Associated Papers
Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.
Wong WM et al.
Clinical & Experimental Ophthalmology, 2025
Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred.
Gao Y et al.
Eye (london, England), 2023
GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance-A Multicenter Case Series and Review of Reported Data.
Neubauer J et al.
Genes, 2022
Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy.
Sun Z et al.
Ophthalmic Genetics, 2020
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
Sharon D et al.
Progress in Retinal and Eye Research, 2018
Long term follow-up of a family with GUCY2D dominant cone dystrophy.
Tsokolas G et al.
International Journal of Ophthalmology, 2018
GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference?
Zobor D et al.
Retina (philadelphia, Pa.), 2014
Genes and mutations in autosomal dominant cone and cone-rod dystrophy.
Kohl S et al.
Advances in Experimental Medicine and Biology, 2012
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
Garcia-Hoyos M et al.
Molecular Vision, 2011
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
Xiao X et al.
Molecular Vision, 2011
Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.
Kitiratschky VB et al.
Investigative Ophthalmology & Visual Science, 2008
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