Blar i Bergen Open Research Archive på forfatter "Jonsrud, Christoffer"
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Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers
Sjursen, Wenche; Haukanes, Bjørn Ivar; Grindedal, Eli Marie; Aarset, Harald; Stormorken, Astrid Tenden; Engebretsen, Lars Fredrik; Jonsrud, Christoffer; Bjørnevoll, Inga; Andresen, Per Arne; Ariansen, Sarah; Lavik, Liss Anne S.; Gilde, Bodil; Bowitz-Lothe, Inger Marie; Mæhle, Lovise; Møller, Pål (Peer reviewed; Journal article, 2010-09)Background: Reported prevalence, penetrance and expression of deleterious mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences in the clinical criteria used to select families ... -
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
Jensen, Synnøve; Müller, Kai Ivar; Mellgren, Svein Ivar; Bindoff, Laurence Albert; Rasmussen, Magnhild; Ørstavik, Kristin; Jonsrud, Christoffer; Tveten, Kristian; Nilssen, Øivind; Van Ghelue, Marijke; Arntzen, Kjell Arne (Journal article; Peer reviewed, 2022)We aimed to investigate the epidemiology and natural history of FKRP-related limb-girdle muscular dystrophy R9 (LGMDR9) in Norway. We identified 153 genetically confirmed subjects making the overall prevalence 2.84/100,000, ...