Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference58 articles.
1. Rett Syndrome
2. Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq
3. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
4. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
5. Decreased Dendritic Branching in Frontal, Motor and Limbic Cortex in Rett Syndrome Compared with Trisomy 21
Cited by 163 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. 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
2. LTP is Absent in the CA1 Region of the Hippocampus of Male and Female Rett Syndrome Mouse Models;Neuroscience;2024-01
3. Validation of the Observer-Reported Communication Ability (ORCA) measure for individuals with Rett syndrome;European Journal of Paediatric Neurology;2023-09
4. Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS);2023-05-02
5. Use of Augmentative and Alternative Communication by Individuals with Rett Syndrome Part 2: High-Tech and Low-Tech Modalities;Journal of Developmental and Physical Disabilities;2023-04-14
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