(Q34142697)

English

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

31 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1 reference

based on heuristic

inferred from title

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inferred from title

Thomas B. Friedman

8

object named as

T B Friedman

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Bronya J. B. Keats

5

object named as

B Keats

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Europe PubMed Central

PubMed publication ID

31 July 2017

author name string

A J Griffith

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

A A Chowdhry

2

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Europe PubMed Central

PubMed publication ID

31 July 2017

K Kurima

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

L J Hood

4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

C I Berlin

6

1 reference

Europe PubMed Central

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31 July 2017

R J Morell

7

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Europe PubMed Central

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31 July 2017

language of work or name

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publication date

19 July 2000

1 reference

Europe PubMed Central

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31 July 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

31 July 2017

67

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Europe PubMed Central

PubMed publication ID

31 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

745-749

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287533

5 July 2018

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287533

5 July 2018

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287533

5 July 2018

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287533

5 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=1287533

5 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=1287533

5 July 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=1287533

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287533

5 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=1287533

5 July 2018

Age- and gender-specific reference ranges for hearing level and longitudinal changes in hearing level.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287533

5 July 2018

Connexins, connexons, and intercellular communication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287533

5 July 2018

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287533

5 July 2018

High-yield noninvasive human genomic DNA isolation method for genetic studies in geographically dispersed families and populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287533

5 July 2018

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287533

28 October 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=1287533

28 October 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=1287533

28 October 2018

Connexin mutations and hearing loss.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287533

28 October 2018

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287533

28 October 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=1287533

28 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10903123

12 December 2020

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1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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