Now showing items 1-2 of 2

    • High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta 

      Daelemans, Caroline; Ritchie, Matthew E; Smits, Guillaume; Abu-Amero, Sayeda; Sudbery, Ian M; Forrest, Matthew S; Campino, Susana et al. (2010-04-19)
      Abstract Background Imprinted genes show expression from one parental allele only and are important for development and behaviour. This extreme mode of allelic imbalance has been described for approximately 56 human genes. ...
    • Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: A challenge for molecular analysis and genetic counseling 

      Eggermann, Thomas; Brioude, Frédéric; Russo, Silvia; Lombardi, Maria Paola; Bliek, Jet; Maher, Eamonn Richard; Larizza, Lidia et al. (NPG, 2015-10-28)
      Beckwith–Wiedemann and Silver–Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are ...