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Cell Stem Cell, ISSN 1934-5909, 06/2016, Volume 18, Issue 6, pp. 769 - 781
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic... 
RETINAL DEGENERATION | JOUBERT-SYNDROME | CELLS | LEBER CONGENITAL AMAUROSIS | TRANSITION ZONE | MUTATION | GENES | LINKED RETINITIS-PIGMENTOSA | CEP290 | CENTROSOMAL PROTEIN | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Leber Congenital Amaurosis - pathology | Optic Disk - cytology | Retinal Pigment Epithelium - metabolism | Humans | Blindness - pathology | Male | Organogenesis - drug effects | Neoplasm Proteins - metabolism | RNA, Messenger - metabolism | Retinal Pigment Epithelium - pathology | Retinal Pigment Epithelium - ultrastructure | RNA Splicing - genetics | Antigens, Neoplasm - metabolism | Cilia - drug effects | Inheritance Patterns - genetics | Blindness - therapy | Induced Pluripotent Stem Cells - cytology | Neoplasm Proteins - genetics | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Retinal Pigment Epithelium - drug effects | rab GTP-Binding Proteins - metabolism | Antigens, Neoplasm - genetics | RNA Splicing - drug effects | Photoreceptor Cells, Vertebrate - ultrastructure | Induced Pluripotent Stem Cells - drug effects | RNA, Messenger - genetics | Exons - genetics | Fibroblasts - pathology | Cilia - metabolism | Eye Proteins - metabolism | Cell Differentiation - drug effects | Fibroblasts - drug effects | Morpholinos - pharmacology | Opsins - metabolism | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019
Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD). OMIM# of the disease 122000; 609141; 618031. Name of the analysed... 
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 01/2016, Volume 100, Issue 1, pp. 115 - 121
Journal Article
Biochemical Society transactions, ISSN 0300-5127, 10/2016, Volume 44, Issue 5, pp. 1245 - 1251
The photoreceptor cells in the retina have a highly specialized sensory cilium, the outer segment, which is important for detecting light. Mutations in cilia... 
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 08/2018, Volume 59, Issue 10, pp. 4238 - 4248
PURPOSE. To assess residual cone structure in subjects with mutations in exon 2, 3, and 4 of the OPN1LW or OPN1MW opsin. METHODS. Thirteen males had their... 
Color blindness | Retinal imaging | Myopia | Photoreceptor | DYSFUNCTION SYNDROME | photoreceptor | ADAPTIVE OPTICS | HIGH MYOPIA | RELIABILITY | retinal imaging | DENSITY-MEASUREMENTS | color blindness | VARIABILITY | REPEATABILITY | PHOTORECEPTOR STRUCTURE | DISEASE | myopia | OPHTHALMOLOGY | LINKAGE | Index Medicus | Retina
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2015, Volume 24, Issue 4, pp. 972 - 986
Journal Article
Archives of Disease in Childhood, ISSN 0007-1161, 01/2015, Volume 100, Issue 1, p. 115
The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision and... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1305 - 1315
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 08/2016, Volume 134, Issue 8, p. 924
  Mutations in phototransduction and retinal signaling genes are implicated in many retinopathies. To our knowledge, GNB3 encoding the G-protein ... subunit 3... 
Proteins | Signal transduction | Genotype & phenotype | Rodents | Mutation | Cells
Journal Article
Human molecular genetics, ISSN 0964-6906, 09/2017, Volume 26, Issue 17, pp. 3451 - 3451
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 06/2019
ImportanceKeratoconus is an important cause of visual loss in young adults, but little is known about its genetic causes. Understanding the genetic... 
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 12/2014, Volume 35, Issue 4, pp. 252 - 254
Journal Article