Clinical features and mutation ofNPHP5in two Chinese siblings with Senior-Løken syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Clinical features and mutation ofNPHP5in two Chinese siblings with Senior-Løken syndrome

Published:2013-11-26 Issue:12 Volume:18 Page:838-842
ISSN:1320-5358
Container-title:Nephrology
language:en
Short-container-title:Nephrology

Author:

Tong Huajuan¹,Yue Zhihui¹,Sun Liangzhong¹,Chen Huiqin²,Wang Weiguang³,Wang Haiyan¹

Affiliation:

1. Department of Paediatrics; the First Affiliated Hospital, Sun Yat-Sen University; Guangzhou China

2. Department of Paediatrics; the Third Affiliated Hospital, Sun Yat-Sen University; Guangzhou China

3. Department of Paediatrics; Women and Children's Hospital of Guangdong Province; Guangzhou China

Publisher

Wiley

Subject

Nephrology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/nep.12156/fullpdf

Reference14 articles.

1. Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy;Senior;Am. J. Ophthalmol.,1961

2. Senior-Loken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis;Ronquillo;Vision Res.,2012

3. Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies;Chaki;Kidney Int.,2011

4. Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene;Omran;J. Am. Soc. Nephrol.,2002

5. Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association;Caridi;Kidney Int.,2006

Cited by 9 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. A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature;Molecular Genetics & Genomic Medicine;2022-10-20

2. Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia;BMC Pediatrics;2022-05-24

3. On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies;Frontiers in Cell and Developmental Biology;2021-03-05

4. Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis;Clinica Chimica Acta;2020-07

5. Clinical features of Senior–Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man;Journal of Genetic Medicine;2020-06-30

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