A novelIGF2/H19domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family
出版年份 2016 全文链接
标题
A novelIGF2/H19domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 173, Issue 1, Pages 72-78
出版商
Wiley
发表日期
2016-09-10
DOI
10.1002/ajmg.a.37964
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Mutations of the ImprintedCDKN1CGene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
- (2015) Frederic Brioude et al. HUMAN MUTATION
- 11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency
- (2015) Dorota Jurkiewicz et al. PEDIATRICS INTERNATIONAL
- Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
- (2015) Louise E. Docherty et al. Nature Communications
- High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome
- (2013) Berivan Baskin et al. HUMAN GENETICS
- Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11
- (2012) Jie Hu et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci
- (2012) Matthias Begemann et al. Epigenetics
- Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
- (2012) Matthias Begemann et al. JOURNAL OF MEDICAL GENETICS
- Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome
- (2011) Adriano Bonaldi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases
- (2011) Nicoletta Chiesa et al. HUMAN MOLECULAR GENETICS
- New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects
- (2011) Julie Demars et al. HUMAN MUTATION
- Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation
- (2011) K. Gronskov et al. JOURNAL OF MEDICAL GENETICS
- Epigenotype-phenotype correlations in Silver-Russell syndrome
- (2010) E. L. Wakeling et al. JOURNAL OF MEDICAL GENETICS
- H19 acts as a trans regulator of the imprinted gene network controlling growth in mice
- (2009) A. Gabory et al. DEVELOPMENT
- Beckwith–Wiedemann syndrome
- (2009) Rosanna Weksberg et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions
- (2009) J. Bliek et al. European Journal of Medical Genetics
- 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
- (2009) Salah Azzi et al. HUMAN MOLECULAR GENETICS
- Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family
- (2009) Laura Cardarelli et al. PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started