Retinal guanylyl cyclase 1

Camuzat A et al. (1995) A gene for Leber's congenital amaurosis maps to chromosome 17p.

Ugur Iseri SA et al. (2010) A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

Udar N et al. (2003) Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.

Downes SM et al. (2001) Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

Payne AM et al. (2001) Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.

Wilkie SE et al. (2000) Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy.

Perrault I et al. (2000) Spectrum of retGC1 mutations in Leber's congenital amaurosis.

Weigell-Weber M et al. (2000) Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy?

Gregory-Evans K et al. (2000) Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.

Duda T et al. (1999) Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis.

Perrault I et al. (1998) A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

Kelsell RE et al. (1998) Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

Kelsell RE et al. (1997) Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.

Yang RB et al. (1996) Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina.

Small KW et al. (1996) Clinical study of a large family with autosomal dominant progressive cone degeneration.

Yang RB et al. (1995) Two membrane forms of guanylyl cyclase found in the eye.

Oliveira L et al. (1994) Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.

Shyjan AW et al. (1992) Molecular cloning of a retina-specific membrane guanylyl cyclase.

Khan AO et al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

Hanein S et al. (2002) Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.

Perrault I et al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

Camuzat A et al. (1996) Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

Azadi S et al. (2010) RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.

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