X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort

Published:2022-11-15 Issue:1 Volume:44 Page:35-42
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Fortunato P.¹,Pagliazzi A.²,Bargiacchi S.²,Marziali E.¹,Sodi A.³,Caputo R.¹,Passerini I.⁴,Pelo E.⁴,Bacci G. M.¹

Affiliation:

1. Pediatric Ophthalmology Unit, Meyer Children’s Hospital, Florence, Italy

2. Medical Genetics Unit, Meyer Children’s Hospital, Florence, Italy

3. Department of Neurosciences, Psychology, Drug Research, and Child Health, Eye Clinic, University of Florence, AOU Careggi, Florence, Italy

4. Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, Italy

Funder

no funding

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2141790

Reference37 articles.

1. X linked retinoschisis.

2. The National Eye Institute: Translational Clinical Research Initiatives on Inherited and Orphan Retinal Diseases: Personal Observations

3. The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

4. Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis

5. The Negative ERG: Clinical Phenotypes and Disease Mechanisms of Inner Retinal Dysfunction

Cited by 1 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. Efficacy of carbonic anhydrase inhibitors on cystoid fluid collections and visual acuity in patients with X-linked retinoschisis;Ophthalmology Retina;2023-12

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