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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
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 06/2017, Volume 58, Issue 8
Conference Proceeding
Retina, ISSN 0275-004X, 10/2012, Volume 32, Issue 9, pp. 1942 - 1949
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 10/2001, Volume 10, Issue 21, pp. 2415 - 2423
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 20, pp. 4546 - 4555
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2002, Volume 99, Issue 20, pp. 13067 - 13072
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 07/2010, Volume 51, Issue 7, pp. 3354 - 3361
PURPOSE. Knowledge of genetic factors predisposing to age-related cataract is very limited. The aim of this study was to identify DNA sequences that either... 
S-TRANSFERASE M1 | OPEN READING FRAME | TRANSLATIONAL REGULATION | ITALIAN POPULATION | EXONIC SPLICING ENHANCERS | CONGENITAL CATARACT | VISUAL IMPAIRMENT | DECARBOXYLASE MESSENGER-RNA | OPHTHALMOLOGY | CORTICAL CATARACT | BEAVER DAM EYE
Journal Article
Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 04/2015, Volume 232, Issue 4, pp. 427 - 431
Background and Purpose: Transgenic mice over-expressing Notch2 in the uvea exhibit a hyperplastic ciliary body leading to increased IOP and glaucoma. The aim... 
NOTCH2 | high-performance liquid chromatography | genetics | primary open angle glaucoma | SYSTEM | EYE | GENE | OPHTHALMOLOGY | MUTATIONS | IDENTIFICATION | CILIARY BODY
Journal Article
Journal Article
Journal Article
Journal of Ophthalmology, ISSN 2090-004X, 2018, Volume 2018, pp. 1030184 - 7
To assess the progression of Stargardt (STGD) disease over nine years in two branches of a large consanguineous Tunisian family. Initially, different... 
MEDICINE, RESEARCH & EXPERIMENTAL | TRANSPORTER SUPERFAMILY | RIM PROTEIN | DYSTROPHY | FUNDUS FLAVIMACULATUS | OPHTHALMOLOGY | MACULAR DEGENERATION | GENE ABCR | MICE | CONE
Journal Article
Molecular Vision, ISSN 1090-0535, 2011, Volume 17, Issue 144, pp. 1287 - 1297
Purpose: In this study, we investigated the expression of the gene encoding beta-galactosidase (Glb)-1-like protein 3 (Glb1l3), a member of the glycosyl... 
RPE65 GENE | VISUAL CYCLE | METABOLISM | GM1 GANGLIOSIDOSIS | FAMILIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | ISOMERASE | DISEASE | BINDING-PROTEIN | OPHTHALMOLOGY | MUTATIONS | GLYCOSYL HYDROLASES
Journal Article