Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

Published:2008-01-16 Issue:4 Volume:16 Page:453-461
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Boonen Susanne E,Pörksen Sven,Mackay Deborah J G,Oestergaard Elsebet,Olsen Birthe,Brondum-Nielsen Karen,Temple I Karen,Hahnemann Johanne M D

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201993.pdf

Reference22 articles.

1. Mackay DJG, Hahnemann JMD, Boonen SE et al: Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Hum Genet 2006; 119: 179–184.

2. Arima T, Kamikihara T, Hayashida T et al: ZAC, LIT1(KCNQ1OT1) and p57KIP2(CDKN1C) are in an imprinted gene network that may play a role in Beckwith–Wiedemann syndrome. Nucleic Acids Res 2005; 33: 2650–2660.

3. Mackay DJG, Boonen SE, Clayton-Smith J et al: A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet 2006; 120: 262–269.

4. Rossignol S, Steunou V, Chalas C et al: The epigenetic imprinting defect of patients with Beckwith–Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. J Med Genet 2006; 43: 902–907.

5. Mackay DJG, Temple IK, Shield JPH, Robinson DO : Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. Hum Genet 2005; 116: 255–261.

Cited by 47 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. Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?;Frontiers in Cell and Developmental Biology;2023-08-10

3. Epigenetic Regulation Disturbances on Gene Expression in Imprinting Diseases;Molecular Biology;2022-01

4. NLRP7: From inflammasome regulation to human disease;Immunology;2021-06-30

5. Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith–Wiedemann and Silver–Russell syndromes;Journal of Genetic Medicine;2021-06-30

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

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