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Article

Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes.

Human mutation - 1 Apr 2013

Court Franck, Martin-Trujillo Alex, Romanelli Valeria, Garin Intza, Iglesias-Platas Isabel, Salafsky Ira, Guitart Miriam, Perez de Nanclares Guiomar, Lapunzina Pablo, Monk David

Abstract excerpt

Genomic imprinting is the parent-of-origin-specific allelic transcriptional silencing observed in mammals, which is governed by DNA methylation established in the gametes and maintained throughout the development. The frequency and extent of epimutations associated with the nine reported imprinting syndromes varies because it is evident that aberrant preimplantation maintenance of imprinted differentially...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23335487
DOI: 10.1002/humu.22276

Genes

ZFP57
NLRP2
NLRP7
SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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