- ►nih.gov MD Mohamed, NC Topping, H Jafri, Y … - British Journal of Ophthalmology, 2003 - bjo.bmj.com Background: Leber's congenital amaurosis (LCA) accounts for 5% of inherited
retinal disease and is usually inherited as an autosomal recessive trait.
Genetic and clinical heterogeneity exist. Mutations have been described in ... Cited by 11 - Related articles - BL Direct - All 11 versions
MD Mohamed, NC Topping, H Jafri, Y … - The British Journal of Ophthalmology, 2003 - ukpmc.ac.uk Background: Leber's congenital amaurosis (LCA) accounts for 5% of inherited
retinal disease and is usually inherited as an autosomal recessive trait.
Genetic and clinical heterogeneity exist. Mutations have been described in ... Related articles
TJ Keen, MD Mohamed, M McKibbin, Y Rashid, … - European Journal of Human Genetics, 2003 - nature.com Leber's congenital amaurosis (LCA) is the most common cause of inherited
childhood blindness and is characterised by severe retinal degeneration at or
shortly after birth. We have identified a new locus, LCA9, on chromosome ... Cited by 22 - Related articles - BL Direct - All 4 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
A Franceschetti, P Dieterle - Confinia neurologica, 1954 - ncbi.nlm.nih.gov 1: Confin Neurol. 1954;14(2-3):184-6. [Diagnostic and prognostic importance
of the electroretinogram in tapetoretinal degeneration ... Cited by 4 - Related articles
VL Ramprasad, N Soumittra, D Nancarrow, P … - Molecular Vision, 2008 - pubmedcentral.nih.gov Leber congenital amaurosis (LCA) is one of the most common causes of hereditary
blindness in infants. To date, mutations in 13 known genes and at two other loci
have been implicated in LCA causation. An examination of the known genes ... Cited by 4 - Related articles - All 6 versions
RL Allikmets, J Zernant, M Kulm, I Perrault, … - Investigative Ophtalmology and Visual Science, 2003 - ARVO Commercial Relationships: RL Allikmets, None; J. Zernant, None; M. Külm, Asper
Biotech E; I. Perrault, None; A. den Hollander, None; S. Dharmaraj, None; R.
Koenekoop, None; J. Kaplan, None; F. Cremers, None; I. Maumenee, None. Cited by 5 - Related articles
RK Özgül, B Bozkurt, H K&inodot… - Eye, 2005 - nature.com Leber's congenital amaurosis (LCA) is an inherited retinal dystrophy, which
causes severe visual impairment in early childhood. Recent molecular genetic
studies have linked 11 loci (AIPL1, CRB1, CRX, GUCY2D, RPE65, RDH12, ... Related articles - BL Direct - All 4 versions
RS Sitorus, B Lorenz, MN Preising - Vision Research, 2003 - Elsevier Conclusions. The four novel disease causing mutations identified in this study
confirmed the diagnosis of LCA which has not been recognized before in
Indonesia. The frequency of RPE65 mutations was 9.5%; and of AIPL1 ... Cited by 8 - Related articles - All 4 versions
F Jabeen, S Jalali, S Sultana, S SA, S Khaliq, … - Pak J Med Res, 2005 - pmrc.org.pk Pak J Med Res Vol. 44, No. 3, 2005 ... Identification of LCA4 Locus in a
Pakistani ... Farhat Jabeen, Samina Jalali, Salma Sultana, SA Shami, Shagufta
Khaliq, Muhammad Ismail, Aiysha Abid, Muhammad Nasir Departments of ... Related articles - View as HTML - All 3 versions
