Literature DB >> 10422812

High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness.

T Antoniadi, R Rabionet, C Kroupis, G A Aperis, J Economides, J Petmezakis, E Economou-Petersen, X Estivill, M B Petersen.   

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Year:  1999        PMID： 10422812

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  8 in total

1.  Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece.

Authors:  V Iliadou; N Eleftheriades; A S Metaxas; A Skevas; T Kiratzidis; A Pampanos; N Voyiatzis; M Grigoriadou; M B Petersen; T Iliades
Journal:  Eur Arch Otorhinolaryngol       Date:  2003-09-30       Impact factor: 2.503

2.  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

3.  Detection of the GJB2 Mutation in Iranian Children with Hearing Loss Treated with Cochlear Implantation.

Authors:  Aa Peyvandi; S Morovvati; Hr Rabiee; R Ranjbar; M Ajalloueyan; M Hassanalifard
Journal:  Balkan J Med Genet       Date:  2011-06       Impact factor: 0.519

4.  Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.

Authors:  Ana Paula Grillo; Flávia Marcorin de Oliveira; Gabriela Queila de Carvalho; Ruan Felipe Vieira Medrano; Sueli Matilde da Silva-Costa; Edi Lúcia Sartorato; Camila Andréa de Oliveira
Journal:  Biomed Res Int       Date:  2015-05-17       Impact factor: 3.411

5.  A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia.

Authors:  Marzieh Rahbaran; Maryam Hassani Doabsari; Simindokht Salavitabar; Neda Mokhberian; Ziba Morovvati; Saeid Morovvati
Journal:  Cell Mol Biol Lett       Date:  2019-08-19       Impact factor: 5.787

6.  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

7.  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

8.  Interaction between audiology and genetics in the study of a family: the complexity of molecular diagnosis and genetic counseling.

Authors:  Flavia Maria Rodrigues Hoffmann; Patrícia Fernandes Rodrigues; Teresa Maria Momensohn Dos Santos; Edi Lucia Sartorato; Andréa Trevas Maciel-Guerra; Carla Gentile Matas; Vanessa Cristine Sousa de Moraes
Journal:  Braz J Otorhinolaryngol       Date:  2008 Sep-Oct
  8 in total

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