SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations-Reference-Cited by-同舟云学术

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

Published:2006-03-29 Issue:6 Volume:14 Page:773-779
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Albert Sébastien,Blons Hélène,Jonard Laurence,Feldmann Delphine,Chauvin Pierre,Loundon Nathalie,Sergent-Allaoui Annie,Houang Muriel,Joannard Alain,Schmerber Sébastien,Delobel Bruno,Leman Jacques,Journel Hubert,Catros Hélène,Dollfus Hélène,Eliot Marie-Madeleine,David Albert,Calais Catherine,Drouin-Garraud Valérie,Obstoy Marie-Françoise,Tran Ba Huy Patrice,Lacombe Didier,Duriez Françoise,Francannet Christine,Bitoun Pierre,Petit Christine,Garabédian Eréa-Noël,Couderc Rémy,Marlin Sandrine,Denoyelle Françoise

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201611.pdf

Reference26 articles.

1. Morton NE : Genetic epidemiology of hearing impairment. Ann NY Acad Sci 1991; 630: 16–31.

2. Connexin-Deafness Homepage, http://davinci.crg.es/deafness/ .

3. Li XC, Everett LA, Lalwani AK et al: A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998; 18: 215–217.

4. Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ : Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 1999; 104: 188–192.

5. Blons H, Feldmann D, Duval V et al: Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet 2004; 66: 333–340.

Cited by 200 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Functional studies of deafness-associated pendrin and prestin variants;2024-01-26

2. Les surdités précoces : bilan étiologique et causes génétiques;Contraste;2023-10-02

3. Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia);Genes;2023-04-17

4. Sordità genetiche;EMC - Otorinolaringoiatria;2023-03

5. Sorderas genéticas;EMC - Otorrinolaringología;2023-02