Literature DB >> 9422505

Connexin mutations and hearing loss.

D A Scott, M L Kraft, E M Stone, V C Sheffield, R J Smith.   

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Year:  1998        PMID： 9422505     DOI： 10.1038/34079

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  11 in total

Review 1.  Connexin mutations in skin disease and hearing loss.

Authors:  D P Kelsell; W L Di; M J Houseman
Journal:  Am J Hum Genet       Date:  2001-01-25       Impact factor: 11.025

2.  A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.

Authors:  Juan R González; Wenyi Wang; Ester Ballana; Xavier Estivill
Journal:  Hum Mutat       Date:  2006-11       Impact factor: 4.878

3.  Cx26 deafness: mutation analysis and clinical variability.

Authors:  A Murgia; E Orzan; R Polli; M Martella; C Vinanzi; E Leonardi; E Arslan; F Zacchello
Journal:  J Med Genet       Date:  1999-11       Impact factor: 6.318

4.  Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

Authors:  A J Griffith; A A Chowdhry; K Kurima; L J Hood; B Keats; C I Berlin; R J Morell; T B Friedman
Journal:  Am J Hum Genet       Date:  2000-07-19       Impact factor: 11.025

5.  Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

Authors:  P M Kelley; D J Harris; B C Comer; J W Askew; T Fowler; S D Smith; W J Kimberling
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

6.  Analysis of Genetic Variations in Connexin 26 ( GJB2 ) Gene among Nonsyndromic Hearing Impairment: Familial Study.

Authors:  Smita Hegde; Rajat Hegde; Suyamindra S Kulkarni; Kusal K Das; Pramod B Gai; Rudragouda S Bulagouda
Journal:  Glob Med Genet       Date:  2022-06-13

7.  GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.

Authors:  Elif Baysal; Yildirim A Bayazit; Serdar Ceylaner; Necat Alatas; Buket Donmez; Gulay Ceylaner; Imran San; Baki Korkmaz; Akin Yilmaz; Adnan Menevse; Senay Altunyay; Bulent Gunduz; Nebil Goksu; Ahmet Arslan; Abdullah Ekmekci
Journal:  J Genet       Date:  2008-04       Impact factor: 1.166

Review 8.  The genetic bases for non-syndromic hearing loss among Chinese.

Authors:  Xiao Mei Ouyang; Denise Yan; Hui Jun Yuan; Dai Pu; Li Lin Du; Don Yi Han; Xue Zhong Liu
Journal:  J Hum Genet       Date:  2009-02-06       Impact factor: 3.172

9.  Altered CO2 sensitivity of connexin26 mutant hemichannels in vitro.

Authors:  Elizabeth de Wolf; Joseph van de Wiel; Jonathan Cook; Nicholas Dale
Journal:  Physiol Rep       Date:  2016-11

10.  Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.

Authors:  Felippe Felix; Marcia Gonçalves Ribeiro; Shiro Tomita; Mariano Gustavo Zalis
Journal:  Braz J Otorhinolaryngol       Date:  2017-11-21
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