Blar i Faculty of Medicine på forfatter "Haukanes, Bjørn Ivar"

Viser treff 1-12 av 12

    • BRCA1 Norway: comparison of classifcation for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories 

      Hovland, Henrikke Nilsen; Al-Adhami, Rafal; Ariansen, Sarah Louise; Van Ghelue, Marijke; Sjursen, Wenche; Anfinsen, Sigrid Lima; Bolstad, Marte; Berger, Amund Holte; Vetti, Hildegunn Høberg; Knappskog, Per Morten; Haukanes, Bjørn Ivar; Aukrust, Ingvild; Ognedal, Elisabet (Journal article; Peer reviewed, 2022)
      Pathogenic germline variants in Breast cancer susceptibility gene 1 (BRCA1) predispose carriers to hereditary breast and ovarian cancer (HBOC). Through genetic testing of patients with suspected HBOC an increasing number ...

    • CDR2 antigen and Yo antibodies 

      Totland, Cecilie; Aarskog, Nina K.; Eichler, Tilo W.; Haugen, Mette; Nøstbakken, Jane K.; Monstad, Sissel E.; Salvesen, Helga Birgitte; Mørk, Sverre; Haukanes, Bjørn Ivar; Vedeler, Christian A. (Peer reviewed; Journal article, 2011)
      Paraneoplastic cerebellar degeneration (PCD) is often associated with Yo antibodies that are directed against human cerebellar degeneration-related protein 2 (CDR2). Such antibodies may also be found in ovarian cancer ...

    • 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 ...

    • Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay 

      Berland, Siren; Haukanes, Bjørn Ivar; Juliusson, Petur Benedikt; Houge, Gunnar (Journal article; Peer reviewed, 2022)
      Background: Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-Wiedemann syndrome (BWS), while gain-of-function variants in the gene’s PCNA binding motif cause a growth-restricted condition called ...

    • Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features 

      Berland, Siren; Rustad, Cecilie; Bentsen, Mariann; Wollen, Embjørg Julianne; Turowski, Gitta Erika; Johansson, Stefan; Houge, Gunnar Douzgos; Haukanes, Bjørn Ivar (Journal article; Peer reviewed, 2021)
      Here we describe for the first time double paternal uniparental isodisomy (iUPD) 7 and 15 in a baby boy with features in the Beckwith–Wiedemann syndrome spectrum (BWSp) (placentomegaly, hyperinsulinism, enlarged viscera, ...

    • Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions 

      Hovland, Henrikke Nilsen; Mchaina, Eunice Kabanyana; Vetti, Hildegunn Høberg; Ariansen, Sarah Louise; Sjursen, Wenche; Van Ghelue, Marijke; Haukanes, Bjørn Ivar; Knappskog, Per Morten; Aukrust, Ingvild; Berge, Elisabet Ognedal (Journal article; Peer reviewed, 2023-01-19)
      The BRCA1 protein is implicated in numerous important cellular processes to prevent genomic instability and tumorigenesis, and pathogenic germline variants predispose carriers to hereditary breast and ovarian cancer (HBOC). ...

    • GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies 

      Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E.; Boman, Helge; Haukanes, Bjørn Ivar; Bruland, Ove; Roque, Francisco; Jonassen, Inge; Blomqvist, Maria; Telstad, Wenche; Månsson, Jan-Eric; Knappskog, Per; Bindoff, Laurence (Peer reviewed; Journal article, 2017-01-04)
      Background: With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families ...

    • The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance? 

      Vetti, Hildegunn Høberg; Ognedal, Elisabet; Buisson, Adrien; Vamre, Tone Bøe Aaman; Ariansen, Sarah; Hoover, Jacqueline M.; Eide, Geir Egil; Houge, Gunnar; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Bjorvatn, Cathrine; Knappskog, Per Morten (Peer reviewed; Journal article, 2020-03-20)
      Rare sequence variants in the non-coding part of the BRCA genes are often reported as variants of uncertain significance (VUS), which leave patients and doctors in a challenging position. The aim of this study was to ...

    • LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions 

      Lybæk, Helle; Robson, Michael; de Leeuw, Nicole; Hehir-Kwa, Jayne Y.; Jeffries, Aaron; Haukanes, Bjørn Ivar; Berland, Siren; de Bruijn, Diederik; Mundlos, Stefan; Spielmann, Malte; Houge, Gunnar Douzgos (Journal article; Peer reviewed, 2022)
      LRFN5 is a regulator of synaptic development and the only gene in a 5.4 Mb mammalian-specific conserved topologically associating domain (TAD); the LRFN5 locus. An association between locus structural changes and developmental ...

    • MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing 

      Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche; Boman, Helge; Knappskog, Per; Bindoff, Laurence (Peer reviewed; Journal article, 2013-01-03)
      Background: Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two ...

    • Paraneoplastic syndrome-associated neuronal antibodies in adult ADHD 

      Haukanes, Bjørn Ivar; Hegvik, Tor-Arne; Eichler, Tilo Wolf; Haavik, Jan; Vedeler, Christian A. (Peer reviewed; Journal article, 2015-09-01)
      A high seroprevalence of Yo antibodies targeting cerebellar Purkinje cells was recently reported in children with attention deficit/hyperactivity disorder (ADHD). We investigated the presence of 8 paraneoplastic neurological ...

    • STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity 

      Heimdal, Ketil; Sanchez-Guixé, Monica; Aukrust, Ingvild; Bollerslev, Jens; Bruland, Ove; Jablonski, Greg Eigner; Erichsen, Anne Kjersti; Gude, Einar; Koht, Jeanette A.; Erdal, Sigrid; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Boman, Helge; Bjørkhaug, Lise; Tallaksen, Chantal M. E.; Knappskog, Per; Johansson, Stefan (Peer reviewed; Journal article, 2014-09-26)
      Background: A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is ...