A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

Published:2016-09 Issue: Volume:339 Page:60-68
ISSN:0378-5955
Container-title:Hearing Research
language:en
Short-container-title:Hearing Research

Author:

Hartel Bas P.,Löfgren Maria^ORCID,Huygen Patrick L.M.^ORCID,Guchelaar Iris^ORCID,Lo-A-Njoe Kort Nicole,Sadeghi Andre M.^ORCID,van Wijk Erwin,Tranebjærg Lisbeth,Kremer Hannie,Kimberling William J.,Cremers Cor W.R.J.,Möller Claes,Pennings Ronald J.E.^ORCID

Funder

Innovatiefonds

Fonds Nuts-Ohra

Heinsius Houbolt Fonds

Netherlands Organisation for Health Research and Development

Foundation Fighting Blindness

Netherlands Organisation for Scientific Research

Publisher

Elsevier BV

Subject

Sensory Systems

Reference43 articles.

1. Audiological findings in 100 USH2 patients;Abadie;Clin. Genet.,2012

2. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments;Aller;Eur. J. Hum. Genet. EJHG,2004

3. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients;Baux;Hum. Mutat.,2007

4. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation;Bernal;J. Med. Genet.,2003

5. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23;Bork;Am. J. Hum. Genet.,2001

Cited by 44 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. High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population;Orphanet Journal of Rare Diseases;2024-06-15

2. Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome;American Journal of Ophthalmology;2023-12

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

4. Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization;Communications Biology;2023-09-12

5. High prevalence of exon-13 variants in USH2A-related retinal dystrophy in Taiwanese population;2023-09-11

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3