(Q50486950)

14 March 2018

title

Prevalence of GJB2 mutations in prelingual deafness in the Greek population. (English)

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14 March 2018

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Drakoulis Yannoukakos

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14 March 2018

Irene Konstantopoulou

object named as

Irene Konstantopoulou

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author name string

Andreas Pampanos

1

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14 March 2018

John Economides

2

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14 March 2018

Vassiliki Iliadou

3

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14 March 2018

Polyxeni Neou

4

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14 March 2018

Paulos Leotsakos

5

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14 March 2018

Nikolaos Voyiatzis

6

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14 March 2018

Nikolaos Eleftheriades

7

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14 March 2018

Michael Tsakanikos

8

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14 March 2018

Thalia Antoniadi

9

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14 March 2018

Angeliki Hatzaki

10

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14 March 2018

Karen Gronskov

13

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14 March 2018

Karen Brondum-Nielsen

14

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14 March 2018

Maria Grigoriadou

15

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14 March 2018

Jolanda Gyftodimou

16

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14 March 2018

Theophilos Iliades

17

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14 March 2018

Antonios Skevas

18

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14 March 2018

Michael B Petersen

19

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14 March 2018

publication date

1 September 2002

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14 March 2018

International Journal of Pediatric Otorhinolaryngology

published in

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14 March 2018

volume

65

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14 March 2018

issue

2

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14 March 2018

page(s)

101-108

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14 March 2018

Genetic epidemiology of hearing impairment

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At the speed of sound: gene discovery in the auditory system

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A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

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Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

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7 January 2021

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

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7 January 2021

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

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7 January 2021

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

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The gap junction communication channel

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Ion channel defects in hereditary hearing loss

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Perspectives: biomedicine. The benefits of recycling.

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Connexin mutations in skin disease and hearing loss

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7 January 2021

Connexin-26 mutations in sporadic and inherited sensorineural deafness

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7 January 2021

High carrier frequency of the 35delG deafness mutation in European populations

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7 January 2021

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

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7 January 2021

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

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7 January 2021

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness

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Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa

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

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7 January 2021

BRCA1 mutation analysis in breast/ovarian cancer families from Greece

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7 January 2021

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

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7 January 2021

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

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7 January 2021

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

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7 January 2021

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

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7 January 2021

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

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7 January 2021

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.

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7 January 2021

Connexin 26 studies in patients with sensorineural hearing loss.

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7 January 2021

Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings.

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7 January 2021

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

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7 January 2021

High frequency hearing loss correlated with mutations in the GJB2 gene.

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https://api.crossref.org/works/10.1016%2FS0165-5876%2802%2900177-5

7 January 2021

Connexin26 mutations associated with nonsyndromic hearing loss.

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https://api.crossref.org/works/10.1016%2FS0165-5876%2802%2900177-5

7 January 2021

Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population.

1 reference

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7 January 2021

Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing-impaired patients.

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7 January 2021

Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population.

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7 January 2021

Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods

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7 January 2021

Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation

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7 January 2021

Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation.

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7 January 2021

State-of-the-art for DNA technology in newborn screening

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7 January 2021

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Identifiers

DOI

1 reference

14 March 2018

1 reference

14 March 2018