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Article

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

7 May 2014

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Share to Epigenetics and DNA Methylation
Share to Genetic Syndromes and Imprinting
Share to Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 24801763
DOI: 10.1038/ejhg.2014.72

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Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32PMID 24801763Read ↗

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndromeSemantic proximity Read ↗

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.Semantic proximity Read ↗

The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control CentersSemantic proximity Read ↗

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.Semantic proximity Read ↗

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.Semantic proximity Read ↗

Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disordersSemantic proximity Read ↗

Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.Semantic proximity Read ↗

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.Semantic proximity Read ↗

Molecular characterization of temple syndrome families with 14q32 epimutations.Semantic proximity Read ↗

Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndromeSemantic proximity Read ↗

Genomic Architecture and Disease Implications of Human Chromosome 11: From β-Globin Regulation to 11q13 Oncogenic Amplification and use meta analysisSemantic proximity Read ↗

Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32.Semantic proximity Read ↗

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