Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children
Author:
Affiliation:
1. Department of Medicine, Division of Nephrology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
Funder
National Institutes of Health
Deutsche Forschungsgemeinschaft
German Research Foundation
Publisher
Oxford University Press (OUP)
Subject
Transplantation,Nephrology
Link
http://academic.oup.com/ndt/article-pdf/34/3/474/27989200/gfy050.pdf
Reference94 articles.
1. Exploring the genetic basis of early-onset chronic kidney disease;Vivante;Nat Rev Nephrol,2016
2. Contributions of the transplant registry: the 2006 annual report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS);Smith;Pediatr Transplant,2007
3. Genetic disorders of glomerular basement membranes;Kashtan;Nephron Clin Pract,2011
4. Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome;Lemmink;Hum Mol Genet,1994
5. Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome;Mochizuki;Nat Genet,1994
Cited by 15 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. Steroid-Resistant Nephrotic Syndrome is Associated with a Unique Genetic Profile in a Highly Admixed Pediatric Population;Kidney International Reports;2024-09
2. A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report;International Journal of Molecular Sciences;2024-04-19
3. Artificial intelligence and the analysis of cryo-EM data provide structural insight into the molecular mechanisms underlying LN-lamininopathies;Scientific Reports;2023-10-19
4. Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease;Kidney International Reports;2023-09
5. Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-09
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