Citation Impact
Citing Papers
A missense mutation in GUCY2D acts as a genetic modifier in RPE65 -related Leber Congenital Amaurosis
2004
Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice
2005
The Retinal Pigment Epithelium in Visual Function
2005 Standout
Vision in Leber Congenital Amaurosis
1996
Classical and new roles of β-arrestins in the regulation of G-PROTEIN-COUPLED receptors
2001 StandoutNobel
An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis
2003
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina
2002
Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis
2004
Leber Congenital Amaurosis
1999
Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene
2001
Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36
2003
Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis
2004
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
2000
Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis
1996
Retinitis pigmentosa
2006 Standout
The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations
2004
Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
1989
Leber congenital amaurosis: Genes, proteins and disease mechanisms
2008 Standout
Spectrum of retGC1 mutations in Leber's congenital amaurosis
2000
Retinopathy and attenuated circadian entrainment in Crx-deficient mice
1999
Hyperopia in Complicated Leber's Congenital Amaurosis
1990
ERG and VEP follow-up study in children with Leber's congenital amaurosis
1999
The epidemiology of retinitis pigmentosa in Denmark
2002
Retinopathy induced in mice by targeted disruption of the rhodopsin gene
1997 StandoutNobel
Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease
2000
EVALUATION OF GENOTYPE–PHENOTYPE ASSOCIATIONS IN LEBER CONGENITAL AMAUROSIS
2005
Retinitis Pigmentosa
1999
The ocular pathology in Leber's congenital amaurosis
1994
Gene therapy restores vision in a canine model of childhood blindness
2001 Standout
Retinitis pigmentosa
1988
Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray
2007
Guanylyl Cyclases and Signaling by Cyclic GMP
2000 Standout
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis
2003
Congenital Stationary Night Blindness Presenting as Leber's Congenital Amaurosis
1987
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness
2000
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).
2001
Genes and mutations causing retinitis pigmentosa
2013 Standout
Works of Scott Foxman being referenced
Retinal dystrophy and macular coloboma
1988
Classification of Congenital and Early Onset Retinitis Pigmentosa
1985