Photoreceptors mutations genes cases retinal dystrophies. Medical search. Frequent questions

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Anatomy27

Photoreceptor Cells Photoreceptor Cells, Vertebrate Photoreceptor Cells, Invertebrate Retinal Cone Photoreceptor Cells Retina Fundus Oculi Pigment Epithelium of Eye Rod Cell Outer Segment Retinal Pigment Epithelium Retinal Photoreceptor Cell Outer Segment Photoreceptor Connecting Cilium Retinal Rod Photoreceptor Cells Eye Muscle, Skeletal Retinal Photoreceptor Cell Inner Segment Cell Line Retinal Bipolar Cells Compound Eye, Arthropod Retinal Horizontal Cells X Chromosome Cells, Cultured Retinal Neurons Retinal Ganglion Cells COS Cells Cornea Optic Lobe, Nonmammalian Pineal Gland

Organisms17

Rats, Mutant Strains Mice, Inbred mdx Mice, Inbred C57BL Mice, Knockout Animals, Genetically Modified Drosophila Horseshoe Crabs Mice, Transgenic Mice, Mutant Strains Zebrafish Drosophila melanogaster Urodela Escherichia coli Thoracica Mollusca Dependovirus Cattle

Diseases44

Retinal Dystrophies Retinal Degeneration Muscular Dystrophies Myotonic Dystrophy Retinitis Pigmentosa Leber Congenital Amaurosis Muscular Dystrophy, Duchenne Corneal Dystrophies, Hereditary Muscular Dystrophy, Animal Retinal Diseases Eye Diseases, Hereditary Fuchs' Endothelial Dystrophy Laurence-Moon Syndrome Blindness Muscular Dystrophy, Facioscapulohumeral Night Blindness Bardet-Biedl Syndrome Microphthalmos Syndrome Usher Syndromes Macular Degeneration Alstrom Syndrome Optic Atrophy, Hereditary, Leber Muscular Dystrophy, Emery-Dreifuss Optic Atrophies, Hereditary Choroid Diseases Kidney Diseases, Cystic Neuroaxonal Dystrophies Optic Disk Drusen Disease Models, Animal Abnormalities, Multiple Vision Disorders Vitelliform Macular Dystrophy Intellectual Disability Muscular Dystrophy, Oculopharyngeal Reflex Sympathetic Dystrophy Radiation Injuries, Experimental Color Vision Defects Retinal Detachment Genetic Diseases, X-Linked Myotonic Disorders Genetic Predisposition to Disease Eye Abnormalities Corneal Dystrophy, Juvenile Epithelial of Meesmann

Chemicals and Drugs61

Eye Proteins cis-trans-Isomerases Rhodopsin Rod Opsins Peripherins Dystrophin Codon, Nonsense Photoreceptors, Plant Opsins Nerve Tissue Proteins Lipofuscin Membrane Proteins Carrier Proteins Retinal Pigments Cyclic Nucleotide Phosphodiesterases, Type 6 Intermediate Filament Proteins Sarcoglycans Photoreceptors, Microbial Arrestin Proteins Transducin Guanylate Cyclase Drosophila Proteins Dystroglycans ATP-Binding Cassette Transporters Cryptochromes Phytochrome Cone Opsins DNA Primers Guanylate Cyclase-Activating Proteins Utrophin RNA, Messenger Recoverin Transcription Factors Retinaldehyde 3',5'-Cyclic-GMP Phosphodiesterases DNA Receptor Protein-Tyrosine Kinases DNA-Binding Proteins G-Protein-Coupled Receptor Kinase 1 Cyclic Nucleotide-Gated Cation Channels Hippocalcin Homeodomain Proteins Flavoproteins Nuclear Proteins Phytochrome A Phytochrome B Codon Mutant Proteins Thymopoietins Green Fluorescent Proteins Calcium Cytoskeletal Proteins Collagen Type VI Muscle Proteins Recombinant Proteins DNA, Complementary Recombinant Fusion Proteins Bacterial Proteins Cyclic GMP Lamin Type A

Analytical, Diagnostic and Therapeutic Techniques and Equipment37

Electroretinography Pedigree DNA Mutational Analysis Visual Acuity Fluorescein Angiography Polymerase Chain Reaction Chromosome Mapping Amino Acid Substitution Genetic Testing Tomography, Optical Coherence Sequence Analysis, DNA Disease Models, Animal Ophthalmoscopy Heteroduplex Analysis Fluorescent Antibody Technique, Indirect Visual Field Tests Radiation Injuries, Experimental Mutagenesis, Site-Directed Immunohistochemistry Heterozygote Detection Blotting, Western Cloning, Molecular Photic Stimulation Reverse Transcriptase Polymerase Chain Reaction Models, Molecular Sequence Alignment Microspectrophotometry Microscopy, Confocal In Situ Nick-End Labeling Models, Biological Transfection In Situ Hybridization Models, Genetic Genetic Complementation Test Microscopy, Electron Microscopy, Fluorescence Cell Count

Psychiatry and Psychology5

Vision, Ocular Visual Acuity Visual Fields Intellectual Disability Color Vision

Phenomena and Processes72

Mutation, Missense Mutation Point Mutation Genes, Recessive Dark Adaptation Consanguinity Light Frameshift Mutation Exons Phenotype Genes, Dominant Vision, Ocular Base Sequence Codon, Nonsense Heterozygote Visual Acuity Amino Acid Sequence Homozygote Germ-Line Mutation Polymorphism, Single-Stranded Conformational Light Signal Transduction Amino Acid Substitution Genotype Genetic Linkage Exome Visual Fields Mutation Rate Alleles Adaptation, Ocular Darkness Lod Score Mutagenesis Sequence Homology, Amino Acid Protein Structure, Tertiary Sequence Deletion Haplotypes Signal Transduction Gene Deletion Protein Binding Polymorphism, Single Nucleotide Binding Sites Fluorescence Gene Expression Mosaicism Gene Expression Regulation Gene Expression Regulation, Developmental X Chromosome Founder Effect Suppression, Genetic Codon Transfection Kinetics Cell Differentiation Time Factors Promoter Regions, Genetic Protein Transport Transgenes Trinucleotide Repeat Expansion Transcription, Genetic Phototropism Introns Circadian Rhythm Genetic Predisposition to Disease Plasmids Ocular Physiological Phenomena Apoptosis Polymorphism, Genetic Cell Count Cell Survival Membrane Potentials Color Vision Genes, Insect

Disciplines and Occupations1

Immunohistochemistry

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Health Care4

Genetic Testing Age of Onset Radiation Injuries, Experimental Family Health

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Information Science Health Care

Retinal Dystrophies Photoreceptor Cells Photoreceptor Cells, Vertebrate Retinal Degeneration Muscular Dystrophies Myotonic Dystrophy Photoreceptor Cells, Invertebrate Retinitis Pigmentosa Leber Congenital Amaurosis Electroretinography Retinal Cone Photoreceptor Cells Eye Proteins Muscular Dystrophy, Duchenne Mutation, Missense Mutation Retina Point Mutation cis-trans-Isomerases Corneal Dystrophies, Hereditary Pedigree Fundus Oculi Muscular Dystrophy, Animal Rhodopsin Retinal Diseases Genes, Recessive Dark Adaptation Rod Opsins Consanguinity Peripherins Light Frameshift Mutation DNA Mutational Analysis Eye Diseases, Hereditary Pigment Epithelium of Eye Fuchs' Endothelial Dystrophy Laurence-Moon Syndrome Rod Cell Outer Segment Blindness Retinal Pigment Epithelium Exons Molecular Sequence Data Phenotype Dystrophin Genes, Dominant Muscular Dystrophy, Facioscapulohumeral Vision, Ocular Night Blindness Retinal Photoreceptor Cell Outer Segment Base Sequence Codon, Nonsense Bardet-Biedl Syndrome Microphthalmos Heterozygote Rats, Mutant Strains Visual Acuity Photoreceptor Connecting Cilium Syndrome Amino Acid Sequence Homozygote Germ-Line Mutation Polymorphism, Single-Stranded Conformational Usher Syndromes Light Signal Transduction Fluorescein Angiography Photoreceptors, Plant Macular Degeneration Polymerase Chain Reaction Alstrom Syndrome Optic Atrophy, Hereditary, Leber Opsins Nerve Tissue Proteins Chromosome Mapping Lipofuscin Amino Acid Substitution Genotype Muscular Dystrophy, Emery-Dreifuss Optic Atrophies, Hereditary Genetic Linkage Membrane Proteins Mice, Inbred mdx Retinal Rod Photoreceptor Cells Genetic Testing Tomography, Optical Coherence Carrier Proteins Exome Choroid Diseases Retinal Pigments Kidney Diseases, Cystic Neuroaxonal Dystrophies Visual Fields Sequence Analysis, DNA Cyclic Nucleotide Phosphodiesterases, Type 6 Age of Onset Optic Disk Drusen Intermediate Filament Proteins Disease Models, Animal Sarcoglycans Ophthalmoscopy Photoreceptors, Microbial Heteroduplex Analysis

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