Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.

European journal of medical genetics - 1 Jan 2000

De Crescenzo Agostina, Coppola Filomena, Falco Pietro, Bernardo Italo, Ausanio Gaetano, Cerrato Flavia, Falco Luigi, Riccio Andrea

Abstract excerpt

The overgrowth disorder Beckwith-Wiedemann syndrome (BWS) is associated with dysregulation of imprinted genes at chromosome 11p15.5. The molecular defects are heterogeneous but most of the cases are associated with defective DNA methylation at either one of two Imprinting Control Regions (IC1 and IC2) or Uniparental paternal Disomy (UPD) at 11p15.5. In rare cases, the BWS phenotype has been found associated with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Beckwith-Wiedemann Syndrome
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Order

Share to Genomic Imprinting

Share to Insulin-Like Growth Factor II

Share to RNA, Long Noncoding

Share to RNA, Untranslated

Share to Uniparental Disomy

Source

Open in PubMed Open full text

Identifiers

PMID: 21571108
DOI: 10.1016/j.ejmg.2011.04.009
PMCID: PMC3133689

Genes

CTCF
IGF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.PMID 21571108Read ↗

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumourSemantic proximity Read ↗

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.Semantic proximity Read ↗

A novel large deletion of the ICR1 region including H19 and putative enhancer elements.Semantic proximity Read ↗

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.Semantic proximity Read ↗

The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactomeSemantic proximity Read ↗

A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locusSemantic proximity Read ↗

The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse modelSemantic proximity Read ↗

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.Semantic proximity Read ↗

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.Semantic proximity Read ↗

Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor.Semantic proximity Read ↗

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.