X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (19) 19
humans (17) 17
prom1 (15) 15
male (12) 12
female (11) 11
frameshift mutation (11) 11
ophthalmology (11) 11
mutation (10) 10
ac133 antigen (9) 9
adult (8) 8
cone-rod dystrophy (7) 7
dna mutational analysis (7) 7
phenotype (7) 7
research article (7) 7
retinitis pigmentosa (7) 7
retinitis-pigmentosa (7) 7
antigens, cd - genetics (6) 6
biochemistry & molecular biology (6) 6
eye diseases (6) 6
glycoproteins - genetics (6) 6
identification (6) 6
oncology (6) 6
pedigree (6) 6
peptides - genetics (6) 6
prom1 gene (6) 6
retinitis pigmentosa - genetics (6) 6
aged (5) 5
base sequence (5) 5
gene expression (5) 5
gene mutations (5) 5
genes (5) 5
genetics (5) 5
genetics & heredity (5) 5
macular degeneration - genetics (5) 5
analysis (4) 4
cancer (4) 4
cd133 (4) 4
cell biology (4) 4
disease (4) 4
dystrophy (4) 4
expression (4) 4
eye proteins - genetics (4) 4
family (4) 4
gene (4) 4
genetic aspects (4) 4
hospitals (4) 4
middle aged (4) 4
prevalence (4) 4
research (4) 4
stem cells (4) 4
stem-cells (4) 4
young adult (4) 4
amino acid sequence (3) 3
antigens, cd - metabolism (3) 3
apoptosis (3) 3
article (3) 3
cell lines (3) 3
crtc2 (3) 3
degeneration (3) 3
diagnosis (3) 3
electroretinography (3) 3
genes, dominant (3) 3
genetic predisposition to disease (3) 3
genetic structures (3) 3
glycoproteins - metabolism (3) 3
health aspects (3) 3
high-throughput nucleotide sequencing (3) 3
human (3) 3
lung cancer (3) 3
macular degeneration (3) 3
macular degeneration - congenital (3) 3
macular degeneration - diagnosis (3) 3
macular dystrophy (3) 3
medicine (3) 3
missense mutation (3) 3
molecular biology (3) 3
multidisciplinary sciences (3) 3
peptides - metabolism (3) 3
protein (3) 3
proteins (3) 3
retinal degeneration (3) 3
retinitis (3) 3
risk factors (3) 3
science (3) 3
tomography, optical coherence (3) 3
ac133 antigen - genetics (2) 2
adolescent (2) 2
alleles (2) 2
antigen (2) 2
asian continental ancestry group - genetics (2) 2
atp-binding cassette transporters - genetics (2) 2
biology and life sciences (2) 2
biomarkers, tumor - metabolism (2) 2
biomedicine (2) 2
cancer research (2) 2
cancer stem cell (2) 2
cancer stem cells (2) 2
carcinoma (2) 2
cell growth (2) 2
cell line, tumor (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal Article
by Wei, W and Zhang, CN
ANALYTICAL AND QUANTITATIVE CYTOPATHOLOGY AND HISTOPATHOLOGY, ISSN 0884-6812, 12/2017, Volume 39, Issue 6, pp. 311 - 316
OBJECTIVE: To elucidate the underlying disease causing mutations in patients from a consanguineous family with retinitis pigmentosa (RP), as well as to... 
optical coherence tomography | gene mutation | CANCER | targeted exome sequencing | CELL BIOLOGY | MERTK GENE | retinitis | retina | retinopathy | DYSTROPHY | DNA | retinitis pigmentosa | nyctalopia | PROM1
Journal Article
Journal Article
Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 3/2019, Volume 257, Issue 3, pp. 619 - 628
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 05/2019, Volume 60, Issue 6, pp. 2347 - 2356
PURPOSE. To define characteristic ocular features in a group of patients with autosomal recessive (AR) PROM1 cone-rod dystrophy (CRD). METHODS. Three males and... 
RETINAL DEGENERATION | PCDH21 | PHENOTYPE | CLINICAL CHARACTERISTICS | IDENTIFICATION | CDHR1 GENE | fundus autofluorescence | CDHR1 | electroretinogram | OPHTHALMOLOGY | cone-rod dystrophy | FRAMESHIFT MUTATION | PROM1 | RETINITIS-PIGMENTOSA | SEQUENCING REVEALS | PROGRESSION | Genetics
Journal Article
Journal Article
Autophagy, ISSN 1554-8627, 07/2014, Volume 10, Issue 7, pp. 1179 - 1192
Journal Article
Molecular Vision, ISSN 1090-0535, 04/2018, Volume 24, pp. 326 - 339
Purpose: The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy... 
ABCR ABCA4 | INHERITED RETINAL DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOLECULAR PATHOLOGY | STARGARDT DISEASE | MACULAR DYSTROPHY | OPHTHALMOLOGY | PROM1 GENE | FRAMESHIFT MUTATION | COPY-NUMBER VARIATIONS | CIRCULAR BINARY SEGMENTATION | DOMINANT RETINITIS-PIGMENTOSA
Journal Article
Journal Article