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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

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  2. DNA methylation holds prognostic information in relapsed precursor B-cell acute lymphoblastic leukemia

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  3. 36 h fasting of young men influences adipose tissue DNA methylation of LEP and ADIPOQ in a birth weight-dependent manner

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  1. Development, behaviour and autism in individuals with SMC1A variants

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

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  • Thomas Eggermann
  • Guiomar Perez de Nanclares
  • Eamonn R Maher
  • I Karen Temple
  • Zeynep Tümer
  • David Monk
  • Deborah J G Mackay
  • Karen Grønskov
  • Andrea Riccio
  • Agnès Linglart
  • Irène Netchine
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Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a great expansion in the range of alterations in regulation, dosage or DNA sequence shown to disturb imprinted gene expression, and the correspondingly broad range of resultant clinical syndromes. At the same time, however, it has become clear that this diversity of IDs has common underlying principles, not only in shared molecular mechanisms, but also in interrelated clinical impacts upon growth, development and metabolism. Thus, detailed and systematic analysis of IDs can not only identify unifying principles of molecular epigenetics in health and disease, but also support personalisation of diagnosis and management for individual patients and families.

Original languageEnglish
JournalClinical Epigenetics
Volume7
Pages (from-to)123
ISSN1868-7075
DOIs
Publication statusPublished - 20 Nov 2015

ID: 45841798