Synshemning hos barn og unge under 20 år i Norge
- Prosjektnummer
- 911216
- Ansvarlig person
- Eyvind Rødahl
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Forskningsprosjekt
- Helsekategori
- Eye
- Forskningsaktivitet
- 2. Aetiology
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Am J Hum Genet 2011 Nov;89(5):634-43. Epub 2011 okt 20
PMID: 22019273
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
Invest Ophthalmol Vis Sci 2010 Dec;51(12):6369-73. Epub 2010 aug 11
PMID: 20702823
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy.
Invest Ophthalmol Vis Sci 2010 Nov;51(11):5578-82. Epub 2010 mai 19
PMID: 20484579
Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.
Invest Ophthalmol Vis Sci 2010 Jan;51(1):47-52. Epub 2009 aug 6
PMID: 19661234
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Am J Hum Genet 2010 Sep;87(3):410-7.
PMID: 20797687
Clinical manifestation of a novel PAX6 mutation Arg128Pro.
Arch Ophthalmol 2008 Mar;126(3):428-30.
PMID: 18332330
Ophthalmological aspects of Pierson syndrome.
Am J Ophthalmol 2008 Oct;146(4):602-611. Epub 2008 jul 31
PMID: 18672223
Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations.
Diabetes Care 2008 Sep;31(9):1738-40. Epub 2008 jun 10
PMID: 18544793
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.
Am J Ophthalmol 2006 Sep;142(3):520-1.
PMID: 16935612
The IC3D Classification of the Corneal Dystrophies.
Cornea. 2008;27(10):S1-42
Congenital Stromal Corneal Dystrophy
GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2008. Available at http://www.genetests.org.
Clinical and molecular aspects of congenital hereditary eye disease
- Disputert:
- september 2009
- Hovedveileder:
- Eyvind Rødahl
eRapport er utarbeidet av Sølvi Lerfald og Reidar Thorstensen, Regionalt kompetansesenter for klinisk forskning, Helse Vest RHF, og videreutvikles av de fire RHF-ene i fellesskap, med støtte fra Helse Vest IKT
Alle henvendelser rettes til Faglig rapportering, Helse Vest