Now showing items 3-6 of 6

  • Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia 

    Brønstad, Ingeborg; Breivik, Lars Ertesvåg; Methlie, Paal; Wolff, Anette Susanne Bøe; Bratland, Eirik; Nermoen, Ingrid; Løvås, Kristian; Husebye, Eystein Sverre (Bioscientifica, 2014)
    In about 95% of cases, congenital adrenal hyperplasia (CAH) is caused by mutations in CYP21A2 gene encoding steroid 21-hydroxylase (21OH). Recently, we have reported four novel CYP21A2 variants in the Norwegian population ...
    Journal article
  • Genome-wide copy number variation (CNV) in patients with autoimmune Addison’s disease 

    Brønstad, Ingeborg; Wolff, Anette S. B.; Løvås, Kristian; Knappskog, Per; Husebye, Eystein Sverre (BioMed Central, 2011-08-18)
    Background: Addison’s disease (AD) is caused by an autoimmune destruction of the adrenal cortex. The pathogenesis is multi-factorial, involving genetic components and hitherto unknown environmental factors. The aim of ...
    Peer reviewedJournal article
  • High cardiac background activity limits 99mTc-MIBI radioguided surgery in aortopulmonary window parathyroid adenomas 

    Schwarzlmüller, Thomas; Brauckhoff, Katrin; Løvås, Kristian; Biermann, Martin; Brauckhoff, Michael (BioMed Central, 2014-04-23)
    Background: Radioguided surgery using 99m-Technetium-methoxyisobutylisonitrile (99mTc-MIBI) has been recommended for the surgical treatment of mediastinal parathyroid adenomas. However, high myocardial 99mTc-MIBI uptake ...
    Journal article
  • Quality of Life in European Patients with Addison’s Disease: Validity of the Disease-Specific Questionnaire AddiQoL 

    Øksnes, Marianne; Bensing, Sophie; Hulting, Anna-Lena; Kämpe, Olle; Hackemann, Annika; Meyer, Gesine; Badenhoop, Klaus; Betterle, Corrado; Parolo, Anna; Giordano, Roberta; Falorni, Alberto; Papierska, Lucyna; Jeske, Wojciech; Kasperlik-Zaluska, Anna A.; Chatterjee, V. Krishna K.; Husebye, Eystein Sverre; Løvås, Kristian (Endocrine Society, 2012-02)
    Context: Patients with Addison’s disease (AD) self-report impairment in specific dimensions on well-being questionnaires. An AD-specific quality-of-life questionnaire (AddiQoL) was developed to aid evaluation of ...
    Journal article