The Expanding World of Myotonic Dystrophies: How Can They Be Detected?
Author:
Affiliation:
1. Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
2. Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical),General Medicine
Link
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2010.0073
Reference72 articles.
1. Prenatal Diagnosis of Myotonic Dystrophy Using Fetal DNA Obtained from Maternal Plasma
2. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
3. Premutation allele pool in myotonic dystrophy type 2
4. Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect
5. Use of RNA Fluorescence In Situ Hybridization in the Prenatal Molecular Diagnosis of Myotonic Dystrophy Type I
Cited by 9 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. WarpSTR: determining tandem repeat lengths using raw nanopore signals;Bioinformatics;2023-06-01
2. WarpSTR: Determining tandem repeat lengths using raw nanopore signals;2022-11-05
3. Dante: genotyping of known complex and expanded short tandem repeats;Bioinformatics;2018-09-08
4. The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype;Acta Neuropathologica;2014-02-04
5. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study;The Lancet Neurology;2013-10
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