MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference31 articles.
1. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome;Amano;J Hum Genet,2000
2. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes;Amir;Ann Neurol,2000
3. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat Genet,1999
4. MECP2 mutations account for most cases of typical forms of Rett syndrome;Bienvenu;Hum Mol Genet,2000
5. Unexpectedly similar rates of nucleotide substitution found in male and female homonids;Bohossian;Nature,2000
Cited by 212 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. Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?;Frontiers in Medicine;2024-07-29
2. A Narrative Review on the Use of Eye-Tracking in Rett Syndrome: Implications for Diagnosis and Treatment;OBM Genetics;2024-07-05
3. Parental mosaicism rather than de novo variants in FOXG1‐related syndrome and TUBA1A‐associated Tubulinopathy: Familial case reports;Molecular Genetics & Genomic Medicine;2024-06
4. Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome;Genes;2024-05-08
5. Nuclease-free precise genome editing corrects MECP2 mutations associated with Rett syndrome;Frontiers in Genome Editing;2024-03-01
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