Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients-Reference-Cited by-同舟云学术

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Published:2018-07-09 Issue:1 Volume:11 Page:
ISSN:1755-8794
Container-title:BMC Medical Genomics
language:en
Short-container-title:BMC Med Genomics

Author:

Cabanillas Rubén,Diñeiro Marta,Cifuentes Guadalupe A.,Castillo David,Pruneda Patricia C.,Álvarez Rebeca,Sánchez-Durán Noelia,Capín Raquel,Plasencia Ana,Viejo-Díaz Mónica,García-González Noelia,Hernando Inés,Llorente José L.,Repáraz-Andrade Alfredo,Torreira-Banzas Cristina,Rosell Jordi,Govea Nancy,Gómez-Martínez Justo Ramón,Núñez-Batalla Faustino,Garrote José A.,Mazón-Gutiérrez Ángel,Costales María,Isidoro-García María,García-Berrocal Belén,Ordóñez Gonzalo R.,Cadiñanos Juan^ORCID

Funder

Fundación María Cristina Masaveu Peterson

Universidad de Oviedo

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12920-018-0375-5.pdf

Reference64 articles.

1. Alford RL, Arnos KS, Fox M, Lin JW, Palmer CG, Pandya A, Rehm HL, Robin NH, Scott DA, Yoshinaga-Itano C, et al. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med. 2014;16(4):347–55.

2. Burke WF, Warnecke A, Schoner-Heinisch A, Lesinski-Schiedat A, Maier H, Lenarz T. Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients. Hear Res. 2016;333:77–86.