Literature DB >> 18924167

A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma.

Yongyi Yuan1, Deliang Huang, Fei Yu, Xiuhui Zhu, Dongyang Kang, Huijun Yuan, Dongyi Han, Pu Dai.   

Abstract

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Year:  2009        PMID： 18924167     DOI： 10.1002/ajmg.a.32461

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

1.  Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.

Authors:  Jae Yeol Lee; Sung-Il In; Hyon J Kim; Seon-Yong Jeong; Yun Hoon Choung; You Chan Kim
Journal:  J Korean Med Sci       Date:  2010-09-17       Impact factor: 2.153

Review 2.  Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

Authors:  Niloofar Bazazzadegan; Abraham M Sheffield; Masoomeh Sobhani; Kimia Kahrizi; Nicole C Meyer; Guy Van Camp; Nele Hilgert; Seyedeh Sedigheh Abedini; Farkhondeh Habibi; Ahmad Daneshi; Carla Nishimura; Matthew R Avenarius; Mohammad Farhadi; Richard J H Smith; Hossein Najmabadi
Journal:  Am J Med Genet A       Date:  2011-04-11       Impact factor: 2.802

3.  Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Authors:  Andrea M Oza; Marina T DiStefano; Sarah E Hemphill; Brandon J Cushman; Andrew R Grant; Rebecca K Siegert; Jun Shen; Alex Chapin; Nicole J Boczek; Lisa A Schimmenti; Jaclyn B Murry; Linda Hasadsri; Kiyomitsu Nara; Margaret Kenna; Kevin T Booth; Hela Azaiez; Andrew Griffith; Karen B Avraham; Hannie Kremer; Heidi L Rehm; Sami S Amr; Ahmad N Abou Tayoun
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

4.  GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

Authors:  Sandra Iossa; Elio Marciano; Annamaria Franzé
Journal:  Curr Genomics       Date:  2011-11       Impact factor: 2.236

5.  The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals.

Authors:  Shasha Huang; Bangqing Huang; Guojian Wang; Yongyi Yuan; Pu Dai
Journal:  PLoS One       Date:  2015-06-10       Impact factor: 3.240

6.  GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

Authors:  Pu Dai; Fei Yu; Bing Han; Xuezhong Liu; Guojian Wang; Qi Li; Yongyi Yuan; Xin Liu; Deliang Huang; Dongyang Kang; Xin Zhang; Huijun Yuan; Kun Yao; Jinsheng Hao; Jia He; Yong He; Youqin Wang; Qing Ye; Youjun Yu; Hongyan Lin; Lijia Liu; Wei Deng; Xiuhui Zhu; Yiwen You; Jinghong Cui; Nongsheng Hou; Xuehai Xu; Jin Zhang; Liang Tang; Rendong Song; Yongjun Lin; Shuanzhu Sun; Ruining Zhang; Hao Wu; Yuebing Ma; Shanxiang Zhu; Bai-Lin Wu; Dongyi Han; Lee-Jun C Wong
Journal:  J Transl Med       Date:  2009-04-14       Impact factor: 5.531

7.  Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.

Authors:  Shasha Huang; Xue Gao; Yufeng Wang; Dongyang Kang; Xin Zhang; Suyan Yang; Pu Dai
Journal:  Biomed Res Int       Date:  2020-01-21       Impact factor: 3.411
  7 in total

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