Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference39 articles.
1. DNA deletion associated with hereditary neuropathy with liability to pressure palsies
2. Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p 11.2 p 11.2) (Smith-Magenis syndrome)
3. Hereditary retinoblastoma and 13q– mosaicism
4. Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome
Cited by 80 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. Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome;MOL SYNDROMOL;2024
2. Whole Exome Sequencing on a multiplex family of Indian origin identifies mutations at 17p11.2 in siblings with autism spectrum disorders: implications to understanding the pathophysiology from syndromic variants.;2023-10-16
3. Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return;American Journal of Medical Genetics Part A;2022-07-14
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. Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders;Genes;2022-02-11
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