Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations

Published:2022-01-10 Issue:4 Volume:35 Page:525-535
ISSN:0896-0267
Container-title:Brain Topography
language:en
Short-container-title:Brain Topogr

Author:

Jin Jing,Liang Liang,Jin Kun,Zhang Hai-jiang,Liu Rong,Shen Yin

Funder

National Key R&D Program of china

National Nature Science Foundation of china

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology,Radiology, Nuclear Medicine and imaging,Radiological and Ultrasound Technology,Anatomy

Link

https://link.springer.com/content/pdf/10.1007/s10548-021-00885-7.pdf

Reference42 articles.

1. Aleman TS, Uyhazi KE, Serrano LW, Vasireddy V, Bowman SJ, Ammar MJ, Pearson DJ, Maguire AM, Bennett J (2018) RDH12 mutations cause a severe retinal degeneration with relatively spared rod function. Invest Ophthalmol vis Sci 59(12):5225–5236

2. Bainbridge JW, Mehat MS, Sundaram V, Robbie SJ, Barker SE, Ripamonti C, Georgiadis A, Mowat FM, Beattie SG, Gardner PJ et al (2015) Long-term effect of gene therapy on Leber’s congenital amaurosis. N Engl J Med 372(20):1887–1897

3. Bertelsen M, Jensen H, Bregnhøj JF, Rosenberg T (2014) Prevalence of generalized retinal dystrophy in Denmark. Ophthalmic Epidemiol 21(4):217–223

4. Boughman JA, Conneally PM, Nance WE (1980) Population genetic studies of retinitis pigmentosa. Am J Hum Genet 32(2):223–235

5. Chrispell JD, Feathers KL, Kane MA, Kim CY, Brooks M, Khanna R, Kurth I, Hübner CA, Gal A, Mears AJ et al (2009) Rdh12 activity and effects on retinoid processing in the murine retina. J Biol Chem 284(32):21468–21477

Cited by 4 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. Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort;Ophthalmology Retina;2024-02

2. Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy;Investigative Opthalmology & Visual Science;2022-08-22

3. RDH12 retinopathy: clinical features, biology, genetics and future directions;Ophthalmic Genetics;2022-05-02

4. Genetic dissection of non-syndromic retinitis pigmentosa;Indian Journal of Ophthalmology;2022

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