Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies

Published:2020-11-02 Issue:1 Volume:49 Page:46-59
ISSN:1442-6404
Container-title:Clinical & Experimental Ophthalmology
language:en
Short-container-title:Clin Experiment Ophthalmol

Author:

Liu Xiaozhen¹²^ORCID,Tao Tianchang³,Zhao Lin¹²,Li Genlin³,Yang Liping¹²

Affiliation:

1. Department of Ophthalmology Peking University Third Hospital Beijing China

2. Beijing Key Laboratory of Restoration of Damaged Ocular Nerve Peking University Third Hospital Beijing China

3. Beijing Tongren Eye Center, Beijing Tongren Hospital Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab Beijing China

Publisher

Wiley

Subject

Ophthalmology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ceo.13875

Reference51 articles.

1. The molecular basis of human retinal and vitreoretinal diseases

2. Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy

3. Diagnostic exome sequencing in 266 Dutch patients with visual impairment

4. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

5. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

Cited by 41 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. Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene;Documenta Ophthalmologica;2024-07-30

2. Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance;Ophthalmologica;2024-07-23

3. Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences;International Journal of Molecular Sciences;2024-06-03

4. Crystalline Hepatopathy Associated With Bietti Crystalline Dystrophy: A Striking Manifestation of Disordered Fatty Acid Metabolism;American Journal of Surgical Pathology;2024-05-28

5. Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients;Investigative Ophthalmology & Visual Science;2024-05-14

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