Yang T - 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. 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: yang t. 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

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: yang t. 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.

4

Genetic heterogeneity of deafness phenotypes linked to DFNA4.

Yang T, Pfister M, Blin N, Zenner HP, Pusch CM, Smith RJ. Yang T, et al. 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

5

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ. Yang T, et al. Am J Hum Genet. 2007 Jun;80(6):1055-63. doi: 10.1086/518314. Epub 2007 Apr 23. Am J Hum Genet. 2007. PMID: 17503324 Free PMC article.

6

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

Hildebrand MS, Coman D, Yang T, Gardner RJ, Rose E, Smith RJ, Bahlo M, Dahl HH. Hildebrand MS, et al. Among authors: yang t. Am J Med Genet A. 2007 Jul 15;143A(14):1599-604. doi: 10.1002/ajmg.a.31860. Am J Med Genet A. 2007. PMID: 17568404

7

Genotype-phenotype correlations for SLC26A4-related deafness.

Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ. Azaiez H, et al. Among authors: yang t. Hum Genet. 2007 Dec;122(5):451-7. doi: 10.1007/s00439-007-0415-2. Epub 2007 Aug 10. Hum Genet. 2007. PMID: 17690912 Free PMC article.

8

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen MB, Goossens D, Favero JD, Sanati MH, Smith RJ, Van Camp G. Hilgert N, et al. Among authors: yang t. Clin Genet. 2008 Sep;74(3):223-32. doi: 10.1111/j.1399-0004.2008.01053.x. Epub 2008 Jul 9. Clin Genet. 2008. PMID: 18616530 Free PMC article.

9

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

Yang T, Gurrola JG 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ. Yang T, et al. Am J Hum Genet. 2009 May;84(5):651-7. doi: 10.1016/j.ajhg.2009.04.014. Epub 2009 May 7. Am J Hum Genet. 2009. PMID: 19426954 Free PMC article.

10

The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?

Yang T, Smith RJ. Yang T, et al. Hum Mutat. 2009 Oct;30(10):1469-70; author reply 1471. doi: 10.1002/humu.21097. Hum Mutat. 2009. PMID: 19787632 No abstract available.

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