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Items: 12

1.

A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2-q12.3.

Chatterjee A, Jalvi R, Pandey N, Rangasayee R, Anand A.

Hum Genet. 2009 Jan;124(6):669-75. doi: 10.1007/s00439-008-0596-3. Epub 2008 Nov 22.

PMID:
19030898
2.

A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.

Cheng J, Han DY, Dai P, Sun HJ, Tao R, Sun Q, Yan D, Qin W, Wang HY, Ouyang XM, Yang SZ, Cao JY, Feng GY, Du LL, Zhang YZ, Zhai SQ, Yang WY, Liu XZ, He L, Yuan HJ.

Clin Genet. 2007 Nov;72(5):471-7. Epub 2007 Sep 14.

PMID:
17868390
3.

A novel DFNA5 mutation does not cause hearing loss in an Iranian family.

Van Laer L, Meyer NC, Malekpour M, Riazalhosseini Y, Moghannibashi M, Kahrizi K, Vandevelde A, Alasti F, Najmabadi H, Van Camp G, Smith RJ.

J Hum Genet. 2007;52(6):549-52. Epub 2007 Apr 11.

PMID:
17427029
4.

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.

Bischoff AM, Luijendijk MW, Huygen PL, van Duijnhoven G, De Leenheer EM, Oudesluijs GG, Van Laer L, Cremers FP, Cremers CW, Kremer H.

Audiol Neurootol. 2004 Jan-Feb;9(1):34-46.

PMID:
14676472
5.
6.

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians.

Yan D, Park HJ, Ouyang XM, Pandya A, Doi K, Erdenetungalag R, Du LL, Matsushiro N, Nance WE, Griffith AJ, Liu XZ.

Hum Genet. 2003 Dec;114(1):44-50. Epub 2003 Sep 18.

PMID:
14505035
7.

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ.

J Med Genet. 2003 Apr;40(4):242-8.

8.

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

Van Laer L, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad SD, Chamberlin GP, Houseman M, Taylor GR, Van de Heyning CM, Fransen E, Rowland J, Cucci RA, Smith RJ, Van Camp G.

J Med Genet. 2001 Aug;38(8):515-8.

9.

Nonsyndromic hearing impairment is associated with a mutation in DFNA5.

Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G.

Nat Genet. 1998 Oct;20(2):194-7.

PMID:
9771715
10.

Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea.

Van Laer L, Van Camp G, van Zuijlen D, Green ED, Verstreken M, Schatteman I, Van de Heyning P, Balemans W, Coucke P, Greinwald JH, Smith RJ, Huizing E, Willems P.

Eur J Hum Genet. 1997 Nov-Dec;5(6):397-405.

PMID:
9450185
11.

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

van Camp G, Coucke P, Balemans W, van Velzen D, van de Bilt C, van Laer L, Smith RJ, Fukushima K, Padberg GW, Frants RR, et al.

Hum Mol Genet. 1995 Nov;4(11):2159-63.

PMID:
8589696
12.

Genetic epidemiology of hearing impairment.

Morton NE.

Ann N Y Acad Sci. 1991;630:16-31. Review. No abstract available.

PMID:
1952587
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