Literature DB >> 11784272

Auditory function and the M34T allele of connexin 26.

Andrew J Griffith, Thomas B Friedman.   

Abstract

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Year:  2002        PMID： 11784272

Source DB:  PubMed          Journal:  Arch Otolaryngol Head Neck Surg        ISSN： 0886-4470


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  4 in total

1.  A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

Authors:  K Cryns; E Orzan; A Murgia; P L M Huygen; F Moreno; I del Castillo; G Parker Chamberlin; H Azaiez; S Prasad; R A Cucci; E Leonardi; R L Snoeckx; P J Govaerts; P H Van de Heyning; C M Van de Heyning; R J H Smith; G Van Camp
Journal:  J Med Genet       Date:  2004-03       Impact factor: 6.318

2.  The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.

Authors:  Violeta Mikstiene; Audrone Jakaitiene; Jekaterina Byckova; Egle Gradauskiene; Egle Preiksaitiene; Birute Burnyte; Birute Tumiene; Ausra Matuleviciene; Laima Ambrozaityte; Ingrida Uktveryte; Ingrida Domarkiene; Tautvydas Rancelis; Loreta Cimbalistiene; Eugenijus Lesinskas; Vaidutis Kucinskas; Algirdas Utkus
Journal:  BMC Genet       Date:  2016-02-19       Impact factor: 2.797

3.  Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study.

Authors:  Amanda Hall; Marcus Pembrey; Mark Lutman; Colin Steer; Maria Bitner-Glindzicz
Journal:  BMJ Open       Date:  2012-07-31       Impact factor: 2.692

4.  EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

Authors:  Lies H Hoefsloot; Anne-Françoise Roux; Maria Bitner-Glindzicz
Journal:  Eur J Hum Genet       Date:  2013-05-22       Impact factor: 4.246
  4 in total

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