Mutation screening of the EYA1, SIX1, and SIX5 genes in an east asian cohort with branchio-oto-renal syndrome
Author:
Publisher
Wiley
Subject
Otorhinolaryngology
Reference23 articles.
1. Phenotypic manifestations of branchio-oto-renal syndrome;Chen;Am J Med Genet,1995
2. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss;Fraser;Am J Med Genet,1980
3. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences;Chang;Hum Mutat,2004
4. Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis;Li;Nature,2003
5. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes;Ruf;Proc Natl Acad Sci U S A,2004
Cited by 24 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. Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea;International Journal of Molecular Sciences;2024-07-26
2. Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms;BMC Medical Genomics;2024-04-16
3. Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction;Frontiers in Genetics;2024-01-08
4. A Novel <i>EYA1</i> Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application;Clinical and Experimental Otorhinolaryngology;2023-11-30
5. Molecular Genetic Etiology and Revisiting the Middle Ear Surgery Outcomes of Branchio-Oto-Renal Syndrome: Experience in a Tertiary Referral Center;Otology & Neurotology;2023-04-22
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