X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.

Author:

Ogle R,DeSouza M,Cunningham C,Kerr B,Sillence D

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference10 articles.

1. disease and mental retardation. A new syndrome or a remarkable coincidence?;Weatherall, D.J.; Higgs, D.R.; Bunch, C.;N EnglJI Med,1981

2. Occurrence of the a thalassaemia/mental retardation syndrome (nondeletional type) in an Australian male;Harvey, M.P.; Kearney, A.; Smith, A.; Trent, R.J.;J Med Genet,1990

3. Clinical features and molecular analysis of the a thalassemia/ mental retardation syndromes. II. Cases without detectable abnormality of the a globin complex;Wilkie, A.O.M.; Zeitlin, H.C.; Lindenbaum, R.H.;Am J Hum Genet,1990

4. A newly defined X linked mental retardation syndrome associated with a thalassaemia;J Med Genet,1991

5. X linked a thalassaemia/mental retardation: spectrum of clinical features in three related males;Wilkie, A.O.M.; Gibbons, R.J.; Higgs, D.R.; Pembrey, M.E.;J Med Genet,1991

Cited by 8 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. Epilepsy and Sleep in the ATR-X Syndrome;Neuropediatrics;2021-12-21

2. T;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

3. Gastrointestinal phenotype of ATR-X syndrome;American Journal of Medical Genetics Part A;2006-06-01

4. Involuntary Laughter and Inappropriate Hilarity;The Journal of Neuropsychiatry and Clinical Neurosciences;1999-05

5. ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome;Human Molecular Genetics;1996-12-01

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