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Ophthalmic Genetics, ISSN 1381-6810, 05/2019, Volume 40, Issue 3, pp. 259 - 266
Purpose: Cone-rod dystrophy (CRD) is an inherited retinal dystrophy that is transmitted via different modes of inheritance. Mutations in more than 30 genes... 
incomplete penetrance | autosomal recessive inheritance pattern | Cone-rod dystrophy | CRX gene | GENETICS & HEREDITY | OPHTHALMOLOGY | MUTATIONS | HOMEOBOX GENE | ABCA4 GENE
Journal Article
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 11/2017, Volume 95, Issue 7, pp. 717 - 726
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 02/2004, Volume 45, Issue 2, pp. 375 - 384
PURPOSE. The Chx10 homeobox gene is expressed in neural progenitor cells during retinal development. The absence of Chx10 causes microphthalmia in humans and... 
ROD PHOTORECEPTORS | OCULAR RETARDATION | RDS MUTANT MICE | GANGLION-CELLS | PROGENITOR PROLIFERATION | OPHTHALMOLOGY | MOUSE RETINA | HOMEOBOX GENE | TRANSCRIPTION FACTOR | CELL-FATE DETERMINATION | HOMEODOMAIN PROTEIN | Homeodomain Proteins - metabolism | Repressor Proteins | Transcription Factors - deficiency | Retina - embryology | RNA, Messenger - metabolism | Rhodopsin - metabolism | DNA-Binding Proteins - metabolism | In Situ Hybridization | Mice, Mutant Strains | Rod Opsins - metabolism | Trans-Activators - genetics | Transcription Factor Brn-3B | Membrane Glycoproteins | Arrestin - metabolism | Fluorescent Antibody Technique, Indirect | Gene Expression Regulation, Developmental - physiology | Peripherins | Transcription Factors - physiology | Paired Box Transcription Factors | Mice, Inbred C57BL | PAX6 Transcription Factor | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | Homeodomain Proteins - genetics | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | 3',5'-Cyclic-GMP Phosphodiesterases - metabolism | Animals | Transcription Factor Brn-3 | Trans-Activators - metabolism | Cyclic Nucleotide Phosphodiesterases, Type 6 | Mice | Photoreceptor Cells, Vertebrate - metabolism | Homeodomain Proteins - physiology | Eye Proteins | Intermediate Filament Proteins - metabolism | Photoreceptor Cells, Vertebrate - pathology | Retina - pathology | Index Medicus
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 2002, Volume 134, Issue 3, pp. 465 - 467
PURPOSE: To report a novel de novo mutation in the cone-rod homeobox (CRX) gene in a Japanese patient with Leber congenital amaurosis (LCA). METHODS: The CRX... 
OPHTHALMOLOGY | HOMEOBOX GENE | Frameshift Mutation | DNA Mutational Analysis | Pedigree | Gene Deletion | Humans | Adolescent | Trans-Activators - genetics | Male | Optic Atrophy, Hereditary, Leber - genetics | Visual Acuity | Blindness - genetics | Homeodomain Proteins - genetics | Genetic aspects | Leber's congenital amaurosis | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Journal Article