(Q24793743)

2 July 2017

title

First molecular screening of deafness in the Altai Republic population (English)

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2 July 2017

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4

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2 July 2017

5

Mireille Claustres

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2 July 2017

Olga Posukh

1

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ORCID Public Data File 2021

author name string

Nathalie Pallares-Ruiz

series ordinal

2

1 reference

2 July 2017

Vera Tadinova

series ordinal

3

1 reference

2 July 2017

Anne-Françoise Roux

series ordinal

6

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2 July 2017

language of work or name

English

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publication date

24 March 2005

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2 July 2017

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2 July 2017

volume

6

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2 July 2017

issue

1

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page(s)

12

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Molecular epidemiology of DFNB1 deafness in France

2 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079841

High levels of Y-chromosome differentiation among native Siberian populations and the genetic signature of a boreal hunter-gatherer way of life

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079841

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079841

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079841

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079841

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079841

Maternally inherited hearing impairment

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079841

Prevalent connexin 26 gene (GJB2) mutations in Japanese

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079841

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079841

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079841

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079841

Improved splice site detection in Genie

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079841

The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-12

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-12

Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-12

The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-12

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-12

De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-12

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-12

Connexin26 mutations associated with nonsyndromic hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-12

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-12

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1079841

[Prevalence of hereditary pathology in Altai Republic]

28 November 2018

1 reference

12 December 2020

On the origin and frequency of the 35delG allele in GJB2-linked deafness in Europe

1 reference

12 December 2020

[Frequency of the 35delG mutation of the connexin 26 gene (GJB2) in patients with non-syndromic autosome-recessive deafness from Bashkortostan and in ethnic groups of the Volga-Ural region]

1 reference

12 December 2020

Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness

1 reference

12 December 2020

Structure and diversity of the mitochondrial gene pools of south Siberians

1 reference

12 December 2020

[A genetic-demographic study of the South Altaian population of the Mendur-Sokkon village (Altai Republic)]

1 reference

12 December 2020

[Genetic analysis of the South Altaian population of the Mendur-Sokkon village, Altai Republic]

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-12

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1186/1471-2350-6-12

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Dimensions Publication ID

2 July 2017

1020164799

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OpenCitations bibliographic resource ID

1290002

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1290002

1 reference