Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort-Reference-Cited by-同舟云学术

Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort

Published:2018-08-09 Issue:10 Volume:275 Page:2441-2448
ISSN:0937-4477
Container-title:European Archives of Oto-Rhino-Laryngology
language:en
Short-container-title:Eur Arch Otorhinolaryngol

Author:

Kecskeméti Nóra,Szönyi Magdolna,Gáborján Anita,Küstel Marianna,Milley György Máté,Süveges Anna,Illés Anett,Kékesi Anna,Tamás László,Molnár Mária Judit,Szirmai Ágnes,Gál Anikó

Funder

KTIA_13_NAP-A-III/6

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Otorhinolaryngology

Link

http://link.springer.com/article/10.1007/s00405-018-5083-4/fulltext.html

Reference33 articles.

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3. Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Levilliers J, Garabédian EN, Mueller RF, Gardner RJ, Petit C (1997) Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 6(12):2173–2177

4. Lilly E, Sellitto C, Milstone LM, White TW (2016) Connexin channels in congenital skin disorders. Semin Cell Dev Biol 50:4–12. https://doi.org/10.1016/j.semcdb.2015.11.018

5. Milley GM, Varga ET, Grosz Z, Bereznai B, Aranyi Z, Boczan J, Dioszeghy P, Kálmán B, Gal A, Molnar MJ (2016) Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot–Marie–Tooth disease patients. Neuromuscul Disord 26(10):706–711. https://doi.org/10.1016/j.nmd.2016.07.012

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2. Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment;Audiology Research;2023-05-10

3. Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients;International Journal of Molecular Sciences;2023-04-17

4. Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene;Genes;2022-12-26

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