X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (183) 183
humans (149) 149
ophthalmology (148) 148
male (97) 97
genetics & heredity (94) 94
female (90) 90
mutation (72) 72
animals (68) 68
pedigree (59) 59
mice (49) 49
adult (47) 47
biochemistry & molecular biology (42) 42
middle aged (39) 39
eye diseases (37) 37
dna mutational analysis (34) 34
sense organs (33) 33
molecular sequence data (31) 31
base sequence (30) 30
genetics (30) 30
genetic aspects (29) 29
phenotype (27) 27
child (26) 26
research (24) 24
adolescent (23) 23
expression (23) 23
gene (23) 23
aged (22) 22
corneal dystrophies, hereditary - genetics (22) 22
eye proteins - genetics (22) 22
proteins (22) 22
analysis (21) 21
child, preschool (21) 21
genes (21) 21
mutations (21) 21
research article (21) 21
apoptosis (20) 20
cell biology (20) 20
genetic linkage (20) 20
polymerase chain reaction (20) 20
chromosome mapping (19) 19
medicine, research & experimental (19) 19
retina (19) 19
gene expression (18) 18
genetic structures (18) 18
protein (18) 18
cell line (17) 17
retinal degeneration (17) 17
electroretinography (16) 16
point mutation (16) 16
extracellular matrix proteins - genetics (14) 14
family (14) 14
retinitis-pigmentosa (14) 14
biotechnology & applied microbiology (13) 13
blotting, western (13) 13
carrier proteins - genetics (13) 13
genotype (13) 13
homozygote (13) 13
infant (13) 13
reverse transcriptase polymerase chain reaction (13) 13
transcription factors - genetics (13) 13
dna (12) 12
dystrophy (12) 12
exons (12) 12
eye (12) 12
gene expression regulation (12) 12
genetic research (12) 12
identification (12) 12
retinitis pigmentosa (12) 12
retinitis pigmentosa - genetics (12) 12
transforming growth factor beta - genetics (12) 12
amino acid sequence (11) 11
biology (11) 11
blindness (11) 11
degeneration (11) 11
disease (11) 11
gene mutations (11) 11
macular degeneration (11) 11
mice, inbred c57bl (11) 11
multidisciplinary sciences (11) 11
photoreceptors (11) 11
retinal degeneration - genetics (11) 11
syndrome (11) 11
apoptosis - physiology (10) 10
beta-ig-h3 (10) 10
cataract - genetics (10) 10
cells (10) 10
human genetics (10) 10
leber congenital amaurosis (10) 10
macular degeneration - genetics (10) 10
tomography, optical coherence (10) 10
alleles (9) 9
cells, cultured (9) 9
cone-rod dystrophy (9) 9
corneal dystrophies, hereditary - pathology (9) 9
disease models, animal (9) 9
extracellular matrix proteins - metabolism (9) 9
fluorescein angiography (9) 9
genes, dominant (9) 9
genetic disorders (9) 9
growth-factor-beta (9) 9
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Human Molecular Genetics, ISSN 0964-6906, 08/2013, Volume 22, Issue 16, pp. 3218 - 3226
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2009, Volume 4, Issue 8, pp. e6616 - e6616
Pathogenesis in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA) is characterized by a slow and progressive degeneration of the rod... 
SEVERE RETINAL DYSTROPHY | VISUAL CYCLE | NIGHT BLINDNESS | ALPHA-SUBUNIT | BIOLOGY | RECESSIVE RETINITIS-PIGMENTOSA | BINDING-PROTEIN | DEFICIENT MICE | RPE65(-/-) MOUSE MODEL | GATED CHANNEL | CELL-DEATH | Carrier Proteins - physiology | Leber Congenital Amaurosis - pathology | Transducin - genetics | GTP-Binding Protein alpha Subunits - genetics | bcl-2-Associated X Protein - physiology | Leber Congenital Amaurosis - complications | Mice, Knockout | Carrier Proteins - genetics | Animals | Transducin - physiology | Vision, Ocular | GTP-Binding Protein alpha Subunits - physiology | Retinal Cone Photoreceptor Cells - pathology | Retinal Diseases - pathology | Eye Proteins - physiology | Mice | Apoptosis - physiology | Eye Proteins - genetics | cis-trans-Isomerases | Retinal Rod Photoreceptor Cells - pathology | bcl-2-Associated X Protein - genetics | Genetic disorders | Gene mutations | Analysis | Physiological aspects | Development and progression | Genetic aspects | Apoptosis | Bax protein | Bcl-2 protein | Pathogenesis | Transducin | Retina | Activation | Rods | Retinal pigment epithelium | Signal transduction | Pathways | Rodents | Degeneration | Age | Photoreception | Gene expression | Epithelium | Signaling | Phototransduction | Cones | Cell death | Blindness | Retinal degeneration | Photoreceptors | Mutation | Index Medicus
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 09/2018, Volume 39, Issue 5, pp. 637 - 641
Journal Article
BioMed Research International, ISSN 2314-6133, 2013, Volume 2013, pp. 198089 - 9
The molecular diagnosis of retinal dystrophies is difficult because of the very important number of genes implicated and is rarely helped by genotype-phenotype... 
MEDICINE, RESEARCH & EXPERIMENTAL | LEBER CONGENITAL AMAUROSIS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | PERFORMANCE | GENES | IDENTIFICATION | CAPTURE | STRATEGIES | Exons | Humans | Retinitis Pigmentosa - genetics | Female | Male | Mutation | DNA Mutational Analysis - methods | Polymerase Chain Reaction - methods | Retinitis Pigmentosa - diagnosis | Index Medicus | Data processing
Journal Article
Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 04/2016, Volume 233, Issue 4, pp. 456 - 459
Background: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously... 
RPGRIP1 | cone-rod dystrophy | Leber congenital amaurosis | genetics | OPHTHALMOLOGY | PROTEINS
Journal Article
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 07/2012, Volume 53, Issue 8, pp. 4754 - 4764
Journal Article
Human Mutation, ISSN 1059-7794, 06/2015, Volume 36, Issue 6, pp. 599 - 610
Journal Article
Journal Article
Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 2014, Volume 231, Issue 4, pp. 447 - 452
Purpose: The aim of this study was to evaluate the oxygen saturation in patients with inherited diseases of the retina. Methods: Fundus oximetry images were... 
retinal vessel oximetry | rod-cone dystrophy | cone-rod dystrophy | oxygen saturation | maculopathy | inherited retinal dystrophy | DIABETIC-RETINOPATHY | LIGHT | DARK | PIGMENTOSA | BLOOD-FLOW | DEGENERATION | OXIMETRY | OPHTHALMOLOGY | GLAUCOMA | DYSTROPHIES | CONSUMPTION
Journal Article
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 09/2010, Volume 51, Issue 9, pp. 4771 - 4780
PURPOSE. To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in... 
ABNORMAL FUNDUS AUTOFLUORESCENCE | ELECTRORETINOGRAPHY | CHROMOSOME-4 | GENE | OPHTHALMOLOGY | FRAMESHIFT MUTATION | PHENOTYPES | UPDATE | ISCEV STANDARD | RETINITIS-PIGMENTOSA | PHOTORECEPTOR DEGENERATION
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 88, Issue 3, pp. 382 - 390
Journal Article