X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (91) 91
male (62) 62
female (59) 59
adult (37) 37
pedigree (34) 34
child (32) 32
infant (26) 26
middle aged (24) 24
adolescent (23) 23
ophthalmology (23) 23
child, preschool (21) 21
visual acuity (16) 16
aged (15) 15
genetics & heredity (14) 14
syndrome (14) 14
fundus oculi (13) 13
genes, dominant (12) 12
dna mutational analysis (10) 10
genetic linkage (10) 10
chromosome mapping (9) 9
infant, newborn (9) 9
mutation (9) 9
pigment epithelium of eye - ultrastructure (9) 9
polymerase chain reaction (8) 8
research article (8) 8
blindness - congenital (7) 7
genotype (7) 7
blindness - genetics (6) 6
electroretinography (6) 6
follow-up studies (6) 6
gene (6) 6
marfan syndrome - complications (6) 6
retinal degeneration - genetics (6) 6
cataract - congenital (5) 5
eye - ultrastructure (5) 5
eye diseases - pathology (5) 5
genes (5) 5
genetic markers (5) 5
lod score (5) 5
phenotype (5) 5
retinal degeneration - complications (5) 5
retinal degeneration - pathology (5) 5
x chromosome (5) 5
cataract - genetics (4) 4
chromosome deletion (4) 4
cornea - abnormalities (4) 4
cornea - ultrastructure (4) 4
diagnosis (4) 4
dna - analysis (4) 4
eye diseases - complications (4) 4
eye proteins - genetics (4) 4
fluorescein angiography (4) 4
genetic aspects (4) 4
genetics (4) 4
linkage (4) 4
molecular sequence data (4) 4
mutations (4) 4
optic atrophies, hereditary - genetics (4) 4
physiological aspects (4) 4
pigment epithelium of eye - pathology (4) 4
polymorphism, restriction fragment length (4) 4
pregnancy (4) 4
prospective studies (4) 4
restriction mapping (4) 4
retina - pathology (4) 4
retinitis-pigmentosa (4) 4
risk factors (4) 4
abnormalities, multiple - pathology (3) 3
adenomatous polyposis coli - complications (3) 3
aged, 80 and over (3) 3
alleles (3) 3
base sequence (3) 3
cells, cultured (3) 3
chromosome disorders (3) 3
collagen - genetics (3) 3
consanguinity (3) 3
cornea - pathology (3) 3
corneal dystrophies, hereditary - genetics (3) 3
diagnosis, differential (3) 3
disease (3) 3
exons (3) 3
eye diseases - etiology (3) 3
frameshift mutation (3) 3
gardner syndrome - complications (3) 3
gene mutations (3) 3
leber congenital amaurosis (3) 3
microscopy, electron (3) 3
microscopy, electron, scanning (3) 3
mucopolysaccharidoses - complications (3) 3
mutation - genetics (3) 3
prevalence (3) 3
prognosis (3) 3
research (3) 3
retinitis pigmentosa - complications (3) 3
retinitis pigmentosa - genetics (3) 3
united states (3) 3
adenomatous polyposis coli - diagnosis (2) 2
animals (2) 2
astigmatism (2) 2
astigmatism - etiology (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Genetics, ISSN 1061-4036, 2007, Volume 39, Issue 7, pp. 889 - 895
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 1992, Volume 99, Issue 2, pp. 241 - 245
The authors studied 35 patients with Leber's congenital amaurosis and assessed visual acuity, fundus appearance, and systemic findings. The patients were... 
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 1993, Volume 115, Issue 3, pp. 360 - 367
We examined 25 patients from three pedigrees with dominant optic atrophy (Kjer type). Follow-up on 20 patients ranged from five to 40 years (mean, 16 years;... 
OPHTHALMOLOGY | Prognosis | Follow-Up Studies | Humans | Middle Aged | Male | Vision Disorders - physiopathology | Pedigree | Adolescent | Adult | Female | Aged | Optic Atrophies, Hereditary - physiopathology | Child | Visual Acuity - physiology
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 2001, Volume 22, Issue 4, pp. 241 - 248
Purpose: To describe a family with X-linked congenital nystagmus and identify the genetic interval within which the gene is located. Methods and design:... 
X-linked | Congenital | Gene | Nystagmus | Exons | Humans | European Continental Ancestry Group | Male | Chromosome Mapping | Nystagmus, Congenital - genetics | DNA Primers - chemistry | Visual Acuity | Lod Score | DNA - analysis | Pedigree | Age of Onset | Polymerase Chain Reaction | Female | X Chromosome - genetics | Microsatellite Repeats | Genetic Linkage
Journal Article
Retina, ISSN 0275-004X, 2000, Volume 20, Issue 4, pp. 358 - 363
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 1990, Volume 97, Issue 6, pp. 798 - 809
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 1999, Volume 135, Issue 4, pp. 513 - 513
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 1994, Volume 117, Issue 5, pp. 632 - 635
We studied 573 patients with the Marfan syndrome for the presence of ocular misalignment, refractive errors, and amblyopia. A total of 110 patients (19.2%) had... 
OPHTHALMOLOGY | AMBLYOPIA | THERAPY | Strabismus - etiology | Lens Subluxation - etiology | Amblyopia - etiology | Prevalence | Humans | Middle Aged | Child, Preschool | Male | Lenses, Intraocular | Refractive Errors - etiology | Aphakia - etiology | Adolescent | Adult | Female | Aged | Marfan Syndrome - complications | Child
Journal Article
Ophthalmologica, ISSN 0030-3755, 1995, Volume 209, Issue 3, pp. 136 - 140
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.