Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family

Published:2014-12 Issue:12 Volume:78 Page:2216-2221
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Lin Fangzhu,Li Dejun,Wang Ping,Fan Dongyan,De Ji,Zhu Wei

Funder

Chinese National Science Foundation

Ministry of Health of China

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health

Reference34 articles.

1. Newborn hearing screening—a silent revolution;Morton;N. Engl. J. Med.,2006

2. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss;Li;Am. J. Hum. Genet.,2010

3. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82;Walsh;Am. J. Hum. Genet.,2010

4. Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4);Zheng;Proc. Natl. Acad. Sci. U. S. A.,2011

5. Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment;Schraders;Am. J. Hum. Genet.,2011

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. A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options;Clinical Genetics;2022-09-29

2. Atypical Presentation of Enlarged Vestibular Aqueducts Caused by SLC26A4 Variants;Children;2022-01-28

3. Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss;Molecular Genetics & Genomic Medicine;2020-11-18

4. Distinct functions of TMC channels: a comparative overview;Cellular and Molecular Life Sciences;2019-10-04

5. Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort;BMC Research Notes;2018-08-02

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