Literature DB >> 10508996

High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim.

T Sobe, P Erlich, A Berry, M Korostichevsky, S Vreugde, K B Avraham, B Bonné-Tamir, M Shohat.   

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Year:  1999        PMID： 10508996

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  15 in total

1.  Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.

Authors:  Meirav Sokolov; Zippora Brownstein; Moshe Frydman; Karen B Avraham
Journal:  J Basic Clin Physiol Pharmacol       Date:  2014-09

2.  Lower carrier rate of GJB2 W24X ancestral Indian mutation in Roma samples from Hungary: implication for public health intervention.

Authors:  Csilla Sipeky; Petra Matyas; Marton Melegh; Ingrid Janicsek; Renata Szalai; Istvan Szabo; Reka Varnai; Greta Tarlos; Alma Ganczer; Bela Melegh
Journal:  Mol Biol Rep       Date:  2014-06-27       Impact factor: 2.316

3.  Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness.

Authors:  Melissa de Freitas Cordeiro-Silva; Andressa Barbosa; Marília Santiago; Mariana Provetti; Raquel Spinassé Dettogni; Thais Tristão Tovar; Eliete Rabbi-Bortolini; Iúri Drumond Louro
Journal:  Mol Biol Rep       Date:  2010-06-19       Impact factor: 2.316

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.  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

6.  GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment.

Authors:  G Padma; P V Ramchander; U V Nandur; T Padma
Journal:  J Genet       Date:  2009-12       Impact factor: 1.166

7.  Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.

Authors:  K Y Lee; S Y Choi; J W Bae; S Kim; K W Chung; D Drayna; U K Kim; S H Lee
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2008-06-27       Impact factor: 1.675

8.  Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.

Authors:  Ram Shankar Mani; Aparna Ganapathy; Rajeev Jalvi; C R Srikumari Srisailapathy; Vikas Malhotra; Shelly Chadha; Arun Agarwal; Arabandi Ramesh; Raghunath Rao Rangasayee; Anuranjan Anand
Journal:  Eur J Hum Genet       Date:  2008-10-22       Impact factor: 4.246

9.  GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.

Authors:  Akihiro Ohtsuka; Isamu Yuge; Shinobu Kimura; Atsushi Namba; Satoko Abe; Lut Van Laer; Guy Van Camp; Shin-ichi Usami
Journal:  Hum Genet       Date:  2003-01-31       Impact factor: 4.132

10.  A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment.

Authors:  Marta Gandía; Francisco J Del Castillo; Francisco J Rodríguez-Álvarez; Gema Garrido; Manuela Villamar; Manuela Calderón; Miguel A Moreno-Pelayo; Felipe Moreno; Ignacio del Castillo
Journal:  PLoS One       Date:  2013-09-06       Impact factor: 3.240
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