Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes
Author:
Funder
PAPIIT-UNAM
CONACYT
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Link
https://link.springer.com/content/pdf/10.1007/s00417-022-05786-4.pdf
Reference52 articles.
1. den Hollander AI, Black A, Bennett J, Cremers FP (2010) Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest 120:3042–3053. https://doi.org/10.1172/JCI42258
2. Rahman N, Georgiou M, Khan KN, Michaelides M (2020) Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options. Br J Ophthalmol 104:451–460. https://doi.org/10.1136/bjophthalmol-2019-315086
3. Michaelides M, Hunt DM, Moore AT (2003) The genetics of inherited macular dystrophies. J Med Genet 40:641–650. https://doi.org/10.1136/jmg.40.9.641
4. Schachat AP, Wilkinson CP, Hinton DR, Sadda S, Wiedemann P (2018) Ryan’s retina. Elsevier, United States
5. Spiteri Cornish K, Ho J, Downes S, Scott NW, Bainbridge J, Lois N (2017) The epidemiology of Stargardt disease in the United Kingdom. Ophthalmol Retina 1:508–513. https://doi.org/10.1016/j.oret.2017.03.001
Cited by 6 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. Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants of CYP2U1;Ophthalmology Science;2024-09
2. Clinical and genetic characteristics of CYP2U1-associated hereditary spastic paraplegia in three children from China;2023-10-19
3. Phenotypic and genotypic features of POC1B -associated cone dystrophy;Ophthalmic Genetics;2023-05-29
4. Challenges and Opportunities in P450 Research on the Eye;Drug Metabolism and Disposition;2023-03-13
5. Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants ofCYP2U1;2023-03-09
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