Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2006.00604.x/fullpdf
Reference24 articles.
1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat Genet,1999
2. Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions;Reichwald;Mamm Genome,2000
3. Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2;Young;Proc Natl Acad Sci USA,2005
4. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males;Meloni;Am J Hum Genet,2000
5. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome;Meins;J Med Genet,2005
Cited by 14 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. Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease;Biomolecules;2021-01-08
2. Movement Disorders and Syndromic Autism: A Systematic Review;Journal of Autism and Developmental Disorders;2018-07-16
3. The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome;Frontiers in Cellular Neuroscience;2015-07-14
4. Bases moleculares del síndrome de Rett, una mirada actual;Revista Chilena de Pediatría;2015-05
5. Rett Syndrome and MeCP2;NeuroMolecular Medicine;2014-03-11
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