Blar i Department of Clinical Medicine på tidsskrift "European Journal of Human Genetics"

Viser treff 1-2 av 2

    • Evidence for anticipation in Beckwith-Wiedemann syndrome 

      Berland, Siren; Appelbäck, Mia Sanby; Bruland, Ove; Beygo, Jasmin; Buiting, Karin; Mackay, Deborah J.G.; Temple, I. Karen; Houge, Gunnar (Journal article; Peer reviewed, 2013)
      Classical Beckwith–Wiedemann syndrome (BWS) was diagnosed in two sisters and their male cousin. The children’s mothers and a third sister were tall statured (178, 185 and 187 cm) and one had mild BWS features as a child. ...

    • Identity-by-descent mapping in a Scandinavian multiple sclerosis cohort 

      Westerlind, Helga; Imrell, Kerstin; Ramanujam, Ryan; Myhr, Kjell-Morten; Celius, Elisabeth Gulowsen; Harbo, Hanne Flinstad; Oturai, Annette Bang; Hamsten, Anders; Alfredsson, Lars; Olsson, Tomas; Kockum, Ingrid; Koski, Timo; Hillert, Jan (Peer reviewed; Journal article, 2015)
      In an attempt to map chromosomal regions carrying rare gene variants contributing to the risk of multiple sclerosis (MS), we identified segments shared identical-by-descent (IBD) using the software BEAGLE 4.0’s refined IBD ...