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Cecilie Bredrup's picture

Cecilie Bredrup

Researcher
  • E-mailCecilie.Bredrup@uib.no
  • Phone+47 55 97 41 71
  • Visitor Address
    Haukeland Universitetssykehus Laboratoriebygget, 7. etg. Heis øst
  • Postal Address
    Postboks 7804
    5020 Bergen
Journal articles
  • Bredrup, Cecilie; Stokowy, Tomasz; McGaughran, Julie; Lee, Samuel; Sapkota, Dipak; Cristea, Ileana; Xu, Linda; Tveit, Kåre Steinar; Høvding, Gunnar; Steen, Vidar Martin; Rødahl, Eyvind; Bruland, Ove; Houge, Gunnar. 2018. A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome. European Journal of Human Genetics. doi: 10.1038/s41431-018-0323-z
  • Xu, Linda Zi Yan; Jensen, Hanne; Johnston, Jennifer; Di Maria, Emilio; Kloth, Katja; Cristea-Osuagwu, Ileana; Sapp, Julie; Darling, Thomas; Huryn, Laryssa; Tranebjærg, Lisbeth; Cinotti, Elisa; Kubisch, Christian; Rødahl, Eyvind; Bruland, Ove; Biesecker, Leslie; Houge, Gunnar; Bredrup, Cecilie. 2018. Recurrent, activating variants in the receptor tyrosine kinase DDR2 cause Warburg-Cinotti syndrome. American Journal of Human Genetics. 103: 976-983. doi: 10.1016/j.ajhg.2018.10.013
  • Macia, Maxence S.; Halbritter, Jan; Delous, Marion; Bredrup, Cecilie; Gutter, Arthur; Filhol, Emilie; Christensen, Anne Elisabeth; Leh, Sabine Maria; Bizet, Albane; Braun, Daniela A.; Gee, Heon Y.; Silbermann, Flora; Henry, Charline; Krug, Pauline; Bole-Feysot, Christine; Nitschké, Patrick; Joly, Dominique; Nicoud, Philippe; Paget, André; Haugland, Heidi; Brackman, Damien; Ahmet, Nayir; Sandford, Richard; Cengiz, Nurcan; Knappskog, Per; Boman, Helge; Linghu, Bolan; Yang, Fan; Oakeley, Edward J.; Saint Mézard, Pierre; Sailer, Andreas W.; Johansson, Stefan; Rødahl, Eyvind; Saunier, Sophie; Hildebrandt, Friedhelm; Benmerah, Alexandre. 2017. Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. American Journal of Human Genetics. 100: 323-333. doi: 10.1016/j.ajhg.2016.12.011
  • Aukrust, Ingvild; Jansson, Ragnhild Wivestad; Bredrup, Cecilie; Rusaas, Hilde E.; Berland, Siren; Jørgensen, Agnete; Haug, Marte Gjøl; Rødahl, Eyvind; Houge, Gunnar; Knappskog, Per. 2016. The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. Acta Ophthalmologica. 95: 240-246. doi: 10.1111/aos.13273
  • Haugen, Olav H.; Bredrup, Cecilie; Rødahl, Eyvind. 2016. O.H. Haugen og medarbeidere svarer:. Tidsskrift for Den norske legeforening. 136: 1329-1329. doi: 10.4045/tidsskr.16.0698
  • Haugen, Olav H.; Bredrup, Cecilie; Rødahl, Eyvind. 2016. Nedsatt syn hos barn og unge i Norge. Tidsskrift for Den norske legeforening. 136: 996-1000. doi: 10.4045/tidsskr.15.1243
  • Jansson, Ragnhild Wivestad; Berland, Siren; Bredrup, Cecilie; Austeng, Dordi; Andreasson, Sten; Wittström, Elisabeth. 2016. Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. Ophthalmic Genetics. 37: 183-193. doi: 10.3109/13816810.2015.1020558
  • Kamma-Lorger, Christina S.; Pinali, Christian; Martínez, Juan Carlos; Harris, John; Young, Robert D.; Bredrup, Cecilie; Crosas, Eva; Malfois, Marc; Rødahl, Eyvind; Meek, Keith M.; Knupp, Carlo. 2016. Role of decorin core protein in collagen organisation in congenital stromal corneal dystrophy (CSCD). PLoS ONE. 11. doi: 10.1371/journal.pone.0147948
  • Bredrup, Cecilie; Johansson, Stefan; Bindoff, Laurence; Sztromwasser, Pawel Szymon; Kråkenes, Jostein; Christensen, Anne Elisabeth; Brurås, Kari Røine; Lind, Ola; Boman, Helge; Knappskog, Per; Rødahl, Eyvind. 2015. High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). American Journal of Ophthalmology. 159: 973-979. doi: 10.1016/j.ajo.2015.01.021
  • Christensen, Anne Elisabeth; Bruland, Ove; Vedeler, Anni; Saraste, Jaakko; Schönheit, Jürgen; Bredrup, Cecilie; Knappskog, Per; Rødahl, Eyvind. 2015. Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. Investigative Ophthalmology and Visual Science. 56: 2909-2915. doi: 10.1167/iovs.14-16014
  • Weiss, Jayne S.; Møller, Hans Ulrik; Aldave, Anthony J.; Seitz, Berthold; Bredrup, Cecilie; Kivelä, Tero; Munier, Francis L.; Rapuano, Christopher J.; Nischal, Kanwal K.; Kim, Eung Kweon; Sutphin, John; Busin, Massimo; Labbé, Antoine; Kenyon, Kenneth R.; Kinoshita, Shigeru; Lisch, Walter. 2015. IC3D classification of corneal dystrophies-edition 2. Cornea. 34: 117-159. doi: 10.1097/ICO.0000000000000307
  • Abarca, Hugo; Christensen, Anne Elisabeth; Trubnykova, Milana; Haugen, Olav H.; Høvding, Gunnar Jr; Tveit, Kåre Steinar; Houge, Gunnar; Bredrup, Cecilie; Hennekam, Raoul C. 2014. Ocular pterygium - digital keloid dysplasia. American Journal of Medical Genetics. Part A. 164: 2901-2907. doi: 10.1002/ajmg.a.36713
  • Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche F; Boman, Helge; Knappskog, Per; Bindoff, Laurence. 2013. MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases. 8. 10 pages. doi: 10.1186/1750-1172-8-1
  • Kjeka, Ole; Jansson, Ragnhild Wivestad; Bredrup, Cecilie; Krohn, Jørgen Gitlesen. 2013. Early panretinal photocoagulation for ERG-verified ischaemic central retinal vein occlusion. Acta Ophthalmologica. 91: 37-41. doi: 10.1111/j.1755-3768.2011.02320.x
  • 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
  • Kjeka, Ole; Jansson, Ragnhild Wivestad; Bredrup, Cecilie; Krohn, Jørgen Gitlesen. 2011. Early panretinal photocoagulation for ERGverified ischaemic central retinal vein occlusion. Acta Ophthalmologica. doi: 10.1111/j.1755-3768.2011.02320.x
  • Weiss, Jayne S.; Møller, Hans Ulrik; Lisch, Walter; Kinoshita, Shigeru; Aldave, Anthony J.; Belin, Michael W.; Kivela, Tero; Busin, Massimo; Munier, Francis L.; Seitz, Berthold; Sutphin, John; Bredrup, Cecilie; Mannis, Mark J.; Rapuano, Christopher J.; Van Rij, Gabriel; Kim, Eung Kweon; Klintworth, Gordon K. 2011. The IC3D Classification of the Corneal Dystrophies. Klinische Monatsblätter für Augenheilkunde. 228: S1-S39. doi: 10.1055/s-0029-1245895
  • Bindoff, Laurence; Fiskerstrand, Torunn; H'mida-Ben Brahim, D; Johansson, S; M'Zahem, A; Haukanes, BI; Drouot, N; Zimmermann, J; Cole, AJ; Vedeler, Christian A.; Bredrup, Cecilie; Assoum, M; Tazir, Meriem; Klockgether, T; Hamri, Abdelmadjid; Steen, Vidar Martin; Boman, Helge; Koenig, Michel; Knappskog, Per Morten. 2010. Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. Neuromuscular Disorders. 20: 680-680. doi: 10.1016/j.nmd.2010.07.266
  • Bredrup, Cecilie; Stang, Espen; Bruland, Ove; Palka, Barbara P; Young, Robert D; Haavik, Jan; Knappskog, Per Morten; Rødahl, Eyvind. 2010. Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. Investigative Ophthalmology and Visual Science. 51: 5578-5582. doi: 10.1167/iovs.09-4933
  • 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
  • Bredrup, Cecilie; Matejas, Verena; Barrow, Margaret; Bláhová, Květa; Bockenhauer, Detlef; Fowler, Darren J.; Gregson, Richard M.; Maruniak-Chudek, Iwona; Medeira, Ana; Mendonça, Erica Laima; Kagan, Mikhail; Koenig, Jens; Krastel, Hermann; Kroes, Hester Y.; Saggar, Anand; Sawyer, Taylor; Schittkowski, Michael; Świetlińsk, Janusz; Thompson, Dorothy; VanDeVoorde, Rene G.; Wittebol-Post, Dienke; Woodruff, Geoffrey; Zurowska, Aleksandra; Hennekam, Raoul C.; Zenker, Martin; Russell-Eggitt, Isabelle. 2008. Ophthalmological aspects of Pierson syndrome. American Journal of Ophthalmology. 146: 602-611. doi: 10.1016/j.ajo.2008.05.039
  • Bredrup, Cecilie; Riise, Rolf Bjarne; Rødahl, Eyvind; Haugen, Olav H. 2008. Visual impairment in children in Norway. Acta Ophthalmologica. 86: 53-53. doi: 10.1111/j.1755-3768.2008.01275.x
  • Kjeka, Ole; Bredrup, Cecilie; Jansson, Ragnhild Wivelstad; Krohn, Jørgen Gitlesen. 2008. Early panretinal photocoagulation for ischemic central retinal vein occlusion. Acta Ophthalmologica. 86: 50-50. doi: 10.1111/j.1755-3768.2008.01275.x
  • Vesterhus, Mette; Ræder, Helge; Aurlien, Harald; Gjesdal, Clara Gram; Bredrup, Cecilie; Holm, Pål Ivar; Molven, Anders; Bindoff, Laurence; Berstad, Arnold; Njølstad, Pål Rasmus. 2008. Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care. 31: 1738-1740. doi: 10.2337/dc07-2217
  • Weiss, Jayne S.; Møller, Hans Ulrik; Lisch, Walter; Kinoshita, Shigeru; Aldave, Anthony J.; Belin, Michael W.; Kivela, Tero; Busin, Massimo; Munier, Francis L.; Seitz, Berthold; Sutphin, John; Bredrup, Cecilie; Mannis, Mark J.; Rapuano, Christopher J.; Van Rij, Gabriel; Kim, Eung Kweon; Klintworth, Gordon K. 2008. The IC3D Classification of the Corneal Dystrophies. Cornea. 27: S1-S42.
  • Kjeka, Ole; Bredrup, Cecilie; Krohn, Jørgen Gitlesen. 2007. Photopic 30 Hz flicker electroretinography predicts ocular neovascularization in central vein occlusion. Acta Ophthalmologica Scandinavica. 85: 640-643. doi: 10.1111/j.1600-0420.2007.00920.x
  • Rødahl, Eyvind; Van Ginderdeuren, Rita; Knappskog, Per; Bredrup, Cecilie; Boman, Helge. 2006. A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. American Journal of Ophthalmology. 142: 520-521. doi: 10.1016/j.ajo.2006.03.064
  • Bredrup, Cecilie; Knappskog, Per; Majewski, Jacek; Rødahl, Eyvind; Boman, Helge. 2005. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Investigative Ophthalmology and Visual Science. 46: 420-426.
  • Bredrup, Cecilie. 2003. Synshemming hos barn og unge i Norge. Assistanse. 2. 6-7.
Reports and theses
  • Bredrup, Cecilie. 2009. Clinical and molecular aspects of congenital hereditary eye disease.

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