Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease

Published:2013 Issue:1 Volume:6 Page:53
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Iourov Ivan Y,Vorsanova Svetlana G,Voinova Victoria Y,Kurinnaia Oxana S,Zelenova Maria A,Demidova Irina A,Yurov Yuri B

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Reference37 articles.

1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

2. Rett syndrome: a surprising result of mutation in MECP2

3. Rett syndrome: clinical review and genetic update

4. The Story of Rett Syndrome: From Clinic to Neurobiology

5. Rett syndrome: The state of clinical and basic research, and future perspectives

Cited by 26 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. Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study;Genes;2024-02-24

2. Cytogenomic epileptology;Molecular Cytogenetics;2023-01-05

3. Svetlana G. Vorsanova (1945–2021);Molecular Cytogenetics;2022-08-19

4. Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis;Molecular Cytogenetics;2022-03-05

5. Cytogenomic landscape of the human brain;Cytogenomics;2021

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