X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (49) 49
humans (45) 45
female (29) 29
ophthalmology (28) 28
male (26) 26
child (19) 19
child, preschool (17) 17
genetics & heredity (16) 16
mutation (16) 16
pediatrics (16) 16
infant (15) 15
eye diseases (12) 12
phenotype (12) 12
adolescent (11) 11
adult (11) 11
blindness (8) 8
infant, newborn (8) 8
sense organs (8) 8
children (7) 7
genetic aspects (7) 7
genetic structures (7) 7
genetics (7) 7
middle aged (7) 7
pedigree (7) 7
risk factors (7) 7
young adult (7) 7
dna mutational analysis (6) 6
genes (6) 6
genetic disorders (6) 6
abnormalities, multiple - genetics (5) 5
alleles (5) 5
analysis (5) 5
gestational age (5) 5
health aspects (5) 5
homozygote (5) 5
prospective studies (5) 5
protein (5) 5
research (5) 5
vision (5) 5
visual acuity - physiology (5) 5
abridged index medicus (4) 4
animals (4) 4
birth weight (4) 4
care and treatment (4) 4
case report (4) 4
chromosome deletion (4) 4
cystinosis (4) 4
diagnosis (4) 4
disease (4) 4
gene (4) 4
gene mutations (4) 4
genotype & phenotype (4) 4
infants (4) 4
magnetic resonance imaging (4) 4
medical imaging (4) 4
medicine & public health (4) 4
mice (4) 4
microphthalmia (4) 4
mutations (4) 4
patients (4) 4
report (4) 4
retina (4) 4
retinitis-pigmentosa (4) 4
retinopathy of prematurity (4) 4
treatment outcome (4) 4
acuity (3) 3
adults (3) 3
anophthalmia (3) 3
article (3) 3
atrophy (3) 3
belgium (3) 3
causes of (3) 3
cis-trans-isomerases - genetics (3) 3
clinical neurology (3) 3
comparative genomic hybridization (3) 3
consanguinity (3) 3
copy number (3) 3
cysteamine (3) 3
degeneration (3) 3
deletion (3) 3
deoxyribonucleic acid--dna (3) 3
dystrophy (3) 3
electroretinography (3) 3
exome (3) 3
expression (3) 3
eye abnormalities - genetics (3) 3
eye proteins - genetics (3) 3
families (3) 3
forkhead transcription factors - genetics (3) 3
gene therapy (3) 3
genes, dominant (3) 3
genetic research (3) 3
genetic testing (3) 3
genotype (3) 3
haploinsufficiency (3) 3
heterozygote (3) 3
homeodomain proteins - genetics (3) 3
leber congenital amaurosis (3) 3
leber congenital amaurosis - genetics (3) 3
medicine (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Case Reports in Ophthalmology, ISSN 1663-2699, 12/2018, Volume 9, Issue 3, pp. 504 - 509
We describe a 7-year-old girl who developed exudation nasally to the right optic disc due to retinal arteriovenous malformation. Fluorescein angiography,... 
Case Report | Optical coherence tomography angiography | Child | Retinal arteriovenous malformation
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 12/2018, Volume 96, Issue 8, pp. e1044 - e1046
Journal Article
GMS ophthalmology cases, 2019, Volume 9, p. Doc17
We describe the case of a one-year-old boy who presented at the emergency department with a sudden onset of fulminant edema of the right eyelid. He had been... 
Journal Article
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 08/2018, Volume 142, Issue 2, pp. 630 - 646
Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, growth retardation, cognitive delay, hypogammaglobulinemia, and,... 
B cells | RNA processing | Roifman syndrome | platelets | DEVELOPMENTAL DISORDER | HERMANSKY-PUDLAK-SYNDROME-1 HPS1 | PLATELET | DISORDER MOPD I | IMMUNOLOGY | BAFF-R | MINOR SPLICEOSOME | BIOGENESIS | ALLERGY | U4ATAC SNRNA | EXPRESSION | IMMUNODEFICIENCY | Retinal Diseases - genetics | Cell Proliferation | Humans | Child, Preschool | Infant | Protein Splicing - genetics | Blood Platelets - physiology | Cardiomyopathies - genetics | Mental Retardation, X-Linked - genetics | Osteochondrodysplasias - genetics | RNA, Small Nuclear - genetics | Mitogen-Activated Protein Kinase 1 - genetics | Cell Differentiation | Child | Cells, Cultured | B-Lymphocytes - physiology | Megakaryocytes - physiology | Signal Transduction - genetics | Whole Exome Sequencing | Cell Lineage | Pedigree | Adolescent | Immunologic Deficiency Syndromes - genetics | Precursor Cells, B-Lymphoid - physiology | Mitogen-Activated Protein Kinase 1 - metabolism | Flow cytometry | Growth rate | Genes | Cognitive ability | Hypogammaglobulinemia | snRNA | Defects | Gene sequencing | Dwarfism | Proteins | Genotype & phenotype | Tubulin | Blood platelets | Actin | Lymphocytes | Megakaryocytes | Thrombocytopenia | Dysplasia | Splicing | MAP kinase | Patients | Ribonucleic acids | Lymphocytes B | Granular materials | Protein kinase | Differentiation | Platelets | Binding sites
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 03/2018, Volume 187, pp. 158 - 166
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 321 - 330
Journal Article
Journal Article
Case Reports in Ophthalmology, ISSN 1663-2699, 01/2017, Volume 8, Issue 1, pp. 214 - 220
To report 3 cases of neurofibromatosis type 1 (NF1) with choroidal nodules associated with retinal microvascular changes imaged with optical coherence... 
Neurofibromatosis type 1 | Optical coherence tomography angiography | Choroidal nodules | Retinal microvascular changes | Hospitals | Medical imaging | Ischemia | Retina | Mutation | Ophthalmology | Patients | Veins & arteries
Journal Article
New England Journal of Medicine, ISSN 0028-4793, 05/2015, Volume 372, Issue 20, pp. 1887 - 1897
Journal Article
Human Mutation, ISSN 1059-7794, 10/2010, Volume 31, Issue 10, pp. E1709 - E1766
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 06/2012, Volume 171, Issue 6, pp. 887 - 893
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