Literature DB >> 11494963

Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families.

S Rickard, D P Kelsell, T Sirimana, K Rajput, B MacArdle, M Bitner-Glindzicz.   

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Year:  2001        PMID： 11494963      PMCID： PMC1734923          DOI： 10.1136/jmg.38.8.530

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

1.  Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

Authors:  R L P Santos; M Wajid; T L Pham; J Hussan; G Ali; W Ahmad; S M Leal
Journal:  Clin Genet       Date:  2005-01       Impact factor: 4.438

2.  A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.

Authors:  Demet Tekin; Denise Yan; Guney Bademci; Yong Feng; Shengru Guo; Joseph Foster; Susan Blanton; Mustafa Tekin; Xuezhong Liu
Journal:  Hear Res       Date:  2016-02-02       Impact factor: 3.208

3.  Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.

Authors:  Gülistan Meşe; Eric Londin; Rickie Mui; Peter R Brink; Thomas W White
Journal:  Hum Genet       Date:  2004-07-07       Impact factor: 4.132

4.  Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.

Authors:  Xue-Zhong Liu; Yongyi Yuan; Denise Yan; Emilie Hong Ding; Xiao Mei Ouyang; Yu Fei; Wenxue Tang; Huijun Yuan; Qing Chang; Li Lin Du; Xin Zhang; Guojian Wang; Shoeb Ahmad; Dong Yang Kang; Xi Lin; Pu Dai
Journal:  Hum Genet       Date:  2008-12-03       Impact factor: 4.132

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

Authors:  Denise Yan; Hong-Joon Park; Xiao Mei Ouyang; Arti Pandya; Katsumi Doi; Raadnabazar Erdenetungalag; Li Lin Du; Naoki Matsushiro; Walter E Nance; Andrew J Griffith; Xue Zhong Liu
Journal:  Hum Genet       Date:  2003-09-18       Impact factor: 4.132

Review 6.  DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

Authors:  Francisco J Del Castillo; Ignacio Del Castillo
Journal:  Front Mol Neurosci       Date:  2017-12-22       Impact factor: 5.639

7.  Genetics of Hearing Impairment in North-Eastern Romania-A Cost-Effective Improved Diagnosis and Literature Review.

Authors:  Irina Resmerita; Romica Sebastian Cozma; Roxana Popescu; Luminita Mihaela Radulescu; Monica Cristina Panzaru; Lacramioara Ionela Butnariu; Lavinia Caba; Ovidiu-Dumitru Ilie; Eva-Cristiana Gavril; Eusebiu Vlad Gorduza; Cristina Rusu
Journal:  Genes (Basel)       Date:  2020-12-15       Impact factor: 4.096

Review 8.  Molecular genetic landscape of hereditary hearing loss in Pakistan.

Authors:  Sadaf Naz
Journal:  Hum Genet       Date:  2021-07-25       Impact factor: 4.132

Review 9.  Connexinopathies: a structural and functional glimpse.

Authors:  Isaac E García; Pavel Prado; Amaury Pupo; Oscar Jara; Diana Rojas-Gómez; Paula Mujica; Carolina Flores-Muñoz; Jorge González-Casanova; Carolina Soto-Riveros; Bernardo I Pinto; Mauricio A Retamal; Carlos González; Agustín D Martínez
Journal:  BMC Cell Biol       Date:  2016-05-24       Impact factor: 4.241
  9 in total

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