Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype

Published:2014-05 Issue:6 Volume:57 Page:284-287
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Grønskov Karen,Diness Birgitte,Stahlhut Michelle,Zilmer Monica,Tümer Zeynep,Bisgaard Anne-Marie,Brøndum-Nielsen Karen

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference10 articles.

1. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia;Cossee;Am J Med Genet A,2011

2. Concurrent validity and reliability of the pediatric evaluation of disability inventory-computer adaptive test mobility domain;Dumas;Pediatr Phys Ther,2012

3. Item bank development for a revised pediatric evaluation of disability inventory (PEDI);Dumas;Phys Occup Ther Pediatr,2010

4. ARX: a gene for all seasons;Gecz;Curr Opin Genet Dev,2006

5. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus;Guerrini;Neurology,2007

Cited by 4 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. Manifestations of Intellectual Disability, Dystonia, and Parkinson’s Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup);Case Reports in Genetics;2023-02-09

2. Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience;Molecular Case Studies;2020-05-05

3. Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy;Neurobiology of Disease;2017-09

4. A novel mutation in the OAR domain of the ARX gene;Clinical Case Reports;2017-01-23

同舟云学术

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