Glomerulopathy in patients with distal duplication of chromosome 6p
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
http://link.springer.com/content/pdf/10.1186/s12882-016-0246-2.pdf
Reference10 articles.
1. Vulto-van Silfhout AT, van Ravenswaaij CM, Hehir-Kwa JY, Verwiel ET, Dirks R, van Vooren S, Schinzel A, de Vries BB, de Leeuw N. An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations. Eur J Med Genet. 2013;56:471–4.
2. Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NPDECIPHER. Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet. 2006;84:524–33.
3. Dominquez MG, Wong-Ley LE, Rivera H, Vasquez AL, Ramos AL, Sanchez-Urbina R, Morales JA, Figuera LE. Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23). Ann Genet. 2003;46:45–8.
4. Engelen JJ, Marcelis CL, Alofs MG, Loneus WH, Pulles-Heintzberger CF, Hamers AJ. De novo “pure” partial trisomy (6)(p22.1 → pter) in a chromosome 15 with an enlarged satellite, identified by microdissection. Am J Med Genet. 2001;99:48–53.
5. Giardino D, Finelli P, Caufin D, Gottardi G, Lo Vasco R, Turolla L, Larizza L. Pure 6p22-pter trisomic patient: refined FISH characterization and genotype - phenotype correlation. Am J Med Genet. 2002;108:36–40.
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. Alagille-like syndrome with surprising karyotype: a case report;Journal of Medical Case Reports;2023-04-26
2. De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review;Diagnostics;2022-09-24
3. De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism;Molecular Syndromology;2022-07-06
4. An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination;Case Reports in Genetics;2020-08-31
5. Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability;Croatian Medical Journal;2017-06
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