Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference38 articles.
1. Cystic kidney diseases: Many ways to form a cyst;H Loftus;Pediatr Nephrol,2013
2. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease;C Bergmann;J Am Soc Nephrol,2011
3. Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference;LM Guay-Woodford;J Pediatr,2014
4. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people;C Gimpel;Nat Rev Nephrol,2019
5. Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement;C Gimpel;Radiology,2019
Cited by 13 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 Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease;Genes;2024-05-08
2. Genomic Approaches for Monogenic Kidney Diseases: A Comparative Review of Diagnostic Methods and Precision Medicine Implications;Applied Sciences;2023-11-27
3. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease;Kidney International;2023-11
4. NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases;Clinical Case Reports;2023-08-30
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