Literature DB >> 18776652

GJB2 mutations in Baluchi population.

Anoosh Naghavi1, Carla Nishimura, Kimia Kahrizi, Yasser Riazalhosseini, Niloofar Bazazzadegan, Marzieh Mohseni, Richard J H Smith, Hossein Najmabadi.   

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Year:  2008        PMID: 18776652     DOI: 10.1007/s12041-008-0031-5

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


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  20 in total

1.  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

2.  A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.

Authors:  Ignacio del Castillo; Manuela Villamar; Miguel A Moreno-Pelayo; Francisco J del Castillo; Araceli Alvarez; Dolores Tellería; Ibis Menéndez; Felipe Moreno
Journal:  N Engl J Med       Date:  2002-01-24       Impact factor: 91.245

3.  Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.

Authors:  K A Brown; A H Janjua; G Karbani; G Parry; A Noble; G Crockford; D T Bishop; V E Newton; A F Markham; R F Mueller
Journal:  Hum Mol Genet       Date:  1996-01       Impact factor: 6.150

4.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

5.  The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.

Authors:  T Sobe; S Vreugde; H Shahin; M Berlin; N Davis; M Kanaan; Y Yaron; A Orr-Urtreger; M Frydman; M Shohat; K B Avraham
Journal:  Hum Genet       Date:  2000-01       Impact factor: 4.132

6.  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

Review 7.  The genetics of deafness.

Authors:  Walter E Nance
Journal:  Ment Retard Dev Disabil Res Rev       Date:  2003

8.  High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

Authors:  P Gasparini; R Rabionet; G Barbujani; S Melçhionda; M Petersen; K Brøndum-Nielsen; A Metspalu; E Oitmaa; M Pisano; P Fortina; L Zelante; X Estivill
Journal:  Eur J Hum Genet       Date:  2000-01       Impact factor: 4.246

9.  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

10.  Molecular epidemiology of DFNB1 deafness in France.

Authors:  Anne-Françoise Roux; Nathalie Pallares-Ruiz; Anne Vielle; Valérie Faugère; Carine Templin; Dorothée Leprevost; Françoise Artières; Geneviève Lina; Nicolas Molinari; Patricia Blanchet; Michel Mondain; Mireille Claustres
Journal:  BMC Med Genet       Date:  2004-03-06       Impact factor: 2.103

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  7 in total

Review 1.  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

2.  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

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.  Identification of homozygous mutations for hearing loss.

Authors:  Mehdi Dianatpour; Emily Smith; Seyed Basir Hashemi; Mohammad A Farazifard; Navid Nezafat; Vahid Razban; Arya Mani
Journal:  Gene       Date:  2021-01-29       Impact factor: 3.688

5.  Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss.

Authors:  Marjan Masoudi; Najmeh Ahangari; Ali Akbar Poursadegh Zonouzi; Ahmad Poursadegh Zonouzi; Azim Nejatizadeh
Journal:  Iran J Public Health       Date:  2016-05       Impact factor: 1.429

Review 6.  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

7.  GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.

Authors:  Ehsan Abbaspour Rodbaneh; Mohammad Panahi; Bahareh Rahimi; Haleh Mokabber; Reza Farajollahi; Behzad Davarnia
Journal:  J Clin Lab Anal       Date:  2021-09-28       Impact factor: 2.352

  7 in total

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