Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/1471-2350-13-99.pdf
Reference21 articles.
1. Weksberg R, Smith A, Squire J, Sadowski PD: Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet. 2003, 12: 61-68. 10.1093/hmg/ddg003.
2. Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, et al: Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet. 2005, 37 (9): 1003-1007. 10.1038/ng1629.
3. Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, et al: 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab. 2007, 92: 3148-3154. 10.1210/jc.2007-0354. Erratum in: J Clin Endocrinol Metab. 2007 Nov;92(11):4305.
4. Begemann M, Spengler S, Kanber D, Haake A, Baudis M, Leisten I, Binder G, Markus S, Rupprecht T, Segerer H, et al: Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues. Clin Genet. 2010, 80 (1): 83-88.
5. Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, et al: 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. Hum Mol Genet. 2009, 18 (24): 4724-4733. 10.1093/hmg/ddp435.
Cited by 8 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 DNA methylation analysis of imprinted genes in cattle from somatic cell nuclear transfer;Theriogenology;2022-07
2. Differences of DNA methylation patterns in the placenta of large for gestational age infant;Medicine;2020-09-25
3. Variation in DNA methylation in the KvDMR1 (ICR2) region in first-trimester human pregnancies;Fertility and Sterility;2019-06
4. Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes;Genetics Research;2019
5. Corpus Callosum Abnormalities and Short Femurs in Beckwith–Wiedemann Syndrome: A Report of Two Fetal Cases;Fetal and Pediatric Pathology;2018-11-02
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