• A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes 

      Hansen, Maren Fridtjofsen; Neckmann, Ulrike; Lavik, Liss Anne; Vold, Trine; Gilde, Bodil; Toft, Ragnhild Karlgård; Sjursen, Wenche (Journal article; Peer reviewed, 2014)
      The purpose of this study was to develop a massive parallel sequencing (MPS) workflow for diagnostic analysis of mismatch repair (MMR) genes using the GS Junior system (Roche). A pathogenic variant in one of four MMR genes, ...
    • Mucosal 5-aminosalicylic acid concentration, drug formulation and mucosal microbiome in patients with quiescent ulcerative colitis 

      Olaisen, Maya; Spigset, Olav; Flatberg, Arnar; Granlund, Atle van Beelen; Brede, wenche Rødseth; Albrektsen, Grethe; Røyset, Elin Synnøve; Gilde, Bodil; Sandvik, Arne Kristian; Martinsen, Tom Christian; Fossmark, Reidar (Journal article; Peer reviewed, 2019)
      Background 5‐aminosalicylic acid (5‐ASA) is the first‐line therapy for ulcerative colitis (UC). 5‐ASA acts locally in the colonic mucosa by numerous proposed mechanisms, and is metabolised by N‐acetyltransferase (NAT). ...