Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A : implications for future clinical trials-Reference-Cited by-同舟云学术

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Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A : implications for future clinical trials

Published:2021-02-11 Issue:8 Volume:99 Page:922-930
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmol

Author:

Galbis‐Martínez Lilián¹²,Blanco‐Kelly Fiona¹²,García‐García Gema²³⁴,Ávila‐Fernández Almudena¹²,Jaijo Teresa²³⁴,Fuster‐García Carla²³⁴,Perea‐Romero Irene¹²,Zurita‐Muñoz Olga¹²,Jimenez‐Rolando Belén²⁵,Carreño Ester²⁵,García‐Sandoval Blanca²⁵,Millán José M.²³⁴^ORCID,Ayuso Carmen¹²^ORCID

Affiliation:

1. Department of Genetics University Hospital Fundacion Jimenez Diaz IIS‐FJD UAM Madrid Spain

2. CIBERER ISCIII Madrid Spain

3. Unit of Genetics University Hospital La Fe – IIS La Fe Valencia Spain

4. Joint Unit for Rare Diseases IIS La Fe‐CIPF Valencia Spain

5. Department of Ophthalmology University Hospital Fundacion Jimenez Diaz IIS‐FJD UAM Madrid Spain

Funder

Comunidad de Madrid

H2020 European Institute of Innovation and Technology

Instituto de Salud Carlos III

Generalitat Valenciana

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/aos.14795

Reference38 articles.

1. Mutation Profile of All 49 Exons of the Human Myosin VIIA Gene, and Haplotype Analysis, in Usher 1B Families from Diverse Origins

2. Evaluation of the Myosin VIIA Gene and Visual Function in Patients with Usher Syndrome Type I

3. Clinical Aspects of Usher Syndrome and theUSH2AGene in a Cohort of 433 Patients

4. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

5. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Cited by 8 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. Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy;Investigative Ophthalmology & Visual Science;2024-06-17

2. Pathophysiology of human hearing loss associated with variants in myosins;Frontiers in Physiology;2024-03-18

3. Dual-AAV vector-mediated expression of MYO7A improves vestibular function in a mouse model of Usher syndrome 1B;Molecular Therapy - Methods & Clinical Development;2023-09

4. Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss;Audiology and Neurotology;2023

5. 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

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