X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (304) 304
humans (272) 272
mutation (174) 174
female (171) 171
male (160) 160
ophthalmology (144) 144
genetics & heredity (109) 109
pedigree (106) 106
adult (103) 103
animals (73) 73
genetic aspects (73) 73
middle aged (68) 68
child (67) 67
phenotype (67) 67
retinitis pigmentosa - genetics (67) 67
electroretinography (65) 65
genetics (65) 65
autosomal recessive (64) 64
adolescent (62) 62
retinitis pigmentosa (56) 56
dna mutational analysis (55) 55
genes (52) 52
mutations (52) 52
eye proteins - genetics (50) 50
eye diseases (49) 49
disease (47) 47
gene (47) 47
retina (47) 47
child, preschool (42) 42
medicine (42) 42
proteins (40) 40
retinitis-pigmentosa (40) 40
sense organs (40) 40
multidisciplinary sciences (39) 39
analysis (38) 38
research article (37) 37
retinal degeneration (37) 37
aged (36) 36
mice (35) 35
genetic structures (34) 34
science (32) 32
article (31) 31
biochemistry & molecular biology (31) 31
genes, recessive (31) 31
young adult (31) 31
research (30) 30
base sequence (29) 29
consanguinity (29) 29
family (29) 29
polymerase chain reaction (29) 29
degeneration (28) 28
photoreceptors (28) 28
biology (27) 27
gene mutations (27) 27
clinical genetics (26) 26
cone-rod dystrophy (26) 26
genetic research (26) 26
leber congenital amaurosis (26) 26
patients (26) 26
tomography, optical coherence (26) 26
autosomal dominant (25) 25
deoxyribonucleic acid--dna (25) 25
genotype (25) 25
neurosciences (25) 25
retinal degeneration - genetics (25) 25
genomics (24) 24
identification (24) 24
infant (24) 24
medicine & public health (24) 24
dystrophy (23) 23
genomes (23) 23
syndrome (23) 23
autosomal-dominant cone (22) 22
cell biology (22) 22
mutation, missense (22) 22
protein (22) 22
retinal diseases - genetics (22) 22
molecular sequence data (21) 21
autosomal recessive inheritance (20) 20
diagnosis (20) 20
fundus oculi (20) 20
genes, dominant (20) 20
pediatrics (20) 20
visual acuity (20) 20
disease models, animal (19) 19
genetic disorders (19) 19
genetic testing (19) 19
locus (19) 19
mutation - genetics (19) 19
optical coherence tomography (19) 19
retinitis (19) 19
visual acuity - physiology (19) 19
amino acid sequence (18) 18
retinal dystrophy (18) 18
retinitis pigmentosa - diagnosis (18) 18
alleles (17) 17
color vision defects - genetics (17) 17
human genetics (17) 17
macular degeneration (17) 17
polymorphism, single nucleotide (17) 17
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Ophthalmology, ISSN 0161-6420, 2012, Volume 119, Issue 4, pp. 819 - 826
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2009, Volume 85, Issue 2, pp. 240 - 247
Journal Article
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 01/2016, Volume 57, Issue 1, pp. 145 - 152
Journal Article
Molecular Vision, ISSN 1090-0535, 02/2018, Volume 24, pp. 105 - 114
Purpose: To describe the retinal clinical features of a group of Mexican patients with Stargardt disease carrying the uncommon p.Ala1773Val founder mutation in... 
CONE-ROD DYSTROPHY | STARGARDT MACULAR DYSTROPHY | DEGENERATIONS | FUNDUS FLAVIMACULATUS | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRANSPORTER GENE ABCR | DISEASE | SEQUENCE VARIATIONS | OPHTHALMOLOGY | AUTOSOMAL RECESSIVE CONE | RETINITIS-PIGMENTOSA | PROGRESSION
Journal Article
Journal Article
Meta Gene, ISSN 2214-5400, 06/2016, Volume 8, pp. 37 - 43
Retinal dystrophies are a clinically and genetically heterogeneous group of disorders which affect more than two million people worldwide. The present study... 
ABCA4 mutations | autosomal recessive retinitis pigmentosa | Stargardt's disease | autosomal recessive cone-rod dystrophy | Autosomal recessive retinitis pigmentosa | Autosomal recessive cone-rod dystrophy
Journal Article