Torunn Fiskerstrand's picture
Torunn
Fiskerstrand
Associate professor II
Visit Address: 
Haukeland universitetssykehus, Laboratoriebygget
5021 Bergen
Postal Address: 
Postboks 7804
5021 Bergen
E-mail: 
Torunn.Fiskerstrand@med.uib.no
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Journal articles
  • Breivik, Noralv; Fiskerstrand, Torunn; Sand, Trond; Vogt, Christina. 2013. Tre søsken med økende pustevansker som spedbarn. Tidsskrift for Den norske legeforening. 133: 1459-1463. doi: 10.4045/tidsskr.12.0844
  • Fiskerstrand, Torunn; Arshad, Najla; Haukanes, Bjørn Ivar; Tronstad, Rune Rose; Pham, Khanh Cong Do; Johansson, Stefan; Håvik, Bjarte; Tønder, Siv Lisbeth; Levy, Shawn E.; Brackman, Damien; Boman, Helge; Biswas, Kabir Hassan; Apold, Jaran; Hovdenak, Nils; Visweswariah, Sandhya S.; Knappskog, Per. 2012. Familial diarrhea syndrome caused by an activating GUCY2C mutation. New England Journal of Medicine. 366: 1586-1595. doi: 10.1056/NEJMoa1110132
  • Sorte, Hanne Sørmo; Mørkrid, Lars; Rødningen, Olaug Kristin; Kulseth, Mari Ann; Stray-Pedersen, Asbjørg; Matthijs, Gert; Race, Valerie; Houge, Gunnar; Fiskerstrand, Torunn; Bjurulf, Bjørn; Lyle, Robert; Prescon, Trine. 2012. Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. European Journal of Medical Genetics. 55: 196-202. doi: 10.1016/j.ejmg.2012.01.003
  • Bredrup, Cecilie; Saunier, Sophie; Oud, Machteld M.; Fiskerstrand, Torunn; Hoischen, Alexander; Brackman, Damien; Leh, Sabine; Midtbø, Marit; Filhol, Emilie; Bole-Feysot, Christine; Nitschke, 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, Cécilie; Boman, Helge; Veltman, Joris A.; Rødahl, Eyvind; Knappskog, Per; Knoers, Nine V.A.M.; Roepman, Ronald; Arts, Heleen .H. 2011. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. American Journal of Human Genetics. 89: 634-643. doi: 10.1016/j.ajhg.2011.10.001
  • Brodwall, Kristoffer Myrstad; Juliusson, Petur Benedikt; Bjerknes, Robert; Hovland, Randi; Fiskerstrand, Torunn. 2011. Trikorhinofalangealt syndrom - klinisk presentasjon og genetikk. Tidsskrift for Den norske legeforening. 131: 1420-1423. doi: 10.4045/tidsskr.09.0551
  • Christiansen, Rolf E.F.; Fiskerstrand, Torunn; Leh, Sabine; Haukanes, Bjørn Ivar; Singh, AK; Fervenza, FC; Svarstad, Einar. 2011. A Mother and Daughter with Unexplained Renal Failure. Nephron. Clinical practice. 119: C1-C9. doi: 10.1159/000327428
  • Holman, Sarah K.; Daniel, Phil; Jenkins, Zandra A.; Herron, Rachel L.; Morgan, Tim; Savarirayan, Ravi; Chow, Chung Wo; Bohring, Axel; Mosel, Annette; Lacombe, Didier; Steiner, Bernhard; Schmitt-Mechelke, Thomas; Schroter, Barbara; Raas-Rothschild, Annick; Miñaur, Sixto Garcia; Porteous, Mary E.; Parker, Michael; Quarrell, Oliver; Tapon, Dagmar; Cormier-Daire, Valérie; Mansour, Sahar; Nash, Ruth; Bindoff, Laurence; Fiskerstrand, Torunn; Robertson, Stephen P. 2011. The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics. Part A. 155A: 2397-2408. doi: 10.1002/ajmg.a.34178
  • Laine, Christine M.; Chung, Boidin D.; Susic, Miki; Prescon, Trine; Semler, Oliver; Fiskerstrand, Torunn; D'Eufemia, Patrizia; Castori, Marrco; Pekkinen, Minna; Sochett, Etienne; Cole, William G.; Netzer, Christian; Makitie, Outi. 2011. Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG). European Journal of Human Genetics. 19: 875-881. doi: 10.1038/ejhg.2011.42
  • Christensen, Anne Elisabeth; Knappskog, Per Morten; Boman, Helge; Rødahl, Eyvind; Fiskerstrand, Torunn. 2010. A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. Investigative Ophthalmology and Visual Science. 51: 6369-6373. doi: 10.1167/iovs.10-5597
  • Fiskerstrand, Torunn; Brahim, Dorra H'mida-Ben; Johansson, Stefan; M'Zahem, A; Drouot, Nathalie; Zimmermann, Julian; Cole, Andrew J; Vedeler, Christian A.; Bredrup, Cecilie; Assoum, Mirna; Tazir, Meriem; Klockgether, Thomas; Hamri, Abdelmadjid; Steen, Vidar Martin; Boman, Helge; Bindoff, Laurence; Koenig, Michel; Knappskog, Per Morten; Haukanes, Bjørn Ivar. 2010. Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics. 87: 410-417. doi: 10.1016/j.ajhg.2010.08.002
  • Fiskerstrand, Torunn; Houge, Gunnar; Sund, Ståle; Scheie, David; Leh, Sabine; Boman, Helge; Knappskog, Per Morten. 2010. Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. Journal of Molecular Diagnostics. 12: 125-131. doi: 10.2353/jmoldx.2010.090033
  • Fiskerstrand, Torunn; Knappskog, Per; Majewski, Jacek; Wanders, Ronald J.A.; Boman, Helge; Bindoff, Laurence. 2009. A novel Refsum-like disorder that maps to chromosome 20. Neurology. 72: 20-27. doi: 10.1212/01.wnl.0000333664.90605.23
  • Riedel, Bettina; Fiskerstrand, Torunn; Refsum, Helga; Ueland, Per Magne. 1999. Co-ordinate variations in methylmalonyl-CoA mutase and methionine synthase. and the cobalamin cofactors in human glioma cellse during nitrous oxide exposure and the subsequent recovery phase. Biochemical Journal. 341: 133-138.
Book sections
  • Rødahl, Eyvind; Christensen, Anne Elisabeth; Fiskerstrand, Torunn; Knappskog, Per; Boman, Helge. 2012. ADAMTSL4-Related Eye Disorders Includes: Autosomal Recessive Isolated Ectopia Lentis, Ectopia Lentis et Pupillae. -. In:
    • Pagon, RA; Bird, TD; Dolan, CR. 2012. GeneReviews™ [Internet]. University of Washington, Seattle.

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