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Cecilie Bredrup's picture

Cecilie Bredrup

Associate Professor
  • E-mailCecilie.Bredrup@uib.no
  • Phone+47 55 97 41 71+47 917 16 068
  • Visitor Address
    Haukeland Universitetssykehus Laboratoriebygget, 7. etg. Heis øst
    5009 Bergen
  • Postal Address
    Postboks 7804
    5020 Bergen
Academic article
  • Show author(s) (2021). Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions. Human Molecular Genetics. 72-77.
  • Show author(s) (2021). Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome. American Journal of Medical Genetics. Part A.
  • Show author(s) (2021). Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization. FEBS Letters. 2909-2921.
  • Show author(s) (2021). K+ regulates relocation of Pellino-2 to the site of NLRP3 inflammasome activation in macrophages. FEBS Letters. 1-10.
  • Show author(s) (2021). Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome. American Journal of Medical Genetics. Part A.
  • Show author(s) (2020). Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies. Acta Ophthalmologica. 1-14.
  • Show author(s) (2018). Recurrent, activating variants in the receptor tyrosine kinase DDR2 cause Warburg-Cinotti syndrome. American Journal of Human Genetics. 976-983.
  • Show author(s) (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.
  • Show author(s) (2017). Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. American Journal of Human Genetics. 323-333.
  • Show author(s) (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. 240-246.
  • Show author(s) (2016). Role of decorin core protein in collagen organisation in congenital stromal corneal dystrophy (CSCD). PLOS ONE.
  • Show author(s) (2016). Nedsatt syn hos barn og unge i Norge. Tidsskrift for Den norske legeforening. 996-1000.
  • Show author(s) (2016). Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. Ophthalmic Genetics. 183-193.
  • Show author(s) (2015). IC3D classification of corneal dystrophies-edition 2. Cornea. 117-159.
  • Show author(s) (2015). High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). American Journal of Ophthalmology. 973-979.
  • Show author(s) (2015). Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. Investigative Ophthalmology and Visual Science. 2909-2915.
  • Show author(s) (2014). Ocular pterygium - digital keloid dysplasia. American Journal of Medical Genetics. Part A. 2901-2907.
  • Show author(s) (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases. 10 pages.
  • Show author(s) (2013). Early panretinal photocoagulation for ERG-verified ischaemic central retinal vein occlusion. Acta Ophthalmologica. 37-41.
  • Show author(s) (2011). The IC3D Classification of the Corneal Dystrophies. Klinische Monatsblätter für Augenheilkunde. S1-S39.
  • Show author(s) (2011). Early panretinal photocoagulation for ERGverified ischaemic central retinal vein occlusion. Acta Ophthalmologica.
  • Show author(s) (2011). Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. American Journal of Human Genetics. 634-643.
  • Show author(s) (2010). Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics. 410-417.
  • Show author(s) (2010). Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. Investigative Ophthalmology and Visual Science. 5578-5582.
  • Show author(s) (2008). Ophthalmological aspects of Pierson syndrome. American Journal of Ophthalmology. 602-611.
  • Show author(s) (2008). Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care. 1738-1740.
  • Show author(s) (2007). Photopic 30 Hz flicker electroretinography predicts ocular neovascularization in central vein occlusion. Acta Ophthalmologica Scandinavica. 640-643.
  • Show author(s) (2006). A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. American Journal of Ophthalmology. 520-521.
  • Show author(s) (2005). Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Investigative Ophthalmology and Visual Science. 420-426.
Academic lecture
  • Show author(s) (2019). Retroequatorial fixation sutures in esodeviations: Nordic experiences.
  • Show author(s) (2002). Øyesykdommer hos eldre.
Popular scientific article
  • Show author(s) (2003). Synshemming hos barn og unge i Norge. Assistanse. 6-7.
Letter to the editor
  • Show author(s) (2016). O.H. Haugen og medarbeidere svarer:. Tidsskrift for Den norske legeforening. 1329-1329.
Doctoral dissertation
  • Show author(s) (2009). Clinical and molecular aspects of congenital hereditary eye disease.
Abstract
  • Show author(s) (2010). Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. Neuromuscular Disorders. 680-680.
  • Show author(s) (2008). Visual impairment in children in Norway. Acta Ophthalmologica. 53-53.
  • Show author(s) (2008). Early panretinal photocoagulation for ischemic central retinal vein occlusion. Acta Ophthalmologica. 50-50.
Academic literature review
  • Show author(s) (2008). The IC3D Classification of the Corneal Dystrophies. Cornea. S1-S42.

More information in national current research information system (CRIStin)