- ►nih.gov S Heegaard, T Rosenberg, M Preising, JU … - British Journal of Ophthalmology, 2003 - bjo.bmj.com Results: A novel H82Y (244C→T) mutation and a H90D (286G→C) polymorphism
were detected in exon 2 of the AIPL1 gene. Both the cast and the
histopathological examination showed dilated retinal vessels, mainly ... Cited by 9 - Related articles - BL Direct - All 8 versions
[CITATION] Mutation screening of RetGC1 and RPE65 in patients with LCA and RP
S Heegaard, T Rosenberg, M Preising, JU … - The British Journal of Ophthalmology, 2003 - ukpmc.ac.uk Results: A novel H82Y (244C→T) mutation and a H90D (286G→C) polymorphism
were detected in exon 2 of the AIPL1 gene. Both the cast and the
histopathological examination showed dilated retinal vessels, mainly ... Related articles
TJ Sullivan, JG Heathcote, SM Brazel, MA … - Australian and New Zealand journal of ophthalmology, 1994 - ncbi.nlm.nih.gov PURPOSE: To present the ocular pathology of a three-year-old child with Leber's
congenital amaurosis (LCA) who died from an unrelated episode of presumed viral
meningitis. METHODS: Autopsy was performed, and in addition the globes were ... Cited by 12 - Related articles - BL Direct - All 3 versions
[CITATION] High-resolution two-dimensional gel electrophoresis: Isolelectric focusing and …
JE Celis, G Ratz, B Basse, JB Lauridsen, A … - Cell Biology: A laboratory handbook Cited by 2 - Related articles
J van der Spuy, PM Munro, PJ Luthert, MN … - Mol Vis, 2005 - molvis.org Purpose: An unusual retinal vascular morphology in an enucleated eye from a
patient with Leber congenital amaurosis (LCA) has been associated with a
mutation in AIPL1. The AIPL1 protein is expressed in the pineal gland and ... Cited by 4 - Related articles - Cached - All 7 versions
M Flanders, ML Lapointe, S Brownstein, JM … - Canadian journal of ophthalmology. Journal canadien …, 1984 - ncbi.nlm.nih.gov 1: Can J Ophthalmol. 1984 Dec;19(7):310-4. Keratoconus and Leber's congenital
amaurosis: a clinicopathological correlation. Flanders ... Cited by 20 - Related articles - All 2 versions
H Vorum, M Østergaard, GE Rice, B Honoré, … - Proteome Science, 2007 - biomedcentral.com Address: 1Department of Ophthalmology, Aarhus University Hospital, Nørrebrogade
44, DK-8000 Aarhus C, Denmark, 2Department of Medical Biochemistry, University
of Aarhus, Denmark and 3Translational Proteomics, The Baker Heart Research ... Related articles - View as HTML - All 2 versions
AH Milam, MR Barakat, N Gupta, L Rose, TS … - Ophthalmology, 2003 - Elsevier Clinical and visual function studies were performed between the ages of 6 and 10
years in the LCA eye donor and at age 6 in an affected sibling. Genomic DNA was
screened for mutations in known LCA genes. The retina of the 11 -year-old ... Cited by 18 - Related articles - All 8 versions
H Vorum… - Proteome Science, 2007 - ukpmc.ac.uk To identify the pattern of protein expression in the retina from a patient with
Leber's Congenital Amaurosis (LCA) secondary to a mutation in the AIPL1 gene.
The retina from one eye of a patient with LCA and 7 control eyes were ... Related articles
