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Gávpeallaskuvla hms000@post.uit.no +4777646062

Hilde Monica Stensland

  • Elisabeth Jarhelle, Hilde Monica Frostad Riise Stensland, Geir Åsmund Myge Hansen, Siri Hermansen Skarsfjord, Christoffer Jonsrud, Monica Ingebrigtsen et al.:
    Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients
    Scientific Reports 2019 DOI / ARKIV
  • Maria Blomqvist, Marie Falkenberg Smeland, Julia Lindgren, Per Sikora, Hilde Monica Frostad Riise Stensland, Jorge Asin-Cayuela :
    β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA
    Cold Spring Harbor Molecular Case Studies 2019 DOI / FULLTEKST
  • Elisabeth Jarhelle, Hilde Monica Frostad Riise Stensland, Lovise Olaug Mæhle, Marijke Van Ghelue :
    Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort
    Familial Cancer 2016 DOI / ARKIV
  • Line Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus Juul Olsen, Flemming Wibrand, Helle Klenow, Michael Beck et al.:
    Alpha-mannosidosis: Correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Inherited metabolic diseases
    Orphanet Journal of Rare Diseases 2015 DOI / ARKIV
  • Hilde Monica Frostad Riise Stensland, Gabrio Frantzen, Elina Kuokkanen, Elisabeth Kjeldsen, Helle Klenow, Pirkko Heikinheimo et al.:
    amamutdb.no: A Relational Database for MAN2B1 Allelic Variants that Compiles Genotypes, Clinical Phenotypes, and Biochemical and Structural Data of Mutant MAN2B1 in α-Mannosidosis
    Human Mutation 2015 DOI
  • Line Borgwardt, Christine I. Dali, Jens Fogh, Jan-Eric Månsson, Klaus Juel Olsen, Hans C. Beck et al.:
    Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study
    The Journal of Inherited Metabolic Disease (JIMD) 14. Mar 2013 DOI
  • Dag Malm, Hilde Monica Frostad Riise Stensland, Øyvind Edvardsen, Øivind Nilssen :
    The natural course and complications of alpha-mannosidosis-a retrospective and descriptive study
    The Journal of Inherited Metabolic Disease (JIMD) 06. Jun 2013 DOI
  • Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert et al.:
    Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
    Orphanet Journal of Rare Diseases 2013 DOI
  • Linn Greiner-Tollersrud, Thomas Berg, Hilde Monica Frostad Riise Stensland, Gry Evjen, Ole Kristian Tollersrud :
    Bovine Brain Myelin Glycerophosphocholine Choline Phosphodiesterase is an Alkaline Lysosphingomyelinase of the eNPP-Family, Regulated by Lysosomal Sorting
    Neurochemical Research 2013 DOI
  • hilde frostad riise Stensland, Helle Bagterp Klenow, Lam Van Nguyen, gaute Hansen, Dag Malm, Øivind Nilssen :
    Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations
    Human Mutation 2012 DOI
  • Dag Malm, Hilde Monica F Riise Stensland, Øivind Nilssen :
    Glycoproteinoses
    2012 DOI / FULLTEKST
  • Francesca De Marchis, Chiara Balducci, Andrea Pompa, Hilde Monica Frostad Riise Stensland, Marco Guaragno, Rita Pagiotti et al.:
    Human alpha-mannosidase produced in transgenic tobacco plants is processed in human alpha-mannosidosis cell lines
    Plant Biotechnology Journal 2011 DOI
  • E Kuokkanen, hilde frostad riise Stensland, W Smith, Elisabeth Kjeldsen, Lam van Nguyen, Øivind Nilssen et al.:
    Molecular and cellular characterization of novel alpha-mannosidosis mutations
    Human Molecular Genetics 2011 DOI
  • Frédérique Sabourdy, Pierre Labauge, hilde frostad riise Stensland, Michèle Nieto, Violeta L. Garcés, Dimitri Renard :
    A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant
    BMC Medical Genetics 2009 DOI
  • hilde frostad riise Stensland, Emanuele Persichetti, Carmelita Sorriso, gaute Hansen, Lucia Bibi, Silvia Paciotti et al.:
    Identification of two novel beta-mannosidosis-associated sequence variants: Biochemical analysis of beta-mannosidase (MANBA) missense mutations
    Molecular Genetics and Metabolism 2008 DOI
  • G Casteinovo, T Levade, hilde frostad riise Stensland, MJ Nonnon, MA Berges, ole kristian Tollersrud et al.:
    Adult leukoencephalopathy caused by alpha-mannosidosis deficiency
    Revue neurologique (Paris) 2007
  • Siri Briskemyr, Lena Johnsen, Monica Lundberg, Hilde Monica Frostad Riise Stensland, Mona Nystad :
    28-year-old female with familial adenomatous polyposis (FAP) caused by a de novo triple translocation.
    2019
  • Siri Briskemyr, Lena Johnsen, Monica Lundberg, Hilde Monica Frostad Riise Stensland, Mona Nystad :
    28-year-old female with familial adenomatous polyposis (FAP) caused by a de novo triple translocation.
    2019
  • Mona Nystad, Monica Lundberg, Lena Johnsen, hilde frostad riise Stensland, Agnete Jørgensen :
    Implementation of the CytoScan HD platform at the University Hospital of Northern Norway
    Norwegian Society for Human Genetics (NSHG) in Oslo 28.-29.11.2012 2012
  • Øivind Nilssen, hilde frostad riise Stensland, Dag Malm :
    Clinical utility gene card for: alpha-Mannosidosis
    European Journal of Human Genetics 2011 DOI
  • ole kristian Tollersrud, gry Evjen, thomas Berg, hilde frostad riise Stensland :
    Characterisation of two new enzymes involved in lysosomal phospholipid degradation
    The FEBS Journal 2010

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