Associated Papers
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.
Sao Su S et al.
Ophthalmic Genetics, 2025
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C et al.
American Journal of Ophthalmology, 2023
Whole exome sequencing of known eye genes reveals genetic causes for high myopia.
Haarman AEG et al.
Human Molecular Genetics, 2022
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
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.
Oh JK et al.
American Journal of Ophthalmology, 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
The dimerization domain in outer segment guanylate cyclase is a Ca²⁺-sensitive control switch module.
Zägel P et al.
Biochemistry, 2013
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
Xiao X et al.
Molecular Vision, 2011
Guanylate cyclases and associated activator proteins in retinal disease.
Hunt DM et al.
Molecular and Cellular Biochemistry, 2010
Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion.
Karan S et al.
Molecular and Cellular Biochemistry, 2010
GCAP1 mutations associated with autosomal dominant cone dystrophy.
Jiang L et al.
Advances in Experimental Medicine and Biology, 2010
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).
Sokal I et al.
Investigative Ophthalmology & Visual Science, 2005
Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.
Ito S et al.
Investigative Ophthalmology & Visual Science, 2004
Factors that affect regulation of cGMP synthesis in vertebrate photoreceptors and their genetic link to human retinal degeneration.
Olshevskaya EV et al.
Molecular and Cellular Biochemistry, 2002
Guanylate cyclase activating proteins, guanylate cyclase and disease.
Newbold RJ et al.
Advances in Experimental Medicine and Biology, 2002
Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.
Bernstein PS et al.
Investigative Ophthalmology & Visual Science, 2001
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.
Payne AM et al.
Journal of Medical Genetics, 2001
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy.
Wilkie SE et al.
Human Molecular Genetics, 2000
Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family.
Van Ghelue M et al.
Ophthalmic Genetics, 2000
Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients.
Ito S et al.
Japanese Journal of Ophthalmology, 0
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.
Michaelides M et al.
Survey of Ophthalmology, 0