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Ophthalmic Genetics, ISSN 1381-6810, 03/2019, Volume 40, Issue 2, pp. 185 - 187
Journal Article
Scientific Reports, ISSN 2045-2322, 09/2016, Volume 6, Issue 1, pp. 33681 - 33681
Retinitis pigmentosa (RP) is a leading cause of inherited blindness characterized by progressive degeneration of the retinal photoreceptor cells. This study... 
MOLECULAR-GENETICS | LECTURE | LEBER CONGENITAL AMAUROSIS | DISEASES | INHERITED RETINAL DYSTROPHIES | MULTIDISCIPLINARY SCIENCES | GENES | GENOTYPING MICROARRAY | HOMOLOG | DROSOPHILA-CRUMBS | SPANISH FAMILIES | Splicing | Retinitis pigmentosa | Point mutation | Blindness | Retinal degeneration | Retina | Retinitis | Mutation | Patients
Journal Article
Molecular Vision, ISSN 1090-0535, 01/2015, Volume 21, pp. 88 - 97
Purpose: Aniridia is a rare panocular disorder characterized by iris hypoplasia and other associated eye anomalies. Heterozygous null mutations in paired box... 
DEFECTS | NONSENSE | DNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | OPHTHALMOLOGY | MESSENGER-RNA DECAY | PAX6 GENE | DELETIONS | MISSENSE MUTATIONS | PREDICTION | REGION | Iris - metabolism | Humans | Middle Aged | Cataract - pathology | Child, Preschool | Fovea Centralis - pathology | Male | Nystagmus, Congenital - genetics | Aniridia - genetics | Aniridia - pathology | DNA Mutational Analysis | Nystagmus, Pathologic - complications | Base Sequence | Child | Amino Acid Sequence | Eye Diseases, Hereditary - pathology | Eye Diseases, Hereditary - complications | Repressor Proteins - genetics | Aniridia - complications | Genetic Heterogeneity | India | Cataract - complications | Adolescent | Cataract - genetics | Mutation | Glaucoma - genetics | Paired Box Transcription Factors - genetics | Retinal Diseases - genetics | Nystagmus, Congenital - complications | Nystagmus, Pathologic - genetics | Open Reading Frames | Molecular Sequence Data | Infant | Retinal Diseases - congenital | Case-Control Studies | Retinal Diseases - pathology | Adult | Female | Eye Proteins - genetics | Nystagmus, Pathologic - pathology | Fovea Centralis - abnormalities | Genetic Association Studies | Introns | Retinal Diseases - complications | PAX6 Transcription Factor | Glaucoma - complications | Iris - pathology | Homeodomain Proteins - genetics | Eye Diseases, Hereditary - genetics | Haploinsufficiency | Nystagmus, Congenital - pathology | Aged | Glaucoma - pathology | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 3/2009, Volume 18, Issue 6, pp. 1110 - 1121
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 09/2019, Volume 103, Issue 9, p. 1223
BackgroundCataract is a major health burden in many countries and a significant problem in India. While observational studies show lower cataract risk with... 
ascorbate | epidemiology | genetics | lens and zonules
Journal Article
Journal of Clinical Neonatology, ISSN 2249-4847, 2018, Volume 7, Issue 1, p. 59
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 07/2018, Volume 27, Issue 14, pp. 2563 - 2572
Abstract Retinitis pigmentosa (RP) refers to a group of retinal degenerative diseases, which often lead to vision loss. Although 70 genes have been identified... 
CRB1 | LIGAND-BINDING | GENE | INHERITED RETINAL DYSTROPHIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | AH-RECEPTOR | GENETICS & HEREDITY | MICE | PREVALENCE | POLYMORPHISM | IDENTIFICATION | DEGENERATION | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 07/2018, Volume 27, Issue 14, pp. 2587 - 2587
Journal Article
Human molecular genetics, ISSN 0964-6906, 04/2019, Volume 28, Issue 15, pp. 2531 - 2548
LOXL1 (lysyl oxidase-like 1) has been identified as the major effect locus in pseudoexfoliation (PEX) syndrome, a fibrotic disorder of the extracellular matrix... 
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