Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation
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Published in The New England journal of medicine (26.04.2012)
Published in The New England journal of medicine (26.04.2012)
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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism
Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.
Published in American journal of human genetics (10.09.2010)
Published in American journal of human genetics (10.09.2010)
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The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?
Høberg-Vetti, Hildegunn, 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
Published in European journal of human genetics : EJHG (01.08.2020)
Published in European journal of human genetics : EJHG (01.08.2020)
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Prolonged intestinal transit and diarrhea in patients with an activating GUCY2C mutation
von Volkmann, Hilde L, Brønstad, Ingeborg, Gilja, Odd Helge, R Tronstad, Rune, Sangnes, Dag Andre, Nortvedt, Ragnar, Hausken, Trygve, Dimcevski, Georg, Fiskerstrand, Torunn, Nylund, Kim
Published in PloS one (28.09.2017)
Published in PloS one (28.09.2017)
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Identification of a Gene for Renal-Hepatic-Pancreatic Dysplasia by Microarray-Based Homozygosity Mapping
Fiskerstrand, Torunn, Houge, Gunnar, Sund, Staale, Scheie, David, Leh, Sabine, Boman, Helge, Knappskog, Per M
Published in The Journal of molecular diagnostics : JMD (2010)
Published in The Journal of molecular diagnostics : JMD (2010)
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The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
Marbach, Felix, Rustad, Cecilie F., Riess, Angelika, Đukić, Dejan, Hsieh, Tzung-Chien, Jobani, Itamar, Prescott, Trine, Bevot, Andrea, Erger, Florian, Houge, Gunnar, Redfors, Maria, Altmueller, Janine, Stokowy, Tomasz, Gilissen, Christian, Kubisch, Christian, Scarano, Emanuela, Mazzanti, Laura, Fiskerstrand, Torunn, Krawitz, Peter M., Lessel, Davor, Netzer, Christian
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases
Oftedal, Bergithe E., Hellesen, Alexander, Erichsen, Martina M., Bratland, Eirik, Vardi, Ayelet, Perheentupa, Jaakko, Kemp, E. Helen, Fiskerstrand, Torunn, Viken, Marte K., Weetman, Anthony P., Fleishman, Sarel J., Banka, Siddharth, Newman, William G., Sewell, W.A.C., Sozaeva, Leila S., Zayats, Tetyana, Haugarvoll, Kristoffer, Orlova, Elizaveta M., Haavik, Jan, Johansson, Stefan, Knappskog, Per M., Løvås, Kristian, Wolff, Anette S.B., Abramson, Jakub, Husebye, Eystein S.
Published in Immunity (Cambridge, Mass.) (16.06.2015)
Published in Immunity (Cambridge, Mass.) (16.06.2015)
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Disruption of a Regulatory System Involving Cobalamin Distribution and Function in a Methionine-dependent Human Glioma Cell Line
Fiskerstrand, Torunn, Riedel, Bettina, Ueland, Per M., Seetharam, Bellur, Pezacka, Ewa H., Gulati, Sumedha, Bose, Santanu, Banerjee, Ruma, Berge, Rolf K., Refsum, Helga
Published in The Journal of biological chemistry (07.08.1998)
Published in The Journal of biological chemistry (07.08.1998)
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A Cross-Sectional Study of the Prevalence of Gastrointestinal Symptoms and Pathology in Patients With Common Variable Immunodeficiency
Jørgensen, Silje F, Reims, Henrik M, Frydenlund, Didrik, Holm, Kristian, Paulsen, Vemund, Michelsen, Annika E, Jørgensen, Kristin K, Osnes, Liv T, Bratlie, Jorunn, Eide, Tor J, Dahl, Christen P, Holter, Ellen, Tronstad, Rune R, Hanevik, Kurt, Brattbakk, Hans-Richard, Kaveh, Fatemeh, Fiskerstrand, Torunn, Kran, Anne-Marte B, Ueland, Thor, Karlsen, Tom H, Aukrust, Pål, Lundin, Knut E A, Fevang, Børre
Published in The American journal of gastroenterology (01.10.2016)
Published in The American journal of gastroenterology (01.10.2016)
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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C.J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.
Published in American journal of human genetics (11.11.2011)
Published in American journal of human genetics (11.11.2011)
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Plasma levels of guanylins are reduced in patients with Crohn's disease
von Volkmann, Hilde L, Brønstad, Ingeborg, Tronstad, Rune R, Dizdar, Vernesa, Nylund, Kim, Hanevik, Kurt, Hausken, Trygve, Gilja, Odd Helge, Fiskerstrand, Torunn
Published in Scandinavian journal of gastroenterology (02.04.2020)
Published in Scandinavian journal of gastroenterology (02.04.2020)
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RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data
Stokowy, Tomasz, Garbulowski, Mateusz, Fiskerstrand, Torunn, Holdhus, Rita, Labun, Kornel, Sztromwasser, Pawel, Gilissen, Christian, Hoischen, Alexander, Houge, Gunnar, Petersen, Kjell, Jonassen, Inge, Steen, Vidar M
Published in Bioinformatics (Oxford, England) (01.10.2016)
Published in Bioinformatics (Oxford, England) (01.10.2016)
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Syndromic X-linked intellectual disability segregating with a missense variant in RLIM
Tønne, Elin, Holdhus, Rita, Stansberg, Christine, Stray-Pedersen, Asbjørg, Petersen, Kjell, Brunner, Han G, Gilissen, Christian, Hoischen, Alexander, Prescott, Trine, Steen, Vidar M, Fiskerstrand, Torunn
Published in European journal of human genetics : EJHG (01.12.2015)
Published in European journal of human genetics : EJHG (01.12.2015)
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Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families
Ngcungcu, Thandiswa, Oti, Martin, Sitek, Jan C., Haukanes, Bjørn I., Linghu, Bolan, Bruccoleri, Robert, Stokowy, Tomasz, Oakeley, Edward J., Yang, Fan, Zhu, Jiang, Sultan, Marc, Schalkwijk, Joost, van Vlijmen-Willems, Ivonne M.J.J., von der Lippe, Charlotte, Brunner, Han G., Ersland, Kari M., Grayson, Wayne, Buechmann-Moller, Stine, Sundnes, Olav, Nirmala, Nanguneri, Morgan, Thomas M., van Bokhoven, Hans, Steen, Vidar M., Hull, Peter R., Szustakowski, Joseph, Staedtler, Frank, Zhou, Huiqing, Fiskerstrand, Torunn, Ramsay, Michele
Published in American journal of human genetics (04.05.2017)
Published in American journal of human genetics (04.05.2017)
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Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
Lacombe, Didier, David, Albert, Jeffs, Aaron, Bohring, Axel, Tchan, Michel, Wilson, Louise C, Pearl, Esther, Cormier-Daire, Valérie, Hing, Anne V, Adès, Lesley C, Stewart, Fiona, Porteous, Mary E, Garcia-Miñaur, Sixto, Robertson, Stephen P, Jenkins, Zandra A, Fukuzawa, Ryuji, Hennekam, Raoul C M, Morgan, Tim, Bindoff, Laurence, Donnai, Dian, Fiskerstrand, Torunn, Mansour, Sahar, Berland, Siren, Thaller, Christina, van Kogelenberg, Margriet
Published in Nature genetics (01.01.2009)
Published in Nature genetics (01.01.2009)
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