Smith RJ - Search Results

1

A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.

Yang T, Kahrizi K, Bazazzadeghan N, Meyer N, Najmabadi H, Smith RJ. Yang T, et al. Among authors: smith rj. Clin Genet. 2010 Apr;77(4):395-8. doi: 10.1111/j.1399-0004.2009.01338.x. Clin Genet. 2010. PMID: 20447146 Free PMC article. No abstract available.

2

Autosomal dominant nonsyndromic hearing impairment.

Van Laer L, McGuirt WT, Yang T, Smith RJ, Van Camp G. Van Laer L, et al. Among authors: smith rj. Am J Med Genet. 1999 Sep 24;89(3):167-74. doi: 10.1002/(sici)1096-8628(19990924)89:3<167::aid-ajmg7>3.3.co;2-m. Am J Med Genet. 1999. PMID: 10704191 Review.

3

Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.

Kasai N, Fukushima K, Ueki Y, Prasad S, Nosakowski J, Sugata K, Sugata A, Nishizaki K, Meyer NC, Smith RJ. Kasai N, et al. Among authors: smith rj. Gene. 2001 Feb 7;264(1):113-22. doi: 10.1016/s0378-1119(00)00594-1. Gene. 2001. PMID: 11245985

4

GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.

Najmabadi H, Cucci RA, Sahebjam S, Kouchakian N, Farhadi M, Kahrizi K, Arzhangi S, Daneshmandan N, Javan K, Smith RJ. Najmabadi H, et al. Among authors: smith rj. Hum Mutat. 2002 May;19(5):572. doi: 10.1002/humu.9033. Hum Mutat. 2002. PMID: 11968091

5

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH. Zhu M, et al. Among authors: smith rj. Am J Hum Genet. 2003 Nov;73(5):1082-91. doi: 10.1086/379286. Epub 2003 Sep 16. Am J Hum Genet. 2003. PMID: 13680526 Free PMC article.

6

The frequency of GJB2 mutations and the Delta (GJB6-D13S1830) deletion as a cause of autosomal recessive non-syndromic deafness in the Kurdish population.

Mahdieh N, Nishimura C, Ali-Madadi K, Riazalhosseini Y, Yazdan H, Arzhangi S, Jalalvand K, Ebrahimi A, Kazemi S, Smith RJ, Najmabadi H. Mahdieh N, et al. Among authors: smith rj. Clin Genet. 2004 Jun;65(6):506-8. doi: 10.1111/j.1399-0004.2004.00262.x. Clin Genet. 2004. PMID: 15151513 No abstract available.

7

GJB2 mutations: passage through Iran.

Najmabadi H, Nishimura C, Kahrizi K, Riazalhosseini Y, Malekpour M, Daneshi A, Farhadi M, Mohseni M, Mahdieh N, Ebrahimi A, Bazazzadegan N, Naghavi A, Avenarius M, Arzhangi S, Smith RJ. Najmabadi H, et al. Among authors: smith rj. Am J Med Genet A. 2005 Mar 1;133A(2):132-7. doi: 10.1002/ajmg.a.30576. Am J Med Genet A. 2005. PMID: 15666300

8

Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data.

Leykin I, Hao K, Cheng J, Meyer N, Pollak MR, Smith RJ, Wong WH, Rosenow C, Li C. Leykin I, et al. Among authors: smith rj. BMC Genet. 2005 Feb 15;6:7. doi: 10.1186/1471-2156-6-7. BMC Genet. 2005. PMID: 15713228 Free PMC article.

9

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.

Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJ. Chen W, et al. Among authors: smith rj. J Med Genet. 2005 Oct;42(10):e61. doi: 10.1136/jmg.2005.032615. Epub 2005 Jul 20. J Med Genet. 2005. PMID: 16033917 Free PMC article.

10

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

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