Literature DB >> 11584050

Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.

M Mustapha, N Salem, V Delague, E Chouery, M Ghassibeh, M Rai, J Loiselet, C Petit, A Mégarbané.   

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Year:  2001        PMID： 11584050      PMCID： PMC1734738          DOI： 10.1136/jmg.38.10.e36

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


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  12 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.  Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation.

Authors:  Jiann-Jou Yang; Wen-Hung Wang; Yen-Chun Lin; Hsu-Huei Weng; Jen-Tsung Yang; Chung-Feng Hwang; Che-Min Wu; Shuan-Yow Li
Journal:  Hum Genet       Date:  2010-07-01       Impact factor: 4.132

3.  Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.

Authors:  Vassos Neocleous; Constantina Costi; Christos Shammas; Elena Spanou; Violetta Anastasiadou; George A Tanteles; Leonidas A Phylactou
Journal:  J Genet       Date:  2014-08       Impact factor: 1.166

4.  GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution.

Authors:  Nejat Mahdieh; Hamdollah Mahmoudi; Soleiman Ahmadzadeh; Salar Bakhtiyari
Journal:  Eur Arch Otorhinolaryngol       Date:  2015-06-10       Impact factor: 2.503

5.  Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss.

Authors:  Seyed Basir Hashemi; Mohamad Javad Ashraf; Mohamad Saboori; Negar Azarpira; Masumeh Darai
Journal:  Mol Biol Rep       Date:  2012-10-17       Impact factor: 2.316

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.  Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Authors:  Sobia Shafique; Saima Siddiqi; Margit Schraders; Jaap Oostrik; Humaira Ayub; Ammad Bilal; Muhammad Ajmal; Celia Zazo Seco; Tim M Strom; Atika Mansoor; Kehkashan Mazhar; Syed Tahir A Shah; Alamdar Hussain; Maleeha Azam; Hannie Kremer; Raheel Qamar
Journal:  PLoS One       Date:  2014-06-20       Impact factor: 3.240

8.  [Etiologic profile of severe and profound sensorineural hearing loss in children in the region of north-central Morocco].

Authors:  Mohammed Ridal; Naouar Outtasi; Zainab Taybi; Redouan Boulouiz; Sanae Chaouki; Meryem Boubou; Mustapha Maaroufi; Najib Benmansour; Zouheir Zaki; Karim Ouldim; Hamid Barakat; Mustapha Hida; Siham Tizniti; Mohamed Noreddine El Alami
Journal:  Pan Afr Med J       Date:  2014-02-08

9.  GJB2 Mutations Linked to Hearing Loss Exhibit Differential Trafficking and Functional Defects as Revealed in Cochlear-Relevant Cells.

Authors:  Rianne Beach; Julia M Abitbol; Brian L Allman; Jessica L Esseltine; Qing Shao; Dale W Laird
Journal:  Front Cell Dev Biol       Date:  2020-04-02

10.  Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.

Authors:  Athar Khalil; Samer Bou Karroum; Rana Barake; Gabriel Dunya; Samer Abou-Rizk; Amina Kamar; Georges Nemer; Marc Bassim
Journal:  BMC Med Genet       Date:  2020-01-02       Impact factor: 2.103
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