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Article

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

Journal of medical genetics - 1 May 1997

Catchpoole D, Lam W W, Valler D, Temple I K, Joyce J A, Reik W, Schofield P N, Maher E R

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome associated with a characteristic pattern of visceromegaly and predisposition to childhood tumours. BWS is a genetically heterogeneous disorder; most cases are sporadic but approximately 15% are familial and a small number of BWS patients have cytogenetic abnormalities involving chromosome 11p15. Genomic imprinting effects have been implicated...

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Share to Aneuploidy
Share to Chromosomes, Human, Pair 11

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

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Source

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Identifiers

PMID: 9152830
DOI: 10.1136/jmg.34.5.353
PMCID: PMC1050940

Genes

IGF2

Provenance

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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Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.PMID 9152830Read ↗

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

Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

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

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

Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the <i>IGF2–H19</i> domainSemantic proximity Read ↗

Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.Semantic proximity Read ↗

Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway.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 ↗

Paternally Inherited Submicroscopic Duplication at 11p15.5 Implicates Insulin-like Growth Factor II in Overgrowth and Wilms' TumorigenesisSemantic proximity Read ↗

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