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Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 765 - 787
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes.... 
icCSNB | synonymous variants | intronic variants | IRD | minigene approach | gene defect | CACNA1F | COMPLEX | LARGE COHORT | GENOME | ABCR | MUTATION SPECTRUM | UNC80 | DYSTROPHY | FAMILIES | GENETICS & HEREDITY | PROBANDS | STATIONARY NIGHT BLINDNESS | Genetic research | Genetic aspects | Nucleotide sequencing | Genes | Genomics | DNA sequencing | Phenotypes | Blindness | Retina | Genomes | Regulatory sequences | Diagnosis | Nyctalopia | Stationary night blindness
Journal Article
Journal Article
Documenta Ophthalmologica, ISSN 0012-4486, 4/2018, Volume 136, Issue 2, pp. 135 - 143
CABP4-related retinal dysfunction is a cone–rod synaptic transmission disorder with electronegative electroretinogram (ERG) waveform. It is a rare retinal... 
Electroretinography | OCT | Medicine & Public Health | CABP4 | Hemeralopia | Multimodal fundus imaging | Ophthalmology | HIGH-HYPEROPIA | OPTICAL COHERENCE TOMOGRAPHY | PHENOTYPE | CLINICAL CHARACTERIZATION | POSTERIOR MICROPHTHALMOS | LEBER CONGENITAL AMAUROSIS | GENE | OPHTHALMOLOGY | MUTATIONS | STATIONARY NIGHT BLINDNESS | Retinal Diseases - genetics | Humans | Eye Diseases, Hereditary - diagnosis | Infant | Male | Myopia - diagnosis | Genetic Diseases, X-Linked - genetics | Retrospective Studies | Night Blindness - genetics | Genetic Diseases, X-Linked - physiopathology | Fluorescein Angiography | European Continental Ancestry Group - genetics | France - epidemiology | Retinal Diseases - diagnosis | Eye Diseases, Hereditary - physiopathology | Night Blindness - diagnosis | Tomography, Optical Coherence - methods | Visual Acuity | Genetic Diseases, X-Linked - diagnosis | Eye Diseases, Hereditary - genetics | Myopia - genetics | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Mutation | Retinal Diseases - physiopathology | Fundus Oculi | Photoreceptor Cells, Vertebrate - pathology | Calcium-Binding Proteins - genetics | Medicine, Experimental | Medical research | Genetic disorders | Congenital diseases | Synaptic transmission | Blindness | Nystagmus | Tomography | Retina | Diagnosis | Nyctalopia | Stationary night blindness | Electroretinograms | Index Medicus
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 03/2019, Volume 40, Issue 2, pp. 161 - 164
Background: Congenital nystagmus is one of the most common neuro-ophthalmological disorders. X chromosome-linked forms are associated with pathogenic variants... 
molecular genetics | FRMD7 | next-generation sequencing | Congenital nystagmus | albinism
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 321 - 330
Journal Article
Genes, ISSN 2073-4425, 05/2019, Volume 10, Issue 5, p. 368
Mutations in encoding a centrosomal protein important to cilia formation cause a spectrum of diseases, from isolated retinal dystrophies to multivisceral and... 
Leber congenital amaurosis and allied retinal ciliopathies | T nonsense mutation | spontaneous nonsense correction | AON-mediated exon skipping | CEP290 | Flanders founder c.4723A > | Cilia elongation
Journal Article
Journal Article
Revue Neurologique, ISSN 0035-3787, 04/2015, Volume 171, pp. A183 - A183
Journal Article
Ophthalmology, ISSN 0161-6420, 2011, Volume 118, Issue 6, pp. 1130 - 1136
Journal Article
Journal Article