Potocki-Lupski syndrome: An inherited dup(17)(p11.2p11.2) with hypoplastic left heart
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33845/fullpdf
Reference12 articles.
1. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2;Bi;Am J Hum Genet,2003
2. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome;Chen;Nat Genet,1997
3. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2);Greenberg;Am J Med Genet,1996
4. Cognitive and adaptive behavior profiles in Smith-Magenis syndrome;Madduri;J Dev Behav Pediatr,2006
5. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs;Park;Genome Res,2002
Cited by 26 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. Llgl1 mediates timely epicardial emergence and establishment of an apical laminin sheath around the trabeculating cardiac ventricle;Development;2024-06-28
2. Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review;Journal of Personalized Medicine;2023-02-28
3. Pleiotropy of Copy Number Variation in Human Genome;Russian Journal of Genetics;2022-10
4. A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele;European Journal of Human Genetics;2022-07-11
5. Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios;BMC Medical Genomics;2022-03-30
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