(Q35436038)

English

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134236%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134236%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

based on heuristic

inferred from title

sensorineural hearing loss

1 reference

based on heuristic

inferred from title

David P. Kelsell

12

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134236%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

M J Houseman

1

1 reference

Europe PubMed Central

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3 November 2019

L A Ellis

2

1 reference

Europe PubMed Central

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3 November 2019

A Pagnamenta

3

1 reference

Europe PubMed Central

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3 November 2019

W L Di

4

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Europe PubMed Central

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3 November 2019

S Rickard

5

1 reference

Europe PubMed Central

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3 November 2019

A H Osborn

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134236%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

H H Dahl

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134236%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

G R Taylor

8

1 reference

Europe PubMed Central

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3 November 2019

M Bitner-Glindzicz

9

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134236%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

W Reardon

10

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134236%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

R F Mueller

11

1 reference

Europe PubMed Central

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3 November 2019

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publication date

1 January 2001

1 reference

Europe PubMed Central

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3 November 2019

Journal of Medical Genetics

1 reference

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3 November 2019

38

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3 November 2019

1

1 reference

Europe PubMed Central

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3 November 2019

20-25

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134236%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Mutations in GJB6 cause hidrotic ectodermal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

27 July 2018

Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

27 July 2018

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

27 July 2018

Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

27 July 2018

Prevalent connexin 26 gene (GJB2) mutations in Japanese

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

27 July 2018

Mapping and characterization of the basal promoter of the human connexin26 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

27 July 2018

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

27 July 2018

Connections with connexins: the molecular basis of direct intercellular signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

26 September 2018

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

26 September 2018

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

26 September 2018

Connexin mutations in deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

26 September 2018

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734724

15 November 2018

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/11134236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11134236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.38.1.20

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134236%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134236%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134236%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

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