Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity

Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa.

Gene therapy·2015

Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.

Journal of medical genetics·2005

Histopathology of explanted collar button keratoprostheses: a clinicopathologic correlation.

Cornea·2003

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.

Human mutation·2001

Novel frameshift mutations in CRX associated with Leber congenital amaurosis.

Human mutation·2001

Melanoma-associated retinopathy and recurrent exudative retinal detachments in a patient with choroidal melanoma.

American journal of ophthalmology·2001

S-Opsin Contributes to Violet Light-Dependent Refractive Development and Is Associated With Corneal Structural Remodeling in Mice.

Investigative ophthalmology & visual science·2026

Spontaneous Achromatopsia-Like Phenotype in Albino Swiss CD-1 Mice: Retinocortical Dysfunction, Neurovascular Remodeling, and Glial Activation.

Investigative ophthalmology & visual science·2026

Allelic Architecture and Clinical Spectrum of RP1-Associated Retinal Dystrophies in a Multicenter Korean Cohort.

Investigative ophthalmology & visual science·2026

Age-Related Lens Membrane Composition and N101D Deamidation Modulate αA-Crystallin Membrane Interactions Relevant to Cataract.

Investigative ophthalmology & visual science·2026

Effect of Visual Crowding on Quality of Life in Glaucoma Patients.

Investigative ophthalmology & visual science·2026

Surface-Specific Internal Limiting Membrane Biomechanics in Epiretinal Membrane Severity and Visual Outcomes.

Investigative ophthalmology & visual science·2026

Intrafamilial phenotypic variation in four Palestinian siblings with CFAP418-related ciliopathy: a familial case series.

BMC ophthalmology·2026

Genetic variants in NEF2L2 rs35652124 and GABRB3 rs2081648 genes: association with autism spectrum disorder in Iraqi children.

Neuroscience·2026

Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype-phenotype correlations and clinical implications.

European journal of pediatrics·2026

Estimating the Heritability of Intelligence with a Nuclear Twin Family Design.

Twin research and human genetics : the official journal of the International Society for Twin Studies·2026

Gut microbiota and the gut-brain axis in autism spectrum disorder and attention-deficit/hyperactivity disorder: A scoping review of shared and disorder-specific mechanistic pathways.

AIMS microbiology·2026

Case Report: Neonatal lethality caused by novel compound heterozygous missense variants of SLC6A9 gene.

Frontiers in pediatrics·2026

Related Experiment Videos

Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity

Related Concept Videos

Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa.

Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.

Histopathology of explanted collar button keratoprostheses: a clinicopathologic correlation.

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.

Novel frameshift mutations in CRX associated with Leber congenital amaurosis.

Melanoma-associated retinopathy and recurrent exudative retinal detachments in a patient with choroidal melanoma.

S-Opsin Contributes to Violet Light-Dependent Refractive Development and Is Associated With Corneal Structural Remodeling in Mice.

Spontaneous Achromatopsia-Like Phenotype in Albino Swiss CD-1 Mice: Retinocortical Dysfunction, Neurovascular Remodeling, and Glial Activation.

Allelic Architecture and Clinical Spectrum of RP1-Associated Retinal Dystrophies in a Multicenter Korean Cohort.

Age-Related Lens Membrane Composition and N101D Deamidation Modulate αA-Crystallin Membrane Interactions Relevant to Cataract.

Effect of Visual Crowding on Quality of Life in Glaucoma Patients.

Surface-Specific Internal Limiting Membrane Biomechanics in Epiretinal Membrane Severity and Visual Outcomes.

Intrafamilial phenotypic variation in four Palestinian siblings with CFAP418-related ciliopathy: a familial case series.

Genetic variants in NEF2L2 rs35652124 and GABRB3 rs2081648 genes: association with autism spectrum disorder in Iraqi children.

Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype-phenotype correlations and clinical implications.

Estimating the Heritability of Intelligence with a Nuclear Twin Family Design.

Gut microbiota and the gut-brain axis in autism spectrum disorder and attention-deficit/hyperactivity disorder: A scoping review of shared and disorder-specific mechanistic pathways.

Case Report: Neonatal lethality caused by novel compound heterozygous missense variants of SLC6A9 gene.

Related Experiment Videos

Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity

Related Concept Videos

Related Articles