Literature DB >> 25189242

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.

Vassos Neocleous1, Constantina Costi, Christos Shammas, Elena Spanou, Violetta Anastasiadou, George A Tanteles, Leonidas A Phylactou.   

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Year:  2014        PMID： 25189242     DOI： 10.1007/s12041-014-0365-0

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


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  21 in total

1.  Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

Authors:  R Rabionet; L Zelante; N López-Bigas; L D'Agruma; S Melchionda; G Restagno; M L Arbonés; P Gasparini; X Estivill
Journal:  Hum Genet       Date:  2000-01       Impact factor: 4.132

2.  Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population.

Authors:  Vassos Neocleous; George Portides; Violetta Anastasiadou; Leonidas A Phylactou
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2006-05-19       Impact factor: 1.675

3.  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.

Authors:  M Mustapha; N Salem; V Delague; E Chouery; M Ghassibeh; M Rai; J Loiselet; C Petit; A Mégarbané
Journal:  J Med Genet       Date:  2001-10       Impact factor: 6.318

4.  Prevalence of GJB2 mutations in prelingual deafness in the Greek population.

Authors:  Andreas Pampanos; John Economides; Vassiliki Iliadou; Polyxeni Neou; Paulos Leotsakos; Nikolaos Voyiatzis; Nikolaos Eleftheriades; Michael Tsakanikos; Thalia Antoniadi; Angeliki Hatzaki; Irene Konstantopoulou; Drakoulis Yannoukakos; Karen Gronskov; Karen Brondum-Nielsen; Maria Grigoriadou; Jolanda Gyftodimou; Theophilos Iliades; Antonios Skevas; Michael B Petersen
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2002-09-02       Impact factor: 1.675

5.  Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.

Authors:  Gülistan Meşe; Eric Londin; Rickie Mui; Peter R Brink; Thomas W White
Journal:  Hum Genet       Date:  2004-07-07       Impact factor: 4.132

6.  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

7.  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

8.  Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.

Authors:  Andreas R Janecke; Almut Hirst-Stadlmann; Barbara Günther; Barbara Utermann; Thomas Müller; Judith Löffler; Gerd Utermann; Doris Nekahm-Heis
Journal:  Hum Genet       Date:  2002-07-03       Impact factor: 4.132

9.  Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.

Authors:  Nina Danilenko; Elena Merkulava; Marina Siniauskaya; Olga Olejnik; Anastasia Levaya-Smaliak; Alena Kushniarevich; Andrey Shymkevich; Oleg Davydenko
Journal:  PLoS One       Date:  2012-05-02       Impact factor: 3.240

10.  Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

Authors:  Bai-Lin Wu; Neal Lindeman; Va Lip; Albert Adams; R Stephen Amato; Gerald Cox; Mira Irons; Margaret Kenna; Bruce Korf; Jay Raisen; Orah Platt
Journal:  Genet Med       Date:  2002 Jul-Aug       Impact factor: 8.822
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