Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

@article{Bliek2009HypomethylationAM,
  title={Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome},
  author={Jet Bliek and Gaetano Verde and Jonathan L.A. Callaway and Saskia M. Maas and Agostina De Crescenzo and Angela Sparago and Flavia Cerrato and Silvia Russo and Serena Ferraiuolo and Maria Michela Rinaldi and Rita Fischetto and Faustina Lalatta and L Giordano and Paola Ferrari and Maria Vittoria Cubellis and L Larizza and Isabel Karen Temple and Marcel M. A. M. Mannens and Deborah J G Mackay and Andrea Riccio},
  journal={European Journal of Human Genetics},
  year={2009},
  volume={17},
  pages={611-619}
}
Genomic imprinting is an epigenetic phenomenon restricting gene expression in a manner dependent on parent of origin. Imprinted gene products are critical regulators of growth and development, and imprinting disorders are associated with both genetic and epigenetic mutations, including disruption of DNA methylation within the imprinting control regions (ICRs) of these genes. It was recently reported that some patients with imprinting disorders have a more generalised imprinting defect, with… CONTINUE READING
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