Blar i forfatter "Hansen, Geir Åsmund Myge"

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    • ABCC9-related intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9 

      Smeland, Marie Falkenberg; McClenaghan, Conor; Roessler, Helen I.; Savelberg, Sanne; Hansen, Geir Åsmund Myge; Hjellnes, Helene; Arntzen, Kjell Arne; Müller, Kai Ivar; Dybesland, Andreas R.; Harter, Theresa; Sala-Rabanal, Monica; Emfinger, Chris H.; Huang, Yan; Singareddy, Soma S.; Gunn, Jamie; Wozniak, David F.; Kovacs, Attila; Massink, Maarten; Tessadori, Federico; Kamel, Sarah M.; Bakkers, Jeroen; Remedi, Maria S.; Van Ghelue, Marijke; Nichols, Colin G.; van Haaften, Gijs (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-10-01)
      Mutations in genes encoding K<sub>ATP</sub> channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual disability, similar facies, myopathy, and cerebral white matter hyperintensities, with cardiac systolic dysfunction present in the two oldest patients. Patients are ...

    • 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 ...