Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)
Author:
Affiliation:
1. Department of Laboratory Medicine and Pathology; Genomics Laboratory; Mayo Clinic; Rochester Minnesota
2. Department of Clinical Genomics; Mayo Clinic; Rochester Minnesota
3. Department of Neurology; Mayo Clinic; Rochester Minnesota
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40498/fullpdf
Reference18 articles.
1. Wolf-Hirschhorn syndrome: A review and update;Battaglia;American Journal of Medical Genetics Part C Seminars in Medical Genetics,2015
2. Update on the clinical features and natural history of wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision;Battaglia;American Journal of Medical Genetics Part C Seminars in Medical Genetics,2008
3. Synaptic, transcriptional and chromatin genes disrupted in autism;De Rubeis;Nature,2014
4. De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype;Derar;Genetics in Medicine, Epub ahead of print.,2018
5. Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome;Ho;Journal of Medical Genetics,2016
Cited by 31 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. Mechanisms of DNA Methylation Regulatory Function and Crosstalk with Histone Lysine Methylation;Journal of Molecular Biology;2023-12
2. H3K36 methyltransferase NSD1 protects against osteoarthritis through regulating chondrocyte differentiation and cartilage homeostasis;Cell Death & Differentiation;2023-11-27
3. Epigenetic regulation of craniofacial development and disease;Birth Defects Research;2023-11-14
4. Wolf-Hirschhorn syndrome candidate 1 (Whsc1) methyltransferase signals via a Pitx2-miR-23/24 axis to effect tooth development;Journal of Biological Chemistry;2023-11
5. Systematic perturbations of SETD2, NSD1, NSD2, NSD3 and ASH1L reveals their distinct contributions to H3K36 methylation;2023-09-27
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