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The American Journal of Human Genetics, ISSN 0002-9297, 01/2013, Volume 92, Issue 1, pp. 67 - 75
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2014, Volume 9, Issue 3, pp. e90342 - e90342
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, pp. e0127319 - e0127319
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2012, Volume 7, Issue 7, pp. e41992 - e41992
Journal Article
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 03/2017, Volume 58, Issue 3, pp. 1768 - 1778
PURPOSE. Mutations in LRIT3 lead to complete congenital stationary night blindness (cCSNB). Using a cCSNB mouse model lacking Lrit3 (nob6), we recently have... 
Retina | Congenital stationary night blindness | Multielectrode array | Electron microscopy | LRIT3 | METABOTROPIC GLUTAMATE-RECEPTOR | PHOTORECEPTOR SYNAPSES | congenital stationary night blindness | OUTER PLEXIFORM LAYER | MAMMALIAN RETINA | RETINAL GANGLION-CELLS | multielectrode array | retina | MGLUR6 | OPHTHALMOLOGY | electron microscopy | MOUSE RETINA | NORMAL LIGHT | STATIONARY NIGHT BLINDNESS | VISUAL RESPONSES | Immunohistochemistry | Synaptic Transmission - genetics | Night Blindness - metabolism | Humans | Male | Dendrites - ultrastructure | Retinal Cone Photoreceptor Cells - ultrastructure | Myopia - metabolism | Young Adult | Synapses - metabolism | DNA Mutational Analysis | Night Blindness - pathology | Female | Genetic Diseases, X-Linked - genetics | Membrane Proteins - metabolism | Retrospective Studies | Night Blindness - genetics | Electroretinography | Dendrites - metabolism | Retinal Bipolar Cells - metabolism | Eye Diseases, Hereditary - pathology | Membrane Proteins - genetics | Myopia - pathology | Synapses - ultrastructure | Genetic Diseases, X-Linked - metabolism | Microscopy, Electron | Eye Diseases, Hereditary - genetics | Mice, Knockout | DNA - genetics | Myopia - genetics | Animals | Retinal Bipolar Cells - ultrastructure | Genetic Diseases, X-Linked - pathology | Mice | Mutation | Retinal Cone Photoreceptor Cells - metabolism | Eye Diseases, Hereditary - metabolism | Index Medicus | Life Sciences | Human health and pathology | Sensory Organs | Visual Neuroscience
Journal Article
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
Clinical Genetics, ISSN 0009-9163, 06/2016, Volume 89, Issue 6, pp. 690 - 699
Congenital stationary night blindness ( CSNB ) is a clinically and genetically heterogeneous retinal disorder which represents rod photoreceptor dysfunction or... 
SLC24A1 | high‐throughput sequencing | congenital stationary night blindness | humans | Congenital stationary night blindness | High-throughput sequencing | Humans | RHODOPSIN GENE | ALPHA-SUBUNIT | CHANNEL | PATHOGENIC MECHANISMS | ROD TRANSDUCIN | GENETICS & HEREDITY | MISSENSE MUTATION | ELECTRORETINOGRAM | CONE DYSTROPHY | NA/CA-K EXCHANGER | NA+/CA2+-K+ EXCHANGERS | high-throughput sequencing | Eye Diseases, Hereditary - diagnosis | Family Health | Male | Sodium-Calcium Exchanger - genetics | Base Sequence | Myopia - diagnosis | Female | Genetic Diseases, X-Linked - genetics | High-Throughput Nucleotide Sequencing - methods | Night Blindness - genetics | Genetic Diseases, X-Linked - physiopathology | Electroretinography | Amino Acid Sequence | Genetic Predisposition to Disease - genetics | Eye Diseases, Hereditary - physiopathology | Night Blindness - diagnosis | Genes, Recessive | Genetic Diseases, X-Linked - diagnosis | Eye Diseases, Hereditary - genetics | Myopia - genetics | Sequence Homology, Amino Acid | Homozygote | Exome - genetics | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Mutation | Analysis | Genomics | Genetic disorders | Retina | Photoreceptors | Eye diseases | Congenital diseases | Blindness | Index Medicus | Life Sciences | Human health and pathology | Genetics
Journal Article
PLoS ONE, 03/2014, Volume 9, Issue 3
Mutations in LRIT3, coding for a Leucine-Rich Repeat, immunoglobulin-like and transmembrane domains 3 protein lead to autosomal recessive complete congenital... 
Journal Article
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