Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion

Published:2020-10 Issue:10 Volume:63 Page:104010
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Carroll Renee,Shaw Marie,Arvio Maria,Gardner Alison,Kumar Raman,Hodgson Bree,Heron Sarah,McKenzie Fiona,Järvelä Irma,Gecz Jozef

Funder

Channel 7 Children's Research Foundation

NHMRC Senior Research fellowship

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference19 articles.

1. Closing the gender gap in fragile X syndrome: review on females with FXS and preliminary Research findings;Bartholomay;Brain Sci.,2019

2. Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?;Boivin;Eur. J. Med. Genet.,2018

3. Fragile X mental retardation protein (FMRP) interacting proteins exhibit different expression patterns during development;Bonaccorso;Int. J. Dev. Neurosci.,2015

4. Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis;Caminsky;F1000Res,2014

5. Regulation of fragile X mental retardation 1 protein by C-terminus of Hsc70-interacting protein depends on its phosphorylation status;Choi;Biochem. Biophys. Res. Commun.,2014

Cited by 4 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. Third-generation sequencing for genetic disease;Clinica Chimica Acta;2023-11

2. Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family;Frontiers in Genetics;2023-09-07

3. Syndromic obesity with neurodevelopmental delay: Opportunities for targeted interventions;European Journal of Medical Genetics;2022-03

4. Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes;Genes;2021-10-22

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