Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy – A systematic review-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy – A systematic review

Published:2024-10 Issue:8 Volume:47 Page:104232
ISSN:0181-5512
Container-title:Journal Français d'Ophtalmologie
language:en
Short-container-title:Journal Français d'Ophtalmologie

Author:

Vrabič N.,Fakin A.^ORCID,Tekavčič Pompe M.^ORCID

Publisher

Elsevier BV

Reference50 articles.

1. CEP290, a gene with many faces: mutation overview and presentation of CEP290base;Coppieters;Hum Mutat,2010

2. Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis;Den Hollander;Am J Hum Genet,2006

3. Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations;Papon;J Med Genet,2010

4. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome;Leitch;Nat Genet,2008

5. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome;Valente;Nat Genet,2006

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