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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
Cell Stem Cell, ISSN 1934-5909, 06/2016, Volume 18, Issue 6, pp. 769 - 781
Summary Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an... 
RETINAL DEGENERATION | JOUBERT-SYNDROME | CELLS | LEBER CONGENITAL AMAUROSIS | TRANSITION ZONE | MUTATION | GENES | LINKED RETINITIS-PIGMENTOSA | CEP290 | CENTROSOMAL PROTEIN | CELL & TISSUE ENGINEERING | CELL BIOLOGY | retinal degeneration | Splicing | Therapeutic applications | Optics | Antisense | Blindness | Stem cells | Photoreceptors | Children | retinal pigment epithelium | Mutation | Protein transport | Inhibitory postsynaptic potentials | Cilia | 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
The American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1305 - 1315
Journal Article
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2019
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
The American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1338 - 1352
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
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 01/2016, Volume 100, Issue 1, pp. 115 - 121
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 321 - 329
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2015, Volume 24, Issue 4, pp. 972 - 986
Journal Article