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

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Anatomy18

Fundus Oculi Photoreceptor Cells, Vertebrate Retina Pigment Epithelium of Eye Photoreceptor Cells Retinal Pigment Epithelium Retinal Rod Photoreceptor Cells Retinal Cone Photoreceptor Cells Cell Line Muscle, Skeletal Rod Cell Outer Segment Cells, Cultured Brain X Chromosome Cell Line, Tumor Mitochondria Myoblasts Muscles

Organisms9

Mice, Inbred mdx Rats, Mutant Strains Mice, Inbred C57BL Mice, Knockout Mice, Transgenic Mice, Mutant Strains Zebrafish Escherichia coli Caenorhabditis elegans

Diseases47

Retinal Dystrophies Muscular Dystrophies Retinal Degeneration Myotonic Dystrophy Leber Congenital Amaurosis Muscular Dystrophy, Duchenne Retinitis Pigmentosa Corneal Dystrophies, Hereditary Muscular Dystrophy, Animal Fuchs' Endothelial Dystrophy Retinal Diseases Laurence-Moon Syndrome Eye Diseases, Hereditary Blindness Muscular Dystrophy, Facioscapulohumeral Syndrome Microphthalmos Bardet-Biedl Syndrome Night Blindness Alstrom Syndrome Muscular Dystrophy, Emery-Dreifuss Optic Atrophy, Hereditary, Leber Usher Syndromes Optic Atrophies, Hereditary Disease Models, Animal Macular Degeneration Genetic Predisposition to Disease Neuroaxonal Dystrophies Choroid Diseases Kidney Diseases, Cystic Optic Disk Drusen Abnormalities, Multiple Fructose-1,6-Diphosphatase Deficiency Intellectual Disability Muscular Dystrophy, Oculopharyngeal Reflex Sympathetic Dystrophy Vitelliform Macular Dystrophy Vision Disorders Deafness Cell Transformation, Neoplastic Neoplasms Myotonic Disorders Corneal Dystrophy, Juvenile Epithelial of Meesmann Disease Progression Parkinson Disease Genetic Diseases, X-Linked Muscular Diseases

Chemicals and Drugs41

cis-trans-Isomerases Eye Proteins Codon, Nonsense Peripherins Dystrophin Membrane Proteins Carrier Proteins Nerve Tissue Proteins Sarcoglycans Lipofuscin Rhodopsin DNA Primers Proteins Dystroglycans Intermediate Filament Proteins Mutant Proteins DNA ATP-Binding Cassette Transporters Utrophin Rod Opsins Proto-Oncogene Proteins B-raf Nuclear Proteins Genetic Markers Transcription Factors DNA-Binding Proteins Guanylate Cyclase RNA, Messenger Factor V Receptor Protein-Tyrosine Kinases DNA, Neoplasm Codon Thymopoietins Neoplasm Proteins Collagen Type VI Tumor Suppressor Protein p53 Muscle Proteins Prothrombin Lamin Type A Cytoskeletal Proteins Collagen Type VIII Tumor Suppressor Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Pedigree Electroretinography DNA Mutational Analysis Genetic Testing Polymerase Chain Reaction Amino Acid Substitution Sequence Analysis, DNA Chromosome Mapping Visual Acuity Fluorescein Angiography Disease Models, Animal Heteroduplex Analysis Tomography, Optical Coherence Visual Field Tests Ophthalmoscopy Mutagenesis, Site-Directed Heterozygote Detection Models, Genetic Models, Biological Transfection Immunohistochemistry Reverse Transcriptase Polymerase Chain Reaction Models, Molecular Blotting, Western Genetic Therapy Cloning, Molecular Case-Control Studies Genetic Complementation Test Sequence Alignment

Psychiatry and Psychology4

Visual Acuity Visual Fields Intellectual Disability Vision, Ocular

Phenomena and Processes65

Mutation Mutation, Missense Point Mutation Genes, Recessive Consanguinity Frameshift Mutation Phenotype Exons Heterozygote Codon, Nonsense Base Sequence Homozygote Polymorphism, Single-Stranded Conformational Genotype Genes, Dominant Amino Acid Substitution Germ-Line Mutation Genetic Linkage Amino Acid Sequence Dark Adaptation Visual Acuity Alleles Exome Genetic Predisposition to Disease Mutation Rate Visual Fields Haplotypes Lod Score Polymorphism, Single Nucleotide Protein Structure, Tertiary Genes, p53 Signal Transduction Gene Deletion Mutagenesis Genetic Markers Genetic Variation Sequence Deletion Polymorphism, Genetic Transfection Protein Binding Epigenesis, Genetic DNA Methylation Promoter Regions, Genetic Gene Expression Regulation Gene Frequency Founder Effect Transcription, Genetic Sequence Homology, Amino Acid Gene Expression Vision, Ocular Codon Suppression, Genetic Binding Sites Light X Chromosome Time Factors Fluorescence Drug Resistance Trinucleotide Repeat Expansion Gene Expression Regulation, Neoplastic Introns Microsatellite Repeats Gene Expression Regulation, Developmental Gene Silencing Plasmids

Disciplines and Occupations2

Genetic Counseling Immunohistochemistry

Information Science3

Base Sequence Molecular Sequence Data Amino Acid Sequence

Named Groups2

Asian Continental Ancestry Group Infant, Newborn

Health Care5

Genetic Testing Age of Onset Family Health Genetic Counseling Case-Control Studies

Geographicals1

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

Retinal Dystrophies Muscular Dystrophies Retinal Degeneration Mutation Myotonic Dystrophy Leber Congenital Amaurosis Mutation, Missense Point Mutation Muscular Dystrophy, Duchenne Retinitis Pigmentosa Pedigree Corneal Dystrophies, Hereditary Electroretinography cis-trans-Isomerases Eye Proteins DNA Mutational Analysis Muscular Dystrophy, Animal Fundus Oculi Genes, Recessive Consanguinity Frameshift Mutation Phenotype Fuchs' Endothelial Dystrophy Retinal Diseases Exons Laurence-Moon Syndrome Heterozygote Eye Diseases, Hereditary Codon, Nonsense Photoreceptor Cells, Vertebrate Retina Peripherins Base Sequence Molecular Sequence Data Blindness Genetic Testing Homozygote Dystrophin Muscular Dystrophy, Facioscapulohumeral Polymorphism, Single-Stranded Conformational Genotype Syndrome Genes, Dominant Polymerase Chain Reaction Microphthalmos Bardet-Biedl Syndrome Pigment Epithelium of Eye Night Blindness Amino Acid Substitution Sequence Analysis, DNA Photoreceptor Cells Germ-Line Mutation Genetic Linkage Chromosome Mapping Alstrom Syndrome Amino Acid Sequence Dark Adaptation Visual Acuity Retinal Pigment Epithelium Age of Onset Alleles Muscular Dystrophy, Emery-Dreifuss Optic Atrophy, Hereditary, Leber Usher Syndromes Mice, Inbred mdx Membrane Proteins Retinal Rod Photoreceptor Cells Fluorescein Angiography Optic Atrophies, Hereditary Disease Models, Animal Exome Retinal Cone Photoreceptor Cells Macular Degeneration Carrier Proteins Genetic Predisposition to Disease Nerve Tissue Proteins Neuroaxonal Dystrophies Choroid Diseases Sarcoglycans Kidney Diseases, Cystic Heteroduplex Analysis Optic Disk Drusen Rats, Mutant Strains Mutation Rate Abnormalities, Multiple Lipofuscin Visual Fields Rhodopsin DNA Primers Family Health Tomography, Optical Coherence Fructose-1,6-Diphosphatase Deficiency Haplotypes Proteins Lod Score Dystroglycans Polymorphism, Single Nucleotide Mice, Inbred C57BL Cell Line Intellectual Disability

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