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Results: 8

1.

Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G>A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss.

Fan D, Zhu W, Li D, Ji D, Wang P.

PLoS One. 2014 Dec 4;9(12):e114136. doi: 10.1371/journal.pone.0114136. eCollection 2014.

PMID:
25474651
[PubMed - in process]
Free PMC Article
2.

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

Ganapathy A, Pandey N, Srisailapathy CR, Jalvi R, Malhotra V, Venkatappa M, Chatterjee A, Sharma M, Santhanam R, Chadha S, Ramesh A, Agarwal AK, Rangasayee RR, Anand A.

PLoS One. 2014 Jan 8;9(1):e84773. doi: 10.1371/journal.pone.0084773. eCollection 2014.

PMID:
24416283
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.

Abdelfatah N, McComiskey DA, Doucette L, Griffin A, Moore SJ, Negrijn C, Hodgkinson KA, King JJ, Larijani M, Houston J, Stanton SG, Young TL.

Eur J Hum Genet. 2013 Oct;21(10):1112-9. doi: 10.1038/ejhg.2013.5. Epub 2013 Feb 27.

PMID:
23443030
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H, Kunst HP.

J Assoc Res Otolaryngol. 2011 Dec;12(6):753-66. doi: 10.1007/s10162-011-0282-3. Epub 2011 Jul 23.

PMID:
21786053
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

Lee K, Khan S, Islam A, Ansar M, Andrade PB, Kim S, Santos-Cortez RL, Ahmad W, Leal SM.

Clin Genet. 2012 Jul;82(1):56-63. doi: 10.1111/j.1399-0004.2011.01695.x. Epub 2011 May 25.

PMID:
21534946
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.

Fasquelle L, Scott HS, Lenoir M, Wang J, Rebillard G, Gaboyard S, Venteo S, Fran├žois F, Mausset-Bonnefont AL, Antonarakis SE, Neidhart E, Chabbert C, Puel JL, Guipponi M, Delprat B.

J Biol Chem. 2011 May 13;286(19):17383-97. doi: 10.1074/jbc.M110.190652. Epub 2011 Mar 21.

PMID:
21454591
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL.

Eur J Hum Genet. 2009 May;17(5):554-64. doi: 10.1038/ejhg.2008.231. Epub 2008 Dec 24. Erratum in: Eur J Hum Genet. 2009 Oct;17(10):1363. Shotland, Larry [corrected to Shotland, Lawrence I]; Li, X C [corrected to Li, Xiaoyan Cindy].

PMID:
19107147
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12.

Shaikh RS, Ramzan K, Nazli S, Sattar S, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Riazuddin S.

Am J Med Genet A. 2005 Nov 1;138(4):392-5. No abstract available.

PMID:
16158433
[PubMed - indexed for MEDLINE]
Free PMC Article

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