Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR

Published:2023-01 Issue:1 Volume:66 Page:104671
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Urakawa Tatsuki,Ozawa Junichi,Tanaka Masato,Narusawa Hiromune,Matsuoka Kentaro,Fukami Maki,Nagasaki Keisuke,Kagami Masayo

Funder

The Takeda Foundation

Naito Foundation

Takeda Science Foundation

National Center for Child Health and Development

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

1. The landscape of genomic imprinting across diverse adult human tissues;Baran;Genome Res.,2015

2. A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome;Beygo;Eur. J. Hum. Genet.,2016

3. Endocrine changes in pregnancy;Braunstein,2007

4. Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement;Brioude;Nat. Rev. Endocrinol.,2018

5. The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases;Chiesa;Hum. Mol. Genet.,2012

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