Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1
Open Access
- 24 August 2011
- journal article
- case report
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 20 (2), 240-243
- https://doi.org/10.1038/ejhg.2011.166
Abstract
No abstract availableThis publication has 10 references indexed in Scilit:
- Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprintingAmerican Journal of Medical Genetics Part A, 2010
- Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disordersHuman Molecular Genetics, 2009
- Beckwith–Wiedemann syndromeEuropean Journal of Human Genetics, 2009
- Genomic imprinting mechanisms in mammalsMutation research. Reviews in mutation research, 2008
- Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumorNature Genetics, 2008
- Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57Nature Genetics, 2008
- Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumourHuman Molecular Genetics, 2008
- Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith–Wiedemann syndrome and Wilms' tumorProceedings of the National Academy of Sciences of the United States of America, 2005
- Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndromeNature Genetics, 2004
- A Dyad Oct-binding Sequence Functions as a Maintenance Sequence for the Unmethylated State within theH19/Igf2-imprinted Control RegionOnline Journal of Public Health Informatics, 2002