Associated Papers
Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.
Sao Su S et al.
Ophthalmic Genetics, 2025
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM2_ESM.xlsx › Feuil_1
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
Sharon D et al.
Progress in Retinal and Eye Research, 2018
Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1.
Zulliger R et al.
The Journal of Biological Chemistry, 2015
A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.
Hughes AE et al.
Investigative Ophthalmology & Visual Science, 2012
Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion.
Karan S et al.
Molecular and Cellular Biochemistry, 2010
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P et al.
Molecular Vision, 2009
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Vallespin E et al.
Investigative Ophthalmology & Visual Science, 2007
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S et al.
Human Mutation, 2004
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