Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene

Published:2020-03 Issue:3 Volume:63 Page:103735
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Barrie Elizabeth S.,Cottrell Catherine E.,Gastier-Foster Julie,Hickey Scott E.,Patel Anup D.,Santoro Stephanie L.,Alfaro Maria P.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference21 articles.

1. X-inactivation profile reveals extensive variability in X-linked gene expression in females;Carrel;Nature,2005

2. Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation;Cotton;Hum. Mol. Genet.,2015

3. Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy;Ewans;Eur. J. Hum. Genet.,2017

4. Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features;Fieremans;Eur. J. Med. Genet.,2015

5. Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis;Gandomi;J. Genet. Couns.,2014

Cited by 12 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. C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations;Journal of Human Genetics;2024-01-10

2. Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions;Journal of Cell Biology;2023-10-03

3. Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey;Children;2023-08-24

4. IQSEC2 ‐related encephalopathy in males due to missense variants in the pleckstrin homology domain;Clinical Genetics;2022-04-06

5. Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients;Molecular Genetics & Genomic Medicine;2022-02-17

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