Cecilie
Bredrup
Post doctor
Visit Address:
Haukeland Universitetssykehus Laboratoriebygget, 7. etg. Heis øst
5021 Bergen
Postal Address:
Postboks 7804
5021 Bergen
Phone:
+47 55 97 41 71
E-mail:
Journal articles
- 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
- 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
- 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
- 2011. Early panretinal photocoagulation for ERGverified ischaemic central retinal vein occlusion. ACTA OPHTHALMOLOGICA. doi: 10.1111/j.1755-3768.2011.02320.x
- 2011. The IC3D Classification of the Corneal Dystrophies. Klinische Monatsblätter für Augenheilkunde. 228: S1-S39. doi: 10.1055/s-0029-1245895
- 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
- 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
- 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
- 2008. Ophthalmological aspects of Pierson syndrome. American Journal of Ophthalmology. 146: 602-611. doi: 10.1016/j.ajo.2008.05.039
- 2008. Visual impairment in children in Norway. ACTA OPHTHALMOLOGICA. 86: 53-53. doi: 10.1111/j.1755-3768.2008.01275.x
- 2008. Early panretinal photocoagulation for ischemic central retinal vein occlusion. ACTA OPHTHALMOLOGICA. 86: 50-50. doi: 10.1111/j.1755-3768.2008.01275.x
- 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
- 2008. The IC3D Classification of the Corneal Dystrophies. Cornea. 27: S1-S42.
- 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
- 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
- 2005. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Investigative Ophthalmology and Visual Science. 46: 420-426.
- 2003. Synshemming hos barn og unge i Norge. Assistanse. 2. 6-7.
Reports and theses
- 2009. Clinical and molecular aspects of congenital hereditary eye disease.
More information in national current research information system (CRIStin)
