(Q50501384)

English

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

scientific article published in April 1999

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

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

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

1 reference

based on heuristic

inferred from title

5

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

Christine Petit

7

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

author name string

F Denoyelle

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

S Marlin

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

D Weil

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

L Moatti

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

E N Garabédian

6

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

language of work or name

0 references

publication date

1 April 1999

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

353

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

9161

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

1298-1303

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

Hearing disorders in childhood, some procedures for detection, identification and diagnostic evaluation

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Retrospective study of the prevalence of bilateral sensorineural deafness in childhood

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence and etiology of bilateral sensorineural hearing impairment in a Finnish childhood population.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

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Genes responsible for human hereditary deafness: symphony of a thousand

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in PDS causes non-syndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Nonsyndromic hearing loss: an analysis of audiograms.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

A suggested nomenclature for designating mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

The vestibulo-ocular reflex in pupils at a Dutch school for the hearing impaired; findings relating to acquired causes.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Connexin 26 gene linked to a dominant deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Connexin-26 mutations in sporadic non-syndromal sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

The outcome of congenital cytomegalovirus infection in relation to maternal antibody status

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2898%2911071-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0140-6736(98)11071-1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/10218527

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