Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference20 articles.
1. The genetic aetiology of Silver-Russell syndrome;Abu-Amero;J Med Genet,2008
2. A new genetic concept: Uniparental disomy and its potential effect, isodisomy;Engel;Am J Med Genet,1980
3. Inherited myoclonus-dystonia syndrome;Gasser;Adv Neurol,1998
4. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome;Gicquel;Nat Genet,2005
5. Myoclonus-dystonia due to maternal uniparental disomy;Guettard;Arch Neurol,2008
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. Generalized Dystonia Due to KMT2B Mutation in a Patient with a Previous Diagnosis of Russell Silver Syndrome;Movement Disorders Clinical Practice;2023-08
2. Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum;Frontiers in Genetics;2023-07-17
3. Action Induced Myoclonus in a 11‐Year‐Old Boy with Silver‐Russell Syndrome;Movement Disorders Clinical Practice;2023-03-20
4. Myoclonus;Movement Disorders in Childhood;2022
5. ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene;Molecular Neurobiology;2021-04-22
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