Blar i forfatter "Stensland, Hilde Monica Frostad Riise"

Viser treff 1-3 av 3

    • Alpha-mannosidosis: Correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Inherited metabolic diseases 

      Borgwardt, Line; Stensland, Hilde Monica Frostad Riise; Olsen, Klaus Juul; Wibrand, Flemming; Klenow, Helle; Beck, Michael; Amraoui, Yasmina; Arash, Laila; Fogh, Jens; Nilssen, Øivind; Lund, Allan Meldgaard (Journal article; Tidsskriftartikkel; Peer reviewed, 2015-06-06)
      Background: Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal abnormalities. <p>Methods: To study the genotype-phenotype relationship for alpha-mannosidosis 66 patients were included. Based on the predicted ...

    • Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort 

      Jarhelle, Elisabeth; Stensland, Hilde Monica Frostad Riise; Mæhle, Lovise Olaug; Van Ghelue, Marijke (Journal article; Tidsskriftartikkel; Peer reviewed, 2016-08-05)
      Germline mutations in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Molecular screening of these two genes in patients with a family history of breast or ovarian cancer has revealed pathogenic variants as well as genetic variants of unknown significance (VUS). These VUS may cause a challenge in the genetic counseling process regarding clinical management of the patient and the family. ...

    • Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients 

      Jarhelle, Elisabeth; Stensland, Hilde Monica Frostad Riise; Hansen, Geir Åsmund Myge; Skarsfjord, Siri; Jonsrud, Christoffer; Ingebrigtsen, Monica; Strømsvik, Nina; Van Ghelue, Marijke (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-12-27)
      Families with breast and ovarian cancer are often tested for disease associated sequence variants in <i>BRCA1</i> and <i>BRCA2</i>. Pathogenic sequence variants (PVs) in these two genes are known to increase breast and ovarian cancer risks in females. However, in most families no PVs are detected in these two genes. Currently, several studies have identified other genes involved in hereditary breast ...