Autosomal dominant genetic genes cases retinal dystrophies. Medical search. Frequent questions

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Anatomy25

Fundus Oculi Photoreceptor Cells, Vertebrate Retina Pigment Epithelium of Eye Photoreceptor Cells Retinal Pigment Epithelium Retinal Rod Photoreceptor Cells Retinal Cone Photoreceptor Cells Muscle, Skeletal Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 2 Rod Cell Outer Segment Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 5 X Chromosome Myoblasts Cornea Muscles Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 3 Cell Line Muscle Fibers, Skeletal

Organisms5

Mice, Inbred mdx Rats, Mutant Strains Mice, Inbred C57BL Mice, Knockout Mice, Transgenic

Diseases69

Retinal Dystrophies Muscular Dystrophies Retinal Degeneration Myotonic Dystrophy Retinitis Pigmentosa Leber Congenital Amaurosis Muscular Dystrophy, Duchenne Polycystic Kidney, Autosomal Dominant Corneal Dystrophies, Hereditary Muscular Dystrophy, Animal Retinal Diseases Eye Diseases, Hereditary Fuchs' Endothelial Dystrophy Laurence-Moon Syndrome Muscular Dystrophy, Facioscapulohumeral Syndrome Blindness Microphthalmos Night Blindness Bardet-Biedl Syndrome Muscular Dystrophy, Emery-Dreifuss Alstrom Syndrome Macular Degeneration Abnormalities, Multiple Choroid Diseases Optic Atrophy, Autosomal Dominant Kidney Diseases, Cystic Optic Atrophies, Hereditary Optic Atrophy, Hereditary, Leber Usher Syndromes Neuroaxonal Dystrophies Optic Disk Drusen Muscular Dystrophy, Oculopharyngeal Cataract Polycystic Kidney Diseases CADASIL Vitelliform Macular Dystrophy Disease Models, Animal Vision Disorders Intellectual Disability Reflex Sympathetic Dystrophy Nails, Malformed Spinocerebellar Degenerations Cerebellar Ataxia Dementia, Multi-Infarct Chromosome Disorders Spastic Paraplegia, Hereditary Foot Deformities, Congenital Cysts Hand Deformities, Congenital Muscular Diseases Myotonic Disorders Ectodermal Dysplasia Hearing Loss, Sensorineural Spinocerebellar Ataxias Keratoderma, Palmoplantar Charcot-Marie-Tooth Disease Tuberous Sclerosis Genetic Predisposition to Disease Color Vision Defects Syndactyly Tooth Abnormalities Neurofibromatosis 1 Hypotrichosis Neuromuscular Diseases Epilepsy, Frontal Lobe Deafness Telangiectasia, Hereditary Hemorrhagic Bone Diseases, Developmental

Chemicals and Drugs32

cis-trans-Isomerases Eye Proteins Peripherins Dystrophin TRPP Cation Channels Codon, Nonsense Rhodopsin Sarcoglycans Nerve Tissue Proteins Lipofuscin Membrane Proteins Intermediate Filament Proteins Proteins Genetic Markers Rod Opsins Carrier Proteins Dystroglycans Utrophin Guanylate Cyclase ATP-Binding Cassette Transporters gamma-Crystallins Thymopoietins beta-Crystallin A Chain Lamin Type A Receptor Protein-Tyrosine Kinases Guanylate Cyclase-Activating Proteins DNA Collagen Type VI Muscle Proteins Caveolin 3 DNA Primers Extracellular Matrix Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment17

Pedigree Electroretinography DNA Mutational Analysis Chromosome Mapping Visual Acuity Fluorescein Angiography Genetic Testing Heteroduplex Analysis Polymerase Chain Reaction Tomography, Optical Coherence Visual Field Tests Disease Models, Animal Amino Acid Substitution Sequence Analysis, DNA Ophthalmoscopy Heterozygote Detection Electrooculography

Psychiatry and Psychology6

Visual Acuity Visual Fields Intellectual Disability Dementia, Multi-Infarct Vision, Ocular Family

Phenomena and Processes48

Genes, Dominant Mutation Genes, Recessive Genetic Linkage Consanguinity Lod Score Mutation, Missense Phenotype Exons Dark Adaptation Heterozygote Visual Acuity Codon, Nonsense Haplotypes Frameshift Mutation Base Sequence Polymorphism, Single-Stranded Conformational Genotype Exome Homozygote Visual Fields Point Mutation Amino Acid Sequence Genetic Markers Genetic Heterogeneity Amino Acid Substitution Penetrance Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 2 Microsatellite Repeats Alleles Trinucleotide Repeat Expansion Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 Polymorphism, Single Nucleotide Vision, Ocular Light Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 5 Genetic Predisposition to Disease Sequence Deletion X Chromosome Fluorescence Polymorphism, Genetic Founder Effect Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 3

Disciplines and Occupations1

Genetic Counseling

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Health Care4

Age of Onset Genetic Testing Family Health Genetic Counseling

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

Retinal Dystrophies Muscular Dystrophies Genes, Dominant Retinal Degeneration Myotonic Dystrophy Pedigree Retinitis Pigmentosa Leber Congenital Amaurosis Muscular Dystrophy, Duchenne Polycystic Kidney, Autosomal Dominant Electroretinography Corneal Dystrophies, Hereditary cis-trans-Isomerases Eye Proteins Fundus Oculi Mutation Muscular Dystrophy, Animal Genes, Recessive DNA Mutational Analysis Genetic Linkage Consanguinity Retinal Diseases Eye Diseases, Hereditary Fuchs' Endothelial Dystrophy Peripherins Laurence-Moon Syndrome Lod Score Mutation, Missense Photoreceptor Cells, Vertebrate Phenotype Retina Muscular Dystrophy, Facioscapulohumeral Syndrome Blindness Dystrophin Chromosome Mapping Microphthalmos Night Blindness Exons Pigment Epithelium of Eye Photoreceptor Cells TRPP Cation Channels Molecular Sequence Data Bardet-Biedl Syndrome Dark Adaptation Heterozygote Muscular Dystrophy, Emery-Dreifuss Visual Acuity Codon, Nonsense Haplotypes Age of Onset Alstrom Syndrome Fluorescein Angiography Retinal Pigment Epithelium Rhodopsin Retinal Rod Photoreceptor Cells Frameshift Mutation Macular Degeneration Base Sequence Abnormalities, Multiple Choroid Diseases Optic Atrophy, Autosomal Dominant Kidney Diseases, Cystic Polymorphism, Single-Stranded Conformational Mice, Inbred mdx Retinal Cone Photoreceptor Cells Optic Atrophies, Hereditary Optic Atrophy, Hereditary, Leber Usher Syndromes Genotype Genetic Testing Exome Homozygote Heteroduplex Analysis Sarcoglycans Neuroaxonal Dystrophies Visual Fields Rats, Mutant Strains Optic Disk Drusen Polymerase Chain Reaction Point Mutation Nerve Tissue Proteins Lipofuscin Membrane Proteins Muscular Dystrophy, Oculopharyngeal Cataract Tomography, Optical Coherence Intermediate Filament Proteins Proteins Visual Field Tests Polycystic Kidney Diseases Amino Acid Sequence CADASIL Genetic Markers Vitelliform Macular Dystrophy Disease Models, Animal Rod Opsins Carrier Proteins Vision Disorders Muscle, Skeletal

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