MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

Published:2009-02 Issue:2 Volume:30 Page:E432-E442
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Brancati Francesco,Iannicelli Miriam,Travaglini Lorena,Mazzotta Annalisa,Bertini Enrico,Boltshauser Eugen,D'Arrigo Stefano,Emma Francesco,Fazzi Elisa,Gallizzi Romina,Gentile Mattia,Loncarevic Damir,Mejaski-Bosnjak Vlatka,Pantaleoni Chiara,Rigoli Luciana,Salpietro Carmelo D.,Signorini Sabrina,Stringini Gilda Rita,Verloes Alain,Zabloka Dominika,Dallapiccola Bruno,Gleeson Joseph G.,Valente Enza Maria,

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 98 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. Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene;American Journal of Ophthalmology Case Reports;2024-12

2. Two functional forms of the Meckel-Gruber syndrome protein TMEM67 generated by proteolytic cleavage by ADAMTS9 mediate Wnt signaling and ciliogenesis;2024-09-05

3. A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification;2024-03-02

4. Developmental and Inherited Liver Disease;MacSween's Pathology of the Liver;2024

5. Nephronophthisis: a pathological and genetic perspective;Pediatric Nephrology;2023-11-06

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