X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (10) 10
index medicus (9) 9
adult (8) 8
female (7) 7
ophthalmology (7) 7
male (6) 6
allergy and immunology (4) 4
child (4) 4
eye proteins - genetics (4) 4
middle aged (4) 4
protein (4) 4
retinitis pigmentosa - genetics (4) 4
young adult (4) 4
adolescent (3) 3
disease (3) 3
dna mutational analysis (3) 3
electroretinography (3) 3
gene (3) 3
genetic aspects (3) 3
genetics (3) 3
identification (3) 3
medicine (3) 3
mutation (3) 3
mutation, missense (3) 3
pedigree (3) 3
phenotype (3) 3
retinitis pigmentosa - diagnosis (3) 3
retinitis-pigmentosa (3) 3
spain (3) 3
aged (2) 2
clinical neurology (2) 2
dna (2) 2
european continental ancestry group - genetics (2) 2
gastroenterology & hepatology (2) 2
gene expression (2) 2
genetic association studies (2) 2
genetic disorders (2) 2
genetics & heredity (2) 2
genome-wide association study (2) 2
genomics (2) 2
genotype (2) 2
leber congenital amaurosis - genetics (2) 2
magnetic resonance imaging (2) 2
medical genetics (2) 2
mutations (2) 2
polymorphism, single nucleotide (2) 2
prevalence (2) 2
research (2) 2
retina (2) 2
retinitis pigmentosa (2) 2
sensitivity and specificity (2) 2
tomography, optical coherence (2) 2
visual acuity (2) 2
18 genes (1) 1
a1 allele (1) 1
abca4 gene (1) 1
accuracy (1) 1
adjuvant treatment (1) 1
adrp (1) 1
age differences (1) 1
age of onset (1) 1
age-of-onset (1) 1
aged, 80 and over (1) 1
arachidonic acid (1) 1
article (1) 1
artifacts (1) 1
association (1) 1
availability (1) 1
bardet-biedl-syndrome (1) 1
base sequence (1) 1
biochemistry & molecular biology (1) 1
biology and life sciences (1) 1
blindness (1) 1
bowel-disease (1) 1
cancer (1) 1
carrier proteins - genetics (1) 1
catechol o-methyltransferase - genetics (1) 1
cells (1) 1
cep290 (1) 1
child, preschool (1) 1
chip (1) 1
chromosomes, human, pair 14 - genetics (1) 1
chromosomes, human, pair 6 - genetics (1) 1
chronic progressive external ophthalmoplegia (1) 1
ciliary cep41 gene (1) 1
ciliary length (1) 1
ciliopathies (1) 1
codon, nonsense (1) 1
colectomy - methods (1) 1
colon (1) 1
computed-tomography (1) 1
congenital, hereditary, and neonatal diseases and abnormalities (1) 1
consanguinity (1) 1
conscious sedation (1) 1
contrast media (1) 1
crohn disease - diagnosis (1) 1
crohn disease - physiopathology (1) 1
crohn disease - surgery (1) 1
deafness (1) 1
degeneration (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Brain, ISSN 0006-8950, 2/2008, Volume 131, Issue 2, pp. 338 - 351
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic... 
Chronic progressive external ophthalmoplegia | Dominant optic atrophy | Mitochondrial encephalomyopathy | Mitochondria | mtDNA multiple deletions | PROTEIN | mitochondria | NEUROSCIENCES | chronic progressive external ophthalmoplegia | R445H MUTATION | CLINICAL NEUROLOGY | mitochondrial encephalomyopathy | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY | HEARING-LOSS | GENE | DISEASE | dominant optic atrophy | DEAFNESS | FISSION | DELETIONS | Ophthalmoplegia, Chronic Progressive External - pathology | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Mutation, Missense | DNA Mutational Analysis - methods | Ophthalmoplegia, Chronic Progressive External - genetics | DNA, Mitochondrial - genetics | Base Sequence | Muscle, Skeletal - chemistry | Adult | Female | Optic Atrophy, Autosomal Dominant - pathology | Child | Muscle, Skeletal - ultrastructure | Models, Molecular | Fibroblasts - pathology | Mitochondrial Myopathies - pathology | Syndrome | Magnetic Resonance Imaging | Point Mutation | Mitochondrial Myopathies - genetics | GTP Phosphohydrolases - genetics | Pedigree | Optic Atrophy, Autosomal Dominant - genetics | Aged | GTP Phosphohydrolases | Neurons and Cognition | DNA, Mitochondrial | Life Sciences | DNA Mutational Analysis | Fibroblasts | Optic Atrophy, Autosomal Dominant | Mitochondrial Myopathies | Ophthalmoplegia, Chronic Progressive External | Muscle, Skeletal
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 6, pp. 1319 - 1329
RAX2 encodes a homeobox-containing transcription factor, in which four monoallelic pathogenic variants have been described in autosomal dominant cone-dominated... 
retinitis pigmentosa | homeobox-containing transcription factor | loss of function | novel ARRP gene | RAX2
Journal Article
Neurogenetics, ISSN 1364-6745, 2013, Volume 14, Issue 3-4, pp. 173 - 179
Journal Article