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Article

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.

Epigenomics - 1 Jun 2016

Bens Susanne, Kolarova Julia, Beygo Jasmin, Buiting Karin, Caliebe Almuth, Eggermann Thomas, Gillessen-Kaesbach Gabriele, Prawitt Dirk, Thiele-Schmitz Susanne, Begemann Matthias, Enklaar Thorsten, Gutwein Jana, Haake Andrea, Paul Ulrike, Richter Julia, Soellner Lukas, Vater Inga, Monk David, Horsthemke Bernhard, Ammerpohl Ole, Siebert Reiner

Abstract excerpt

AIM: To characterize the genotypic and phenotypic extent of multilocus imprinting disturbances (MLID). MATERIALS & METHODS: We analyzed 37 patients with imprinting disorders (explorative cohort) for DNA methylation changes using the Infinium HumanMethylation450 BeadChip. For validation, three independent cohorts with imprinting disorders or cardinal features thereof were analyzed (84 patients with imprinting...

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Identifiers

PMID: 27323310
DOI: 10.2217/epi-2016-0007

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ZDBF2

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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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