep;71(3):632-6. doi: 10.1086/342193. Epub 2002 Jul 24. Am J Hum Genet. 2002. PMID: 12145746 Free PMC article.

4

Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.

Pusch CM, Meyer B, Kupka S, Smith RJ, Lalwani AK, Zenner HP, Blin N, Nürnberg P, Pfister M. Pusch CM, et al. Among authors: smith rj. J Mol Med (Berl). 2004 Jun;82(6):398-402. doi: 10.1007/s00109-004-0538-z. Epub 2004 Mar 24. J Mol Med (Berl). 2004. PMID: 15042303

5

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.

6

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.

Lesperance MM, Hall JW 3rd, Bess FH, Fukushima K, Jain PK, Ploplis B, San Agustin TB, Skarka H, Smith RJ, Wills M, et al. Lesperance MM, et al. Among authors: smith rj. Hum Mol Genet. 1995 Oct;4(10):1967-72. doi: 10.1093/hmg/4.10.1967. Hum Mol Genet. 1995. PMID: 8595423

7

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

8

Localization of Usher syndrome type II to chromosome 1q.

Kimberling WJ, Weston MD, Möller C, Davenport SL, Shugart YY, Priluck IA, Martini A, Milani M, Smith RJ. Kimberling WJ, et al. Among authors: smith rj. Genomics. 1990 Jun;7(2):245-9. doi: 10.1016/0888-7543(90)90546-7. Genomics. 1990. PMID: 2347588

9

Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13.

McGuirt WT, Lesperance MM, Wilcox ER, Chen AH, Van Camp G, Smith RJ. McGuirt WT, et al. Among authors: smith rj. Adv Otorhinolaryngol. 2000;56:84-96. doi: 10.1159/000059085. Adv Otorhinolaryngol. 2000. PMID: 10868218 Review. No abstract available.

10

Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium.

Keats BJ, Todorov AA, Atwood LD, Pelias MZ, Hejtmancik JF, Kimberling WJ, Leppert M, Lewis RA, Smith RJ. Keats BJ, et al. Among authors: smith rj. Genomics. 1992 Nov;14(3):707-14. doi: 10.1016/s0888-7543(05)80172-7. Genomics. 1992. PMID: 1427898

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

2,312 results

Search Page

Filters