PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY

Published:2019-10 Issue:10 Volume:39 Page:2040-2052
ISSN:0275-004X
Container-title:Retina
language:en
Short-container-title:

Author:

Zou Xuan,Fu Qing,Fang Sha,Li Hui,Ge Zhongqi,Yang Lizhu,Xu Mingchu,Sun Zixi,Li Huajin,Li Yumei,Dong Fangtian,Chen Rui,Sui Ruifang

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Ophthalmology,General Medicine

Reference48 articles.

1. Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations;Valverde;Invest Ophthalmol Vis Sci,2009

2. A novel locus for Leber congenital amaurosis on chromosome 14q24;Stockton;Hum Genet,1998

3. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina;Haeseleer;J Biol Chem,2002

4. Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis;Perrault;Am J Hum Genet,2004

5. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy;Janecke;Nat Genet,2004

Cited by 18 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. Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12-Associated Inherited Retinal Degeneration;Translational Vision Science & Technology;2024-08-09

2. Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy;Investigative Opthalmology & Visual Science;2024-03-22

3. RDH12-associated retinal degeneration caused by a homozygous pathogenic variant of 146C>T and literature review;International Journal of Ophthalmology;2024-02-18

4. Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration;American Journal of Ophthalmology;2023-08

5. Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports;Journal of Medical Case Reports;2023-06-02

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