Cilia defective gene genes cases retinal dystrophies. Medical search. Frequent questions

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Anatomy17

Cilia Fundus Oculi Photoreceptor Cells, Vertebrate Retina Photoreceptor Cells Pigment Epithelium of Eye Photoreceptor Connecting Cilium Retinal Pigment Epithelium Retinal Rod Photoreceptor Cells Axoneme Retinal Cone Photoreceptor Cells Muscle, Skeletal Centrioles Rod Cell Outer Segment Flagella Ependyma Olfactory Mucosa

Organisms6

Mice, Inbred mdx Rats, Mutant Strains Mice, Knockout Mice, Inbred C57BL Paramecium Zebrafish

Diseases40

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 Bardet-Biedl Syndrome Eye Diseases, Hereditary Blindness Muscular Dystrophy, Facioscapulohumeral Kidney Diseases, Cystic Microphthalmos Night Blindness Alstrom Syndrome Muscular Dystrophy, Emery-Dreifuss Syndrome Usher Syndromes Optic Atrophy, Hereditary, Leber Macular Degeneration Ciliary Motility Disorders Choroid Diseases Neuroaxonal Dystrophies Optic Atrophies, Hereditary Optic Disk Drusen Muscular Dystrophy, Oculopharyngeal Abnormalities, Multiple Reflex Sympathetic Dystrophy Vision Disorders Vitelliform Macular Dystrophy Intellectual Disability Kartagener Syndrome Disease Models, Animal Polycystic Kidney Diseases Myotonic Disorders

Chemicals and Drugs28

cis-trans-Isomerases Eye Proteins Peripherins Dystrophin Genetic Markers DNA Codon, Nonsense Sarcoglycans Lipofuscin Rhodopsin Nerve Tissue Proteins Dystroglycans Membrane Proteins Carrier Proteins Proteins Rod Opsins Utrophin Intermediate Filament Proteins Guanylate Cyclase ATP-Binding Cassette Transporters TRPP Cation Channels Hedgehog Proteins Dyneins Axonemal Dyneins Kinesin Thymopoietins Collagen Type VI Receptor Protein-Tyrosine Kinases

Analytical, Diagnostic and Therapeutic Techniques and Equipment14

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

Psychiatry and Psychology4

Visual Acuity Visual Fields Intellectual Disability Vision, Ocular

Phenomena and Processes30

Mutation Genetic Linkage Homozygote Phenotype Consanguinity Genes, Recessive Base Sequence Amino Acid Sequence Haplotypes Genotype Genetic Markers Alleles Genes Dark Adaptation Visual Acuity Genes, Dominant Mutation, Missense Exons Codon, Nonsense Visual Fields Exome Heterozygote Polymorphism, Single-Stranded Conformational Lod Score Frameshift Mutation Vision, Ocular Point Mutation Light Fluorescence Trinucleotide Repeat Expansion

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Health Care2

Age of Onset Genetic Testing

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

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

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