Foto:
Jørgen Barth
- E-postcecilie.bredrup@uib.no
- Telefon+47 55 97 41 71
- BesøksadresseHaukeland Universitetssykehus Laboratoriebygget, 7. etg. Heis øst5009 Bergen
- PostadressePostboks 78045020 Bergen
Vitenskapelig artikkel
- (2024). IC3D Classification of Corneal Dystrophies - Edition 3. Cornea. 466-527.
- (2023). Functional characterization of all-trans retinoic acid-induced differentiation factor (ATRAID). FEBS Open Bio.
- (2023). Corneal Vascularization Associated With a Novel PDGFRB Variant. Investigative Ophthalmology and Visual Science.
- (2023). A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia. FEBS Letters. 1290-1299.
- (2021). Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions. Human Molecular Genetics. 72-77.
- (2021). Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome. American Journal of Medical Genetics. Part A.
- (2021). Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization. FEBS Letters. 2909-2921.
- (2021). K+ regulates relocation of Pellino-2 to the site of NLRP3 inflammasome activation in macrophages. FEBS Letters. 1-10.
- (2021). Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome. American Journal of Medical Genetics. Part A.
- (2020). Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies. Acta Ophthalmologica. 1-14.
- (2018). Recurrent, activating variants in the receptor tyrosine kinase DDR2 cause Warburg-Cinotti syndrome. American Journal of Human Genetics. 976-983.
- (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.
- (2017). Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. American Journal of Human Genetics. 323-333.
- (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.
- (2016). Role of decorin core protein in collagen organisation in congenital stromal corneal dystrophy (CSCD). PLOS ONE.
- (2016). Nedsatt syn hos barn og unge i Norge. Tidsskrift for Den norske legeforening. 996-1000.
- (2016). Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. Ophthalmic Genetics. 183-193.
- (2015). IC3D classification of corneal dystrophies-edition 2. Cornea. 117-159.
- (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.
- (2015). Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. Investigative Ophthalmology and Visual Science. 2909-2915.
- (2014). Ocular pterygium - digital keloid dysplasia. American Journal of Medical Genetics. Part A. 2901-2907.
- (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases. 10 sider.
- (2013). Early panretinal photocoagulation for ERG-verified ischaemic central retinal vein occlusion. Acta Ophthalmologica. 37-41.
- (2011). The IC3D Classification of the Corneal Dystrophies. Klinische Monatsblätter für Augenheilkunde. S1-S39.
- (2011). Early panretinal photocoagulation for ERGverified ischaemic central retinal vein occlusion. Acta Ophthalmologica.
- (2011). Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. American Journal of Human Genetics. 634-643.
- (2010). Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics. 410-417.
- (2010). Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. Investigative Ophthalmology and Visual Science. 5578-5582.
- (2008). Ophthalmological aspects of Pierson syndrome. American Journal of Ophthalmology. 602-611.
- (2008). Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care. 1738-1740.
- (2007). Photopic 30 Hz flicker electroretinography predicts ocular neovascularization in central vein occlusion. Acta Ophthalmologica Scandinavica. 640-643.
- (2006). A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. American Journal of Ophthalmology. 520-521.
- (2005). Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Investigative Ophthalmology and Visual Science. 420-426.
Vitenskapelig foredrag
- (2019). Retroequatorial fixation sutures in esodeviations: Nordic experiences.
- (2002). Øyesykdommer hos eldre.
Populærvitenskapelig artikkel
- (2003). Synshemming hos barn og unge i Norge. Assistanse. 6-7.
Brev til redaktøren
- (2016). O.H. Haugen og medarbeidere svarer:. Tidsskrift for Den norske legeforening. 1329-1329.
Doktorgradsavhandling
- (2009). Clinical and molecular aspects of congenital hereditary eye disease.
Sammendrag/abstract
- (2010). Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. Neuromuscular Disorders. 680-680.
- (2008). Visual impairment in children in Norway. Acta Ophthalmologica. 53-53.
- (2008). Early panretinal photocoagulation for ischemic central retinal vein occlusion. Acta Ophthalmologica. 50-50.
Vitenskapelig oversiktsartikkel/review
- (2024). Diagnosis and management in Rubinstein-Taybi syndrome: First international consensus statement. Journal of Medical Genetics.
- (2008). The IC3D Classification of the Corneal Dystrophies. Cornea. S1-S42.