GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype
Author:
Affiliation:
1. Department of Otolaryngology-Head and Neck Surgery; University of California; San Francisco U.S.A
2. Department of Otolaryngology-Head and Neck Surgery; Stanford University School of Medicine; Stanford California U.S.A
Publisher
Wiley
Subject
Otorhinolaryngology
Reference233 articles.
1. Newborn hearing screening-a silent revolution;Morton;N Engl J Med,2006
2. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness;Kelsell;Nature,1997
3. Ballana E Ventayol M Rabionet R Gasparini P Estivill X Connexins and deafness homepage http://www.crg.es/deafness 2013
4. GJB2 mutations and degree of hearing loss: a multicenter study;Snoeckx;Am J Hum Genet,2005
5. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene;Denoyelle;Hum Mol Genet,1997
Cited by 224 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. Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles;Children;2024-02-03
2. The multifaceted links between hearing loss and chronic kidney disease;Nature Reviews Nephrology;2024-01-29
3. Recurrent missense variant identified in two unrelated families with MPZL2‐related hearing loss, expanding the variant spectrum associated with DFNB111;American Journal of Medical Genetics Part A;2024-01-10
4. Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China;International Journal of Pediatric Otorhinolaryngology;2024-01
5. Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up;International Journal of Molecular Sciences;2023-11-25
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