Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng1099_185.pdf
Reference25 articles.
1. Rett, A. Uber ein zerebral-atrophisches Syndrome bei Hyperammonemie (Bruder Hollinek, Vienna, 1966).
2. Hagberg, B. Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr. Scand. 74, 405– 408 (1985).
3. Hagberg, B., Aicardi, J., Dias, K. & Ramos, O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann. Neurol. 14, 471–479 (1983).
4. Zoghbi, H. Genetic aspects of Rett syndrome. J. Child Neurol. 3, S76–78 (1988).
5. Zoghbi, H.Y., Percy, A.K., Schultz, R.J. & Fill, C. Patterns of X chromosome inactivation in the Rett syndrome. Brain Dev. 12, 131–135 (1990).
Cited by 4068 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. Sleep and the Social Profiles of Individuals With Rett Syndrome;Pediatric Neurology;2024-03
2. A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways;Archives of Biochemistry and Biophysics;2024-02
3. Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome;Stem Cell Research;2024-02
4. Strategies for dissecting the complexity of neurodevelopmental disorders;Trends in Genetics;2024-02
5. Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms;Genetics in Medicine;2024-02
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
"全球学者库"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,当前全球学者库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 © 2019-2023 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