Establishing Genotype–phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation-Reference-Cited by-同舟云学术

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Establishing Genotype–phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation

Published:2020-04 Issue:4 Volume:41 Page:431-437
ISSN:1531-7129
Container-title:Otology & Neurotology
language:en
Short-container-title:

Author:

Molina-Ramírez Leslie P.,Lenassi Eva,Ellingford Jamie M.,Sergouniotis Panagiotis I.,Ramsden Simon C.,Bruce Iain A.,Black Graeme C. M.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical),Sensory Systems,Otorhinolaryngology

Reference19 articles.

1. Update on Usher syndrome;Saihan;Curr Opin Neurol,2009

2. Missense mutation in the USH2A gene: Association with recessive retinitis pigmentosa without hearing loss;Rivolta;Am J Hum Genet,2000

3. Clinical heterogeneity in a family with mutations in USH2A;Lenassi;JAMA Ophthalmol,2015

4. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants;Lenassi;Eur J Hum Genet,2015

5. Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa;Pierrache;Ophthalmology,2016

Cited by 11 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. Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients;Scientific Reports;2023-11-19

2. Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss;Frontiers in Cell and Developmental Biology;2023-02-15

3. A Genotype-Phenotype Analysis of Usher Syndrome in Puerto Rico: A Case Series;Cureus;2022-08-20

4. Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes;Genes;2022-08-10

5. Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study;Human Mutation;2022-03-21

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