Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS)-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS)

Published:2004-01 Issue:2 Volume:25 Page:121-131
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Brooks Simon,Ebenezer Neil,Poopalasundaram Subathra,Maher Eamonn,Francis Peter,Moore Anthony,Hardcastle Alison

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.1080/13816810490514360

Reference12 articles.

1. The genetics of childhood cataract

2. A locus for isolated cataract on human Xp

3. Mapping of the X-Linked Cataract (Xcat) Mutation, the Gene Implicated in the Nance Horan Syndrome, on the Mouse X Chromosome

Cited by 12 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. Retinoic Acid-Induced 2 (RAI2) Is a Novel Antagonist of Wnt/β-Catenin Signaling Pathway and Potential Biomarker of Chemosensitivity in Colorectal Cancer;Frontiers in Oncology;2022-03-01

2. A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract;European Journal of Human Genetics;2021-04-19

3. Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families;Ophthalmic Genetics;2019-11-02

4. Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome;BMC Medical Genetics;2019-01-14

5. A novel small deletion in the NHS gene associated with Nance-Horan syndrome;Scientific Reports;2018-02-05

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