Literature DB >> 17406097

The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population.

Asli Sirmaci1, Duygu Akcayoz-Duman, Mustafa Tekin.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2006        PMID： 17406097     DOI： 10.1007/BF02935334

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.508


× No keyword cloud information.
  20 in total

1.  Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

Authors:  D P Kelsell; J Dunlop; H P Stevens; N J Lench; J N Liang; G Parry; R F Mueller; I M Leigh
Journal:  Nature       Date:  1997-05-01       Impact factor: 49.962

2.  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

3.  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

4.  A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

Authors:  L Van Laer; P Coucke; R F Mueller; G Caethoven; K Flothmann; S D Prasad; G P Chamberlin; M Houseman; G R Taylor; C M Van de Heyning; E Fransen; J Rowland; R A Cucci; R J Smith; G Van Camp
Journal:  J Med Genet       Date:  2001-08       Impact factor: 6.318

5.  Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population.

Authors:  P Seeman; O Bendová; D Rasková; M Malíková; D Groh; Z Kabelka
Journal:  Ann Hum Genet       Date:  2005-01       Impact factor: 1.670

6.  A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Authors:  Nathalie Pallares-Ruiz; Patricia Blanchet; Michel Mondain; Mireille Claustres; Anne-Francoise Roux
Journal:  Eur J Hum Genet       Date:  2002-01       Impact factor: 4.246

7.  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

8.  Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.

Authors:  Hanno Bolz; Götz Schade; Stefanie Ehmer; Christian Kothe; Markus Hess; Andreas Gal
Journal:  Hear Res       Date:  2004-02       Impact factor: 3.208

9.  Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.

Authors:  O Uyguner; M Emiroglu; A Uzumcu; G Hafiz; A Ghanbari; N Baserer; M Yuksel-Apak; B Wollnik
Journal:  Clin Genet       Date:  2003-07       Impact factor: 4.438

10.  Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

Authors:  Ignacio Del Castillo; Miguel A Moreno-Pelayo; Francisco J Del Castillo; Zippora Brownstein; Sandrine Marlin; Quint Adina; David J Cockburn; Arti Pandya; Kirby R Siemering; G Parker Chamberlin; Ester Ballana; Wim Wuyts; Andréa Trevas Maciel-Guerra; Araceli Alvarez; Manuela Villamar; Mordechai Shohat; Dvorah Abeliovich; Hans-Henrik M Dahl; Xavier Estivill; Paolo Gasparini; Tim Hutchin; Walter E Nance; Edi L Sartorato; Richard J H Smith; Guy Van Camp; Karen B Avraham; Christine Petit; Felipe Moreno
Journal:  Am J Hum Genet       Date:  2003-10-21       Impact factor: 11.025
View more
  23 in total

1.  The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas.

Authors:  Hande Küçük Kurtulgan; Emine Elif Altuntaş; Malik Ejder Yıldırım; Öztürk Özdemir; Binnur Bağcı; İlhan Sezgin
Journal:  J Int Adv Otol       Date:  2019-12       Impact factor: 1.017

2.  Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.

Authors:  Yongyi Yuan; Fei Yu; Guojian Wang; Shasha Huang; Ruili Yu; Xin Zhang; Deliang Huang; Dongyi Han; Pu Dai
Journal:  J Transl Med       Date:  2010-12-02       Impact factor: 5.531

3.  GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.

Authors:  Mustafa Tekin; Xia-Juan Xia; Radnaabazar Erdenetungalag; Filiz Basak Cengiz; Thomas W White; Janchiv Radnaabazar; Begzsuren Dangaasuren; Hakki Tastan; Walter E Nance; Arti Pandya
Journal:  Ann Hum Genet       Date:  2010-01-27       Impact factor: 1.670

4.  Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations.

Authors:  Aisen V Solovyev; Lilya U Dzhemileva; Olga L Posukh; Nikolay A Barashkov; Marita S Bady-Khoo; Semen L Lobov; Natalya Yu Popova; Georgii P Romanov; Nikolay N Sazonov; Alexander A Bondar; Igor V Morozov; Mikhail I Tomsky; Sardana A Fedorova; Elza K Khusnutdinova
Journal:  J Community Genet       Date:  2017-03-21

5.  Research of genetic bases of hereditary non-syndromic hearing loss.

Authors:  Aslı Subaşıoğlu; Duygu Duman; Aslı Sırmacı; Güney Bademci; Fehime Carkıt; Mehmet Akif Somdaş; Mustafa Erkan; Mustafa Tekin; Munis Dündar
Journal:  Turk Pediatri Ars       Date:  2017-09-01

6.  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

7.  Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China.

Authors:  Qinjun Wei; Shuai Wang; Jun Yao; Yajie Lu; Zhibin Chen; Guangqian Xing; Xin Cao
Journal:  J Transl Med       Date:  2013-07-04       Impact factor: 5.531

8.  Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association.

Authors:  T D Matos; H Simões-Teixeira; H Caria; R Cascão; H Rosa; A O'Neill; O Dias; M E Andrea; D P Kelsell; G Fialho
Journal:  Genet Res Int       Date:  2011-10-05

9.  Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China.

Authors:  Yajie Lu; Dachun Dai; Zhibin Chen; Xin Cao; Xingkuan Bu; Qinjun Wei; Guangqian Xing
Journal:  J Biomed Res       Date:  2011-09

10.  EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

Authors:  Lies H Hoefsloot; Anne-Françoise Roux; Maria Bitner-Glindzicz
Journal:  Eur J Hum Genet       Date:  2013-05-22       Impact factor: 4.246
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.