X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (27) 27
index medicus (25) 25
middle aged (20) 20
female (19) 19
male (19) 19
adult (18) 18
mutation (14) 14
aged (11) 11
life sciences (10) 10
dna mutational analysis (8) 8
genetics & heredity (8) 8
neurosciences (8) 8
ophthalmology (8) 8
disease (7) 7
expression (7) 7
eye proteins - genetics (7) 7
pedigree (7) 7
phenotype (7) 7
adolescent (6) 6
child (6) 6
eye diseases (6) 6
genetic aspects (6) 6
genetics (6) 6
prevalence (6) 6
young adult (6) 6
aged, 80 and over (5) 5
biochemistry & molecular biology (5) 5
clinical neurology (5) 5
gene (5) 5
genotype (5) 5
myotonic dystrophy (5) 5
myotonic dystrophy - genetics (5) 5
proteins (5) 5
retrospective studies (5) 5
tau (5) 5
age of onset (4) 4
alleles (4) 4
alzheimer's disease (4) 4
brain (4) 4
child, preschool (4) 4
diagnosis (4) 4
dystrophy (4) 4
exons (4) 4
france - epidemiology (4) 4
gene expression (4) 4
genes (4) 4
genetic structures (4) 4
macular dystrophy (4) 4
molecular sequence data (4) 4
movement disorders (4) 4
optical coherence tomography (4) 4
recessive retinitis-pigmentosa (4) 4
research (4) 4
risk factors (4) 4
sense organs (4) 4
stargardt disease (4) 4
tomography, optical coherence (4) 4
vitelliform macular dystrophy - genetics (4) 4
[sdv.gen]life sciences [q-bio]/genetics (3) 3
abca4 (3) 3
analysis (3) 3
article (3) 3
base sequence (3) 3
biochemistry, molecular biology (3) 3
cell line, tumor (3) 3
electrooculography (3) 3
electroretinography (3) 3
extracellular matrix proteins - genetics (3) 3
fundus autofluorescence (3) 3
gene frequency (3) 3
genetic association studies (3) 3
haplotypes (3) 3
human health and pathology (3) 3
molecular biology (3) 3
mutation, missense (3) 3
myotonic dystrophy - metabolism (3) 3
neurofibrillary degeneration (3) 3
neurology (3) 3
polymorphism, single nucleotide - genetics (3) 3
retinitis pigmentosa - diagnosis (3) 3
retinitis pigmentosa - genetics (3) 3
retinitis-pigmentosa (3) 3
rna-binding proteins - genetics (3) 3
splicing (3) 3
tau proteins - genetics (3) 3
tau proteins - metabolism (3) 3
variants (3) 3
visual acuity (3) 3
vitelliform macular dystrophy - physiopathology (3) 3
[ sdv.gen ] life sciences [q-bio]/genetics (2) 2
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (2) 2
[sdv.mhep.os]life sciences [q-bio]/human health and pathology/sensory organs (2) 2
alternative splicing (2) 2
amino acid sequence (2) 2
amyloids (2) 2
animals (2) 2
association (2) 2
benign hereditary chorea (2) 2
bestrophins (2) 2
binding (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Ophthalmic genetics, ISSN 1381-6810, 08/2019, pp. 1 - 4
: Posterior pole staphylomata (PSS) is an outward bulging of ocular wall, rarely reported in association with inherited retinal degenerations. : We report a... 
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, p. 12589
Alternative promoter usage is an important mechanism for transcriptome diversity and the regulation of gene expression. Indeed, this alternative usage may... 
PRESENILIN-2 GENE | METHYLATION | VARIANTS | MULTIDISCIPLINARY SCIENCES | FRAGMENT | TAU | CLEAVAGE | EXPRESSION | AGGREGATION | MODULATION | MAMMALIAN GENOMES
Journal Article
Ophthalmology, ISSN 0161-6420, 10/2018, Volume 125, Issue 10, pp. 1587 - 1596
To analyze the retinal structure in patients with X-linked retinoschisis (XLRS) using spectral-domain OCT and to correlate the morphologic findings with visual... 
OUTER SEGMENT LENGTH | VISUAL-ACUITY | CONGENITAL RETINOSCHISIS | PROGNOSTIC-FACTOR | OPTICAL COHERENCE TOMOGRAPHY | FUNDUS AUTOFLUORESCENCE | MULTIFOCAL ERG | OPHTHALMOLOGY | JUVENILE RETINOSCHISIS | RETINITIS-PIGMENTOSA | EPIRETINAL MEMBRANE SURGERY
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 1 - 10
Alternative promoter usage is an important mechanism for transcriptome diversity and the regulation of gene expression. Indeed, this alternative usage may... 
Transcription factors | Transcription | Neurodegenerative diseases | Genomes | Gene expression | Proteins | Tau protein | Neurodegeneration | Progressive supranuclear palsy | Isoforms | Paralysis | Localization | Growth factors
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 02/2019, Volume 14, Issue 1, pp. 42 - 10
Journal Article
Human Mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1749 - 1759
Purpose Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation‐scanning... 
smMIPs | Stargardt disease | next generation sequencing | ABCA4 | deep‐intronic variants | Splicing | Exons | Alleles | Insertion | Inversion | mRNA | Mutation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 571 - 578
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2013, Volume 50, Issue 10, pp. 704 - 714
Journal Article
Frontiers in Molecular Neuroscience, ISSN 1662-5099, 01/2014, Volume 6, p. 57
Myotonic dystrophy (DM) of type 1 and 2 (DM1 and DM2) are inherited autosomal dominant diseases caused by dynamic and unstable expanded microsatellite... 
Myotonic dystrophy | RNAopathy | Splicing | Tauopathy | Alzheimer's disease | Alzheimer’s disease | Myotonic Dystrophy
Journal Article