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Article

Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.

Hormone research - 1 Jan 2000

Gaston V, Le Bouc Y, Soupre V, Vazquez M P, Gicquel C

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder involving developmental anomalies, tissue and organ hyperplasia and an increased risk of embryonic tumours (most commonly Wilms' tumour). This multigenic disorder is caused by dysregulation of the expression of imprinted genes in the 11p15 chromosomal region. It may involve paternal uniparental disomy (UPD), loss of imprinting of the IGF2 gene, maternal...

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Share to Chromosomes, Human, Pair 11
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Share to Cyclin-Dependent Kinase Inhibitor p57

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11182628
DOI: 10.1159/000063429

Genes

IGF2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.PMID 11182628Read ↗

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors.Semantic proximity Read ↗

Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15.Semantic proximity Read ↗

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.Semantic proximity Read ↗

Genomic imprinting of human p57KIP2 and its reduced expression in Wilms' tumors.Semantic proximity Read ↗

Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

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

Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.Semantic proximity Read ↗

p57K1P2 is expressed in Wilms' tumor with LOH of 11p15.5.Semantic proximity Read ↗

Molecular genetics of Beckwith-Wiedemann syndromeSemantic proximity Read ↗

Molecular genetics of Wiedemann-Beckwith syndromeSemantic proximity Read ↗

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