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Results: 8

1.

A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family.

Zhao Y, Wang D, Zong L, Zhao F, Guan L, Zhang P, Shi W, Lan L, Wang H, Li Q, Han B, Yang L, Jin X, Wang J, Wang J, Wang Q.

PLoS One. 2014 May 14;9(5):e97064. doi: 10.1371/journal.pone.0097064. eCollection 2014.

PMID:
24827932
[PubMed - in process]
Free PMC Article
2.

Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.

Gao X, Su Y, Guan LP, Yuan YY, Huang SS, Lu Y, Wang GJ, Han MY, Yu F, Song YS, Zhu QY, Wu J, Dai P.

PLoS One. 2013 May 14;8(5):e63026. doi: 10.1371/journal.pone.0063026. Print 2013.

PMID:
23690975
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D, Tekin M.

Front Biosci (Landmark Ed). 2012 Jun 1;17:2213-36. Review.

PMID:
22652773
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes.

Kawashima Y, Géléoc GS, Kurima K, Labay V, Lelli A, Asai Y, Makishima T, Wu DK, Della Santina CC, Holt JR, Griffith AJ.

J Clin Invest. 2011 Dec;121(12):4796-809. doi: 10.1172/JCI60405. Epub 2011 Nov 21.

PMID:
22105175
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.

Hildebrand MS, Kahrizi K, Bromhead CJ, Shearer AE, Webster JA, Khodaei H, Abtahi R, Bazazzadegan N, Babanejad M, Nikzat N, Kimberling WJ, Stephan D, Huygen PL, Bahlo M, Smith RJ, Najmabadi H.

Ann Otol Rhinol Laryngol. 2010 Dec;119(12):830-5.

PMID:
21250555
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

Clin Genet. 2010 Apr;77(4):395-8. doi: 10.1111/j.1399-0004.2009.01338.x. No abstract available.

PMID:
20447146
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Function and expression pattern of nonsyndromic deafness genes.

Hilgert N, Smith RJ, Van Camp G.

Curr Mol Med. 2009 Jun;9(5):546-64. Review.

PMID:
19601806
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.

Hilgert N, Monahan K, Kurima K, Li C, Friedman RA, Griffith AJ, Van Camp G.

J Hum Genet. 2009 Mar;54(3):188-90. doi: 10.1038/jhg.2009.1. Epub 2009 Jan 30.

PMID:
19180119
[PubMed - indexed for MEDLINE]
Free PMC Article

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