Retinitis pigmentosa

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

Does hyperbaric oxygen (HBO) delivery rescue retinal photoreceptors in retinitis pigmentosa?

Treatment Outcome / Adolescent / Visual acuity / Humans / Retinitis pigmentosa / Female / Male / Retinal Degeneration / Documenta / Clinical Sciences / Middle Aged / New record / Optometry and Ophthalmology / Adult / Hyperbaric Oxygen / Hyperbaric Oxygenation / Signal to Noise Ratio / Neurosciences / Electroretinogram / Female / Male / Retinal Degeneration / Documenta / Clinical Sciences / Middle Aged / New record / Optometry and Ophthalmology / Adult / Hyperbaric Oxygen / Hyperbaric Oxygenation / Signal to Noise Ratio / Neurosciences / Electroretinogram

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

Increased Expression of Catalase and Superoxide Dismutase 2 Reduces Cone Cell Death in Retinitis Pigmentosa

Technology / Genetic Engineering / Biological Sciences / Molecular / Mice / Retinitis pigmentosa / Animals / Cell Death / Retina / Catalase / Superoxide Dismutase / Genotype / Oxidative Damage / Molecular Targeted Therapy / Enzyme Linked Immunosorbent Assay / Superoxides / Immunoblotting / Retinitis pigmentosa / Animals / Cell Death / Retina / Catalase / Superoxide Dismutase / Genotype / Oxidative Damage / Molecular Targeted Therapy / Enzyme Linked Immunosorbent Assay / Superoxides / Immunoblotting

Does hyperbaric oxygen (HBO) delivery rescue retinal photoreceptors in retinitis pigmentosa?

Treatment Outcome / Adolescent / Visual acuity / Humans / Retinitis pigmentosa / Female / Male / Retinal Degeneration / Documenta / Clinical Sciences / Middle Aged / New record / Optometry and Ophthalmology / Adult / Hyperbaric Oxygen / Hyperbaric Oxygenation / Signal to Noise Ratio / Neurosciences / Female / Male / Retinal Degeneration / Documenta / Clinical Sciences / Middle Aged / New record / Optometry and Ophthalmology / Adult / Hyperbaric Oxygen / Hyperbaric Oxygenation / Signal to Noise Ratio / Neurosciences

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)

Genetics / Transcription / Humans / Mutation / Mice / Retinitis pigmentosa / Animals / Expression / Differential Diagnosis / Transcription Factor / Clinical Sciences / Genotype / Orphan Nuclear Receptors / Syndrome / Nuclear hormone receptor / Retinitis pigmentosa / Animals / Expression / Differential Diagnosis / Transcription Factor / Clinical Sciences / Genotype / Orphan Nuclear Receptors / Syndrome / Nuclear hormone receptor

An Essential Quality Control Mechanism at the Eukaryotic Basal Body Prior to Intraflagellar Transport

Quality Control / Phylogeny / Cell line / Humans / Retinitis pigmentosa / Animals / Flagella / Traffic / Trypanosoma brucei brucei / Tubulin / Biochemistry and cell biology / Dimerization / Animals / Flagella / Traffic / Trypanosoma brucei brucei / Tubulin / Biochemistry and cell biology / Dimerization

Hunter\'s syndrome: A deficiency of L-idurono-sulfate sulfatase

Biophysical Chemistry / Humans / Retinitis pigmentosa / Pancreas / Animals / Skin / Cattle / Glycosaminoglycans / Chondroitin Sulfate / Human Fibroblasts / Hydrolysis / Proteus Vulgaris / Biochemistry and cell biology / Ribonucleases / Skin / Cattle / Glycosaminoglycans / Chondroitin Sulfate / Human Fibroblasts / Hydrolysis / Proteus Vulgaris / Biochemistry and cell biology / Ribonucleases

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