Genetic Screening of the Usher Syndrome in Cuba-Reference-Cited by-同舟云学术

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Genetic Screening of the Usher Syndrome in Cuba

Published:2019-05-22 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Santana Elayne E.,Fuster-García Carla,Aller Elena,Jaijo Teresa,García-Bohórquez Belén,García-García Gema,Millán José M.,Lantigua Araceli

Funder

Instituto de Salud Carlos III

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference35 articles.

1. Targeted next generation sequencing for molecular diagnosis of Usher syndrome.;Aparisi;Orphanet. J. Rare Dis.,2014

2. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and non-syndromic deafness.;Astuto;Am. J. Hum. Genet.,2002

3. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.;Bolz;Nat. Genet.,2001

4. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.;Bonnet;Orphanet. J. Rare Dis.,2011

5. An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.;Bonnet;Eur. J. Hum. Genet.,2016

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1. Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review;Balkan Medical Journal;2024-05-03

2. Sensorineural hearing loss due to a novel mutation in the PCDH15 gene: A case study;Brain Disorders;2023-03

3. Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients;Gene;2023-02

4. Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss;Journal of Clinical Laboratory Analysis;2022-09-26

5. Review of Genotype-Phenotype Correlations in Usher Syndrome;Ear & Hearing;2021-05-25

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