Blar i forfatter Det helsevitenskapelige fakultet "Fougner, Kristian J"

Viser treff 1-3 av 3

    • Epidemiology and health related quality of life in hypoparathyroidism in Norway 

      Astor, Marianne; Løvås, Kristian; Debowska, Aleksandra; Eriksen, Erik Fink; Evang, Johan Arild; Fossum, Jan Christian; Fougner, Kristian J; Holte, Synnøve E.; Lima, Kari; Moe, Ragnar Bekkhus; Myhre, Anne Grethe; Kemp, E. Helen; Nedrebø, Bjørn Gunnar; Svartberg, Johan; Husebye, Eystein Sverre (Journal article; Tidsskriftartikkel; Peer reviewed, 2016-05-17)
      <b>Objective:</b> The epidemiology of hypoparathyroidism (HP) is largely unknown. We aimed to determine prevalence, etiologies, health related quality of life (HRQOL) and treatment pattern of HP.<br> <b>Methods:</b> Patients with HP and 22q11 deletion syndrome (DiGeorge syndrome) were identified in electronic hospital registries. All identified patients were invited to participate in a survey. ...

    • GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility 

      Eriksson, Daniel; Røyrvik, Ellen Christine; Aranda-Guillen, Maribel; Berger, Amund Holte; Landegren, Nils; Artaza, Haydee; Hallgren, Åsa; Grytaas, Marianne; Strøm, Sara; Bratland, Eirik; Botusan, Ileana; Oftedal, Bergithe Eikeland; Breivik, Lars Ertesvåg; Vaudel, Marc; Helgeland, Øyvind; Falorni, Alberto; Jørgensen, Anders Palmstrøm; Hulting, Anna-Lena; Svartberg, Johan; Ekwall, Olov; Fougner, Kristian J; Wahlberg, Jeanette; Nedrebø, Bjørn Gunnar; Dahlqvist, Per; Study group, Norwegian Addison Registry; Study Group, Swedish Addison Registry; Knappskog, Per Morten; Wolff, Anette Susanne Bøe; Bensing, Sophie; Johansson, Stefan; Kämpe, Olof; Husebye, Eystein Sverre (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-02-11)
      Autoimmune Addison’s disease (AAD) is characterized by the autoimmune destruction of the adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report the first genome-wide association study on AAD, which identifies nine independent risk loci (P < 5 × 10−8). In addition to loci implicated in lymphocyte function and development shared with other ...

    • A longitudinal follow-up of autoimmune polyendocrine syndrome type 1 

      Bruserud, Øyvind; Oftedal, Bergithe Eikeland; Landegren, Nils; Erichsen, Martina Moter; Bratland, Eirik; Lima, Kari; Jørgensen, Anders Palmstrøm; Myhre, Anne Grethe; Svartberg, Johan; Fougner, Kristian J; Bakke, Åsne; Nedrebø, Bjørn Gunnar; Mella, Bjarne; Breivik, Lars Ertesvåg; Viken, Marte K; Knappskog, Per; Cuida Marthinussen, Ileana Mihaela; Løvås, Kristian; Kämpe, Olle; Wolff, Anette Susanne Bøe; Husebye, Eystein Sverre (Journal article; Tidsskriftartikkel; Peer reviewed, 2016-06-02)
      <b>Context:</b> Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disease defined by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insuffi- ciency, and chronic mucocutaneous candidiasis (CMC). Information on longitudinal follow-up of APS1 is sparse. <b>Objective:</b> To describe the phenotypes of APS1 and correlate the ...