(Q30490278)

English

A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart (English)

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

object named as

Mustafa Tekin

3

0 references

author name string

Kathleen S Arnos

1

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Katherine O Welch

2

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Virginia W Norris

4

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Susan H Blanton

5

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Arti Pandya

6

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Walter E Nance

7

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Europe PubMed Central

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16 August 2017

language of work or name

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publication date

24 July 2008

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PMC publication ID

16 August 2017

83

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Europe PubMed Central

PMC publication ID

16 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

200-207

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Newborn hearing screening--a silent revolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

28 July 2018

Genetics of hereditary disorders of magnesium homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

28 July 2018

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

28 July 2018

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

28 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=2495057

28 July 2018

Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

28 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=2495057

28 July 2018

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

28 July 2018

Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

28 July 2018

An explanation of the superior performance IQs of deaf children of deaf parents.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

28 July 2018

Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

26 November 2018

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

26 November 2018

Relevance of connexin deafness (DFNB1) to human evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

26 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

26 November 2018

Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

26 November 2018

Relation between choice of partner and high frequency of connexin-26 deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

26 November 2018

Molecular genetics applied to clinical practice: the Cx26 hearing impairment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

26 November 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=2495057

26 November 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=2495057

26 November 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=2495057

26 November 2018

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

26 November 2018

Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495057

26 November 2018

Genetic epidemiological studies of congenital/prelingual deafness in Turkey: Population structure and mating type are major determinants of mutation identification

1 reference

https://pubmed.ncbi.nlm.nih.gov/18656178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

1 reference

https://pubmed.ncbi.nlm.nih.gov/18656178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2008.07.001

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

ResearchGate publication ID

0 references

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