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Items: 1 to 20 of 27

1.

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Pallares-Ruiz N, Blanchet P, Mondain M, Claustres M, Roux AF.

Eur J Hum Genet. 2002 Jan;10(1):72-6.

2.

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Rabionet R, Gasparini P, Estivill X.

Hum Mutat. 2000 Sep;16(3):190-202. Review.

PMID:
10980526
3.

The genetics of deafness.

Nance WE.

Ment Retard Dev Disabil Res Rev. 2003;9(2):109-19. Review.

PMID:
12784229
4.

Non-syndromic, autosomal-recessive deafness.

Petersen MB, Willems PJ.

Clin Genet. 2006 May;69(5):371-92. Review.

PMID:
16650073
5.

[Non-syndromic hereditary hearing impairment].

Birkenhäger R, Aschendorff A, Schipper J, Laszig R.

Laryngorhinootologie. 2007 Apr;86(4):299-309; quiz 310-3. Review. German.

PMID:
17407011
6.
7.

Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene.

Tekin M, Duman T, Boğoçlu G, Incesulu A, Cin S, Akar N.

Genet Couns. 2003;14(4):379-86. Review.

PMID:
14738110
8.

Relevance of connexin deafness (DFNB1) to human evolution.

Nance WE, Kearsey MJ.

Am J Hum Genet. 2004 Jun;74(6):1081-7. Epub 2004 Apr 9. Review.

9.

Deafness genes for nonsyndromic hearing loss and current studies in China.

Xiao Z, Xie D.

Chin Med J (Engl). 2002 Jul;115(7):1078-81. Review.

PMID:
12173596
10.

Hereditary deafness and phenotyping in humans.

Bitner-Glindzicz M.

Br Med Bull. 2002;63:73-94. Review.

PMID:
12324385
11.

Connexin 26 mutations in autosomal recessive deafness disorders: a review.

Apps SA, Rankin WA, Kurmis AP.

Int J Audiol. 2007 Feb;46(2):75-81. Review.

PMID:
17365058
12.

[Hearing loss associated with GJB2 gene mutation].

Cui Q, Huang L.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2013 Oct;27(19):1099-102. Review. Chinese.

PMID:
24417175
13.
14.

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Giannoulia-Karantana A, Kandiloros D, Korres S, Petersen MB.

J Hum Genet. 2010 May;55(5):265-9. doi: 10.1038/jhg.2010.23. Epub 2010 Mar 19. Review.

PMID:
20300122
15.

Gap-junction channels dysfunction in deafness and hearing loss.

Martínez AD, Acuña R, Figueroa V, Maripillan J, Nicholson B.

Antioxid Redox Signal. 2009 Feb;11(2):309-22. doi: 10.1089/ars.2008.2138. Review.

16.

The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.

del Castillo FJ, del Castillo I.

Front Biosci (Landmark Ed). 2011 Jun 1;16:3252-74. Review.

PMID:
21622233
17.

[Genes of connexin proteins participating in sound perception].

Dzhemileva LU, Grinberg ER, Khabibullin RM, Khusnutdinova EK.

Vestn Otorinolaringol. 2006;(4):15-20. Review. Russian.

PMID:
17152467
18.

Connexin mutations in hearing loss, dermatological and neurological disorders.

Rabionet R, López-Bigas N, Arbonès ML, Estivill X.

Trends Mol Med. 2002 May;8(5):205-12. Review.

PMID:
12067629
19.

Genetics of hearing impairment.

Hone SW, Smith RJ.

Semin Neonatol. 2001 Dec;6(6):531-41. Review.

PMID:
12014894
20.

Deafness genes in Israel: implications for diagnostics in the clinic.

Brownstein Z, Avraham KB.

Pediatr Res. 2009 Aug;66(2):128-34. doi: 10.1203/PDR.0b013e3181aabd7f. Review.

PMID:
19390476

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