Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

Federica Maria Valente, Angela Sparago, Andrea Freschi, Katherine Hill-Harfe, Saskia M. Maas, Suzanna Gerarda Maria Frints, Marielle Alders, Laura Pignata, Monica Franzese, Claudia Angelini, Diana Carli, Alessandro Mussa, Andrea Gazzin, Fulvio Gabbarini, Basilia Acurzio, Giovanni Battista Ferrero, Jet Bliek, Charles A. Williams, Andrea Riccio, Flavia Cerrato

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1808-1820
Number of pages13
JournalGenetics in Medicine
Volume21
Issue number8
DOIs
Publication statusPublished - Aug 2019

Keywords

  • Beckwith-Wiedemann syndrome
  • imprinting disorders
  • genomic imprinting
  • long QT syndrome
  • DNA methylation
  • LONG-QT SYNDROME
  • COPY NUMBER VARIATIONS
  • CONTROL REGION
  • RNA
  • GENE
  • PREVALENCE
  • MECHANISMS
  • MUTATIONS
  • DELETION

Cite this

Valente, F. M., Sparago, A., Freschi, A., Hill-Harfe, K., Maas, S. M., Frints, S. G. M., Alders, M., Pignata, L., Franzese, M., Angelini, C., Carli, D., Mussa, A., Gazzin, A., Gabbarini, F., Acurzio, B., Ferrero, G. B., Bliek, J., Williams, C. A., Riccio, A., & Cerrato, F. (2019). Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus. Genetics in Medicine, 21(8), 1808-1820. https://doi.org/10.1038/s41436-018-0416-7