Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference14 articles.
1. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith-Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci;Azzi;Hum Mol Genet,2009
2. Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases;Azzi;Epigenetics,2010
3. Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues;Begemann;Clin Genet,2010
4. Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster;Buiting;Hum Mutat,2008
5. Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome;Eggermann;Trends Genet,2008a
Cited by 21 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. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis;Clinical Epigenetics;2024-08-01
2. Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features;Molecular Case Studies;2021-10-06
3. Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome;Clinical Epigenetics;2020-10-22
4. Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences;Human Reproduction Update;2020-02-18
5. Molecular mechanisms underlying nuchal hump formation in dolphin cichlid, Cyrtocara moorii;Scientific Reports;2019-12
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