(Q50485453)

English

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.

scientific article published in December 2002

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scholarly article

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

mitochondrial DNA

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1 reference

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Damien Sternberg

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

Christine Petit

11

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

Didier Bouccara

7

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Didier Bouccara

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

author name string

Elise Chapiro

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

Delphine Feldmann

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

Françoise Denoyelle

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

Claude Jardel

5

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

Marie-Madeleine Eliot

6

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

Dominique Weil

8

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

Eréa-Noel Garabédian

9

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

Rémy Couderc

10

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

Sandrine Marlin

12

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

publication date

1 December 2002

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

European Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

10

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

12

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

851-856

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200894

0 references

Molecular genetics of hearing loss

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

21 January 2018

Audiologic findings in patients with a point mutation at nucleotide 3,243 of mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

21 January 2018

Sensorineural deafness inherited as a tissue specific mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

21 January 2018

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

21 January 2018

Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

21 January 2018

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

21 January 2018

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

21 January 2018

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

21 January 2018

A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

21 January 2018

Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

21 January 2018

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

21 January 2018

Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

21 January 2018

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

7 January 2021

based on heuristic

inferred from DOI database lookup

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200894

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5200894

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/12461693

ResearchGate publication ID

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