(Q50493860)

English

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

scientific article published in November 2000

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

0 references

nonsyndromic deafness

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

I Lerer

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

M Sagi

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

E Malamud

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

H Levi

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

A Raas-Rothschild

5

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

D Abeliovich

6

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

publication date

1 November 2000

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

95

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

53-56

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

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

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C53%3A%3AAID-AJMG11%3E3.0.CO%3B2-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C53%3A%3AAID-AJMG11%3E3.0.CO%3B2-2

21 January 2018

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C53%3A%3AAID-AJMG11%3E3.0.CO%3B2-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C53%3A%3AAID-AJMG11%3E3.0.CO%3B2-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C53%3A%3AAID-AJMG11%3E3.0.CO%3B2-2

21 January 2018

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C53%3A%3AAID-AJMG11%3E3.0.CO%3B2-2

21 January 2018

A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C53%3A%3AAID-AJMG11%3E3.0.CO%3B2-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C53%3A%3AAID-AJMG11%3E3.0.CO%3B2-2

21 January 2018

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C53%3A%3AAID-AJMG11%3E3.0.CO%3B2-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C53%3A%3AAID-AJMG11%3E3.0.CO%3B2-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C53%3A%3AAID-AJMG11%3E3.0.CO%3B2-2

21 January 2018

Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C53%3A%3AAID-AJMG11%3E3.0.CO%3B2-2

21 January 2018

Identifiers

10.1002/1096-8628(20001106)95:1<53::AID-AJMG11>3.0.CO;2-2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

release_qrtkvh5e3vgcxblwmnpse2uafm

1 reference

https://api.fatcat.wiki/v0/release/qrtkvh5e3vgcxblwmnpse2uafm

24 November 2022

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/11074495

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