X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (791) 791
Book Review (175) 175
Publication (124) 124
Book Chapter (30) 30
Conference Proceeding (9) 9
Book / eBook (1) 1
Reference (1) 1
Trade Publication Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
stationary night blindness (669) 669
index medicus (638) 638
humans (449) 449
animals (351) 351
ophthalmology (343) 343
male (244) 244
female (201) 201
retina (199) 199
electroretinography (196) 196
mice (173) 173
mutation (170) 170
neurosciences (142) 142
congenital stationary night blindness (135) 135
adult (133) 133
night blindness - genetics (117) 117
biochemistry & molecular biology (116) 116
gene (116) 116
electroretinogram (113) 113
sense organs (104) 104
genetics & heredity (96) 96
pedigree (92) 92
middle aged (86) 86
adolescent (83) 83
mutations (82) 82
genetic structures (80) 80
night blindness - physiopathology (76) 76
photoreceptors (75) 75
child (72) 72
molecular sequence data (72) 72
eye diseases (67) 67
phenotype (64) 64
analysis (62) 62
bipolar cells (60) 60
retinitis-pigmentosa (60) 60
myopia - genetics (59) 59
retinitis pigmentosa (58) 58
blindness (57) 57
light (57) 57
mice, inbred c57bl (57) 57
article (54) 54
genes (54) 54
genetic diseases, x-linked - genetics (54) 54
retinal degeneration (53) 53
dark adaptation (52) 52
genetic aspects (52) 52
photic stimulation (52) 52
photoreceptor (52) 52
proteins (52) 52
retina - metabolism (52) 52
disease models, animal (51) 51
retina - physiology (51) 51
dna mutational analysis (49) 49
amino acid sequence (48) 48
leber congenital amaurosis (48) 48
cell biology (47) 47
eye diseases, hereditary - genetics (47) 47
nyctalopia (47) 47
b-wave (46) 46
ca2+ channels (46) 46
genetics (46) 46
night blindness - congenital (46) 46
research (46) 46
genetic disorders (45) 45
erg (44) 44
retina - physiopathology (44) 44
retinal degeneration - genetics (44) 44
calcium channels, l-type - genetics (43) 43
mice, knockout (43) 43
mouse retina (43) 43
base sequence (42) 42
calcium channels - genetics (41) 41
genotype (41) 41
retinitis pigmentosa - genetics (41) 41
rhodopsin (41) 41
rod (41) 41
chromosome mapping (40) 40
medicine & public health (39) 39
mouse (39) 39
signal transduction (39) 39
calcium channels - metabolism (38) 38
child, preschool (38) 38
eye proteins - genetics (38) 38
multidisciplinary sciences (38) 38
dominant retinitis-pigmentosa (37) 37
phototransduction (37) 37
research article (37) 37
expression (36) 36
gene expression (36) 36
localization (36) 36
aged (35) 35
cone photoreceptors (35) 35
genetic linkage (34) 34
oscillatory potentials (34) 34
rat retina (34) 34
x chromosome (34) 34
myopia - physiopathology (33) 33
neurons (33) 33
recessive retinitis-pigmentosa (33) 33
retinal rod photoreceptor cells - physiology (33) 33
calcium channels, l-type - metabolism (32) 32
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (786) 786
French (8) 8
German (8) 8
Korean (3) 3
Slovenian (2) 2
Czech (1) 1
Italian (1) 1
Polish (1) 1
Spanish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


JAMA Ophthalmology, ISSN 2168-6165, 04/2018, Volume 136, Issue 4, p. 398
We are in the midst of an unprecedented and exciting paradigm shift in ophthalmology and the visual sciences. We are deepening our understanding and... 
Genotype & phenotype | Phototransduction | Phenotypes | Visual impairment | Blindness | Retina | Ophthalmology | Nyctalopia | Stationary night blindness
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 04/2018, Volume 136, Issue 4, p. 389
Importance Congenital stationary night blindness (CSNB) implies a stable condition, with the major symptom being nyctalopia present at birth. Pediatric... 
Congenital diseases | Strabismus | Channelopathy | Visual field | Refraction | Myopia | Nyctalopia | Genetic screening | Children & youth | Acuity | Proteins | Genotype & phenotype | Transient receptor potential proteins | Visual thresholds | Blindness | Nystagmus | Children | Diagnosis | Stationary night blindness | Age
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 10/2016, Volume 94, Issue S256, p. n/a
To demonstrate that flash adaptometry, in x-linked congenital stationary night blindness with myopia, besides quantification of reduced light sensitivity,... 
Genetic disorders | Darkness | Thresholds | Night | Dark adaptation | Spatial discrimination | Myopia | Orientation | Nyctalopia | Flicker | Luminous intensity | Sensitivity | Luminance | Blindness | Illumination | Temporal resolution | Stationary night blindness | Recognition | Stimuli | Adaptation
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 331 - 339
Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive... 
COMPLETE FORM | LIGHT RESPONSE | CHANNEL | MGLUR6 | SYNAPTIC-TRANSMISSION | MOUSE MODEL | GENETICS & HEREDITY | NYCTALOPIN | RICH REPEAT PROTEIN | MUTATIONS | CONE ELECTRORETINOGRAM | Electroretinography - methods | Night Blindness - metabolism | Humans | Dark Adaptation - genetics | Retinal Rod Photoreceptor Cells - metabolism | Gene Knockdown Techniques - methods | Myopia - metabolism | Receptors, Metabotropic Glutamate - genetics | Retinal Bipolar Cells - physiology | Chromosome Mapping - methods | Genetic Diseases, X-Linked | Night Blindness - genetics | Retinal Bipolar Cells - metabolism | Eye Diseases, Hereditary | Signal Transduction | Mice, Inbred C57BL | Zebrafish | Mice, Inbred C3H | Myopia - genetics | Animals | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Retinal Rod Photoreceptor Cells - physiology | Heterozygote | Mice | Receptors, G-Protein-Coupled - genetics | Mutation | Chromosome mapping | Usage | Gene mutations | Retinal bipolar cells | Causes of | Physiological aspects | Night blindness | Genetic aspects | Research | Analysis | Genetic disorders | Proteins | Rodents | Blindness | Gene expression | Cells | Index Medicus | Animal models | Antibodies | Insertion | stationary night blindness | Retina | Guanine nucleotide-binding protein | Electroretinograms | Depolarization | Signal transduction | Vision | Bipolar cells | Gene mapping | DNA sequencing | Report
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 1011 - 1019
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2014, Volume 9, Issue 3, pp. e90342 - e90342
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, pp. e86769 - e86769
Light-dependent conductance changes of voltage-gated Ca(v)1.4 channels regulate neurotransmitter release at photoreceptor ribbon synapses. Mutations in the... 
CACNA1F MUTATION | CELLS | LOCALIZATION | CALCIUM-CHANNELS | GENE | ROD | MULTIDISCIPLINARY SCIENCES | SYNAPTIC-TRANSMISSION | RAT RETINA | LINKED RETINAL DISORDER | RIBBON SYNAPSES | Electroretinography - methods | Membrane Potentials - genetics | Calcium Channels - metabolism | Calcium - metabolism | Night Blindness - metabolism | Male | Synapses - genetics | Retinal Rod Photoreceptor Cells - metabolism | Retinal Degeneration - metabolism | Myopia - metabolism | Synapses - metabolism | Female | Genetic Diseases, X-Linked - genetics | Models, Animal | Calcium Channels - genetics | Night Blindness - genetics | Retinal Degeneration - genetics | Genetic Diseases, X-Linked - metabolism | Mutation - genetics | Eye Diseases, Hereditary - genetics | Myopia - genetics | Animals | Mice | Retinal Horizontal Cells - metabolism | Longitudinal Studies | Eye Diseases, Hereditary - metabolism | Physiological aspects | Genetic aspects | Genetic disorders | Animal models | Night | Laboratories | Biology | Nyctalopia | Channels | Calcium influx | Depolarization | Proteins | Synaptic ribbons | Physiology | Degeneration | Gating | Age | Neurotransmitter release | Channel gating | Calcium channels (voltage-gated) | Mutants | Resistance | Correlation analysis | Blindness | Retinal degeneration | Photoreceptors | Conductance | Mutation | Stationary night blindness | Synapses | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2015, Volume 10, Issue 9, pp. e0137072 - e0137072
Congenital stationary night blindness (CSNB) is a non-progressive, clinically and genetically heterogeneous disease of impaired night vision. We report a... 
METABOTROPIC GLUTAMATE-RECEPTOR | LIGHT RESPONSE | RABBIT RETINA | MULTIDISCIPLINARY SCIENCES | DEPOLARIZING BIPOLAR | SYNAPTIC-TRANSMISSION | ROD BIPOLAR CELLS | GENE-EXPRESSION | FRAMESHIFT MUTATION | RETINITIS-PIGMENTOSA | MAMMALIAN RETINA | RGS Proteins - genetics | Night Blindness - metabolism | Humans | Heterotrimeric GTP-Binding Proteins - metabolism | Male | Heterotrimeric GTP-Binding Proteins - genetics | Myopia - metabolism | Night Blindness - pathology | RGS Proteins - metabolism | Female | Genetic Diseases, X-Linked - genetics | Night Blindness - genetics | Genetic Diseases, X-Linked - physiopathology | Disease Models, Animal | Genetic Predisposition to Disease - genetics | Eye Diseases, Hereditary - pathology | Eye Diseases, Hereditary - physiopathology | Retina - physiopathology | Gene Expression Regulation | Retinal Cone Photoreceptor Cells - physiology | Proteoglycans - metabolism | Myopia - pathology | Presynaptic Terminals - physiology | Genetic Diseases, X-Linked - metabolism | Eye Diseases, Hereditary - genetics | Myopia - genetics | Animals | Calcium Channels, L-Type - genetics | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Dogs | Genetic Diseases, X-Linked - pathology | Presynaptic Terminals - metabolism | Calcium Channels, L-Type - metabolism | Retinal Cone Photoreceptor Cells - metabolism | Eye Diseases, Hereditary - metabolism | Proteoglycans - genetics | Immunohistochemistry | Veterinary colleges | Protein kinase C | Disease | Genes | Antibodies | Retina | Labelling | Rods | Nyctalopia | Veterinary medicine | Homozygosity | Modulators | Defects | Gene sequencing | Proteins | Signal transduction | Rodents | Bipolar cells | Synaptic ribbons | Dendrites | Terminals | University graduates | Night vision | Phenotypes | Congenital diseases | Immunomodulation | Gene expression | Electron microscopy | Spherules | Cones | Vision | Blindness | Photoreceptors | Mutation | Gene mapping | Stationary night blindness | Cellular structure | Pharmaceuticals | Index Medicus
Journal Article