Literature DB >> 20086306

A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients.

Mohammad Hamid1, Morteza Karimipoor, Morteza Hashemzadeh Chaleshtori, Mohammad Taghi Akbari.   

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Year:  2009        PMID： 20086306     DOI： 10.1007/s12041-009-0054-6

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  17 in total

1.  Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Authors:  S Abe; S Usami; H Shinkawa; P M Kelley; W J Kimberling
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

2.  GJB2 mutations: passage through Iran.

Authors:  Hossein Najmabadi; Carla Nishimura; Kimia Kahrizi; Yasser Riazalhosseini; Mahdi Malekpour; Ahmad Daneshi; Mohammad Farhadi; Marzieh Mohseni; Nejat Mahdieh; Ahmad Ebrahimi; Niloofar Bazazzadegan; Anoosh Naghavi; Matthew Avenarius; Sanaz Arzhangi; Richard J H Smith
Journal:  Am J Med Genet A       Date:  2005-03-01       Impact factor: 2.802

3.  A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

Authors:  I Lerer; M Sagi; Z Ben-Neriah; T Wang; H Levi; D Abeliovich
Journal:  Hum Mutat       Date:  2001-11       Impact factor: 4.878

4.  Molecular cloning and functional expression of mouse connexin-30,a gap junction gene highly expressed in adult brain and skin.

Authors:  E Dahl; D Manthey; Y Chen; H J Schwarz; Y S Chang; P A Lalley; B J Nicholson; K Willecke
Journal:  J Biol Chem       Date:  1996-07-26       Impact factor: 5.157

5.  Connexin 26 35delG does not represent a mutational hotspot.

Authors:  Caryn R Rothrock; Alessandra Murgia; Edi L Sartorato; Emanuela Leonardi; Sainan Wei; Sarah L Lebeis; Laura E Yu; Jill L Elfenbein; Rachel A Fisher; Karen H Friderici
Journal:  Hum Genet       Date:  2003-04-09       Impact factor: 4.132

6.  High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.

Authors:  Araceli Alvarez; Ignacio del Castillo; Manuela Villamar; Luis A Aguirre; Anna González-Neira; Alicia López-Nevot; Miguel A Moreno-Pelayo; Felipe Moreno
Journal:  Am J Med Genet A       Date:  2005-09-01       Impact factor: 2.802

7.  Opposite voltage gating polarities of two closely related connexins.

Authors:  V K Verselis; C S Ginter; T A Bargiello
Journal:  Nature       Date:  1994-03-24       Impact factor: 49.962

8.  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

9.  The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.

Authors:  Barbara Günther; Andrea Steiner; Doris Nekahm-Heis; Klaus Albegger; Patrick Zorowka; Gerd Utermann; Andreas Janecke
Journal:  Hum Mutat       Date:  2003-08       Impact factor: 4.878

10.  Connexin-26 mutations in sporadic and inherited sensorineural deafness.

Authors:  X Estivill; P Fortina; S Surrey; R Rabionet; S Melchionda; L D'Agruma; E Mansfield; E Rappaport; N Govea; M Milà; L Zelante; P Gasparini
Journal:  Lancet       Date:  1998-02-07       Impact factor: 79.321
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  5 in total

1.  Prevalence of GJB2 gene mutations correlated to presence of clinical and environmental risk factors in the etiology of congenital sensorineural hearing loss of the Romanian population.

Authors:  Alexandra Neagu; Adela-Ioana Mocanu; Alexandru Bonciu; Gabriella Coadă; Horia Mocanu
Journal:  Exp Ther Med       Date:  2021-04-14       Impact factor: 2.447

Review 2.  Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

Authors:  Maryam Beheshtian; Mojgan Babanejad; Hela Azaiez; Niloofar Bazazzadegan; Diana Kolbe; Christina Sloan-Heggen; Sanaz Arzhangi; Kevin Booth; Marzieh Mohseni; Kathy Frees; Mohammad Hossein Azizi; Ahmad Daneshi; Mohammad Farhadi; Kimia Kahrizi; Richard Jh Smith; Hossein Najmabadi
Journal:  Arch Iran Med       Date:  2016-10-01       Impact factor: 1.354

3.  GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.

Authors:  Sirous Zeinali; Elham Davoudi-Dehaghani; Sarah Azadmehr; Samira DabbaghBagheri; Hamideh Bagherian; Mojdeh Jamali; Fatemeh Zafarghandimotlagh; Mahboobeh Masoodifard; Ameneh BandehiSarhaddi; Leili Rejali; Sepideh Sahebi
Journal:  Eur Arch Otorhinolaryngol       Date:  2014-07-11       Impact factor: 2.503

4.  A Novel De Novo Dominant Mutation in GJB2 Gene Associated with a Sporadic Case of Nonsyndromic Sensorineural Hearing Loss.

Authors:  Habib Onsori; Mohammad Rahmati; Davood Fazli
Journal:  Iran J Public Health       Date:  2014-12       Impact factor: 1.429

Review 5.  Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations.

Authors:  Mahbobeh Koohiyan; Fatemeh Azadegan-Dehkordi; Farideh Koohian; Morteza Hashemzadeh-Chaleshtori
Journal:  J Audiol Otol       Date:  2019-06-27
  5 in total

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