(Q50481254)

English

Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.

scientific article published in February 2004

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Hanno Bolz

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

Götz Schade

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

Stefanie Ehmer

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

Christian Kothe

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

Markus Hess

5

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

Andreas Gal

6

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

publication date

1 February 2004

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

Hearing Research

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

188

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

1-2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

42-46

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2803%2900346-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2803%2900346-0

7 January 2021

based on heuristic

inferred from DOI database lookup

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2803%2900346-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2803%2900346-0

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%2FS0378-5955%2803%2900346-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression of the gap-junction connexins 26 and 30 in the rat cochlea

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2803%2900346-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2803%2900346-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2803%2900346-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2803%2900346-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2803%2900346-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2803%2900346-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0378-5955(03)00346-0

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14759569

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