X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (170) 170
ophthalmology (141) 141
peripherins (98) 98
female (97) 97
male (96) 96
mutation (94) 94
retinal degeneration (94) 94
peripherin/rds (91) 91
peripherin/rds gene (87) 87
intermediate filament proteins - genetics (82) 82
index medicus (78) 78
animals (77) 77
pedigree (76) 76
adult (71) 71
middle aged (71) 71
nerve tissue proteins - genetics (68) 68
retinitis pigmentosa (63) 63
eye proteins - genetics (62) 62
retinitis-pigmentosa (62) 62
retinal degeneration - genetics (61) 61
dominant retinitis-pigmentosa (59) 59
macular dystrophy (57) 57
aged (56) 56
retinitis pigmentosa - genetics (55) 55
electroretinography (53) 53
genetics & heredity (51) 51
biochemistry & molecular biology (50) 50
phenotype (49) 49
eye diseases (47) 47
membrane glycoproteins - genetics (47) 47
mice (46) 46
pattern dystrophy (45) 45
sense organs (45) 45
membrane glycoproteins (43) 43
macular degeneration - genetics (38) 38
point mutation (38) 38
degeneration (37) 37
dna mutational analysis (36) 36
rds gene (35) 35
retina (35) 35
rod photoreceptors (33) 33
cone-rod dystrophy (32) 32
fluorescein angiography (32) 32
mutations (32) 32
peripherin-rds gene (31) 31
adolescent (30) 30
degeneration slow rds (30) 30
rds (30) 30
transgenic mice (30) 30
polymerase chain reaction (28) 28
article (27) 27
genetic aspects (27) 27
genetic structures (27) 27
peripherin (27) 27
localization (26) 26
molecular sequence data (26) 26
photoreceptor (26) 26
photoreceptor peripherin/rds (26) 26
rhodopsin (26) 26
gene (25) 25
genotype (24) 24
membrane proteins - genetics (24) 24
amino acid sequence (23) 23
fundus oculi (23) 23
genes, dominant (23) 23
rhodopsin gene (23) 23
deletion (22) 22
genes (22) 22
intermediate filament proteins - metabolism (22) 22
research (22) 22
retinal degeneration - physiopathology (22) 22
nerve tissue proteins - metabolism (21) 21
aged, 80 and over (20) 20
retinal degeneration - pathology (20) 20
base sequence (19) 19
degeneration slow gene (19) 19
genetics (19) 19
macular degeneration (19) 19
neurosciences (19) 19
rhodopsin - genetics (19) 19
visual acuity (19) 19
child (18) 18
disk membrane (18) 18
eye proteins - metabolism (18) 18
family (18) 18
mice, transgenic (18) 18
morphogenesis (18) 18
nerve tissue proteins (18) 18
photoreceptors (18) 18
cone (17) 17
retinal degeneration - metabolism (17) 17
disk membranes (16) 16
dystrophy (16) 16
membrane glycoproteins - metabolism (16) 16
rds mutant mice (16) 16
macular degeneration - pathology (15) 15
medicine, research & experimental (15) 15
peripherins - genetics (15) 15
retinal rod photoreceptor cells - metabolism (15) 15
gene mutations (14) 14
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 04/2019, Volume 236, Issue 4, pp. 523 - 525
Journal Article
Retina, ISSN 0275-004X, 02/2018, Volume 38, Issue 2, pp. 237 - 244
Purpose: To quantify the foveal avascular zone area at superficial capillary plexus (SCP) and deep capillary plexus (DCP) and the global, parafoveal, and... 
ImageJ | FAZ area | pattern dystrophy | optical coherence tomography angiography | adult-onset foveomacular vitelliform dystrophy | vessel density | OPHTHALMOLOGY | MUTATIONS | PIGMENT EPITHELIAL DYSTROPHY | CHOROIDAL NEOVASCULARIZATION | PERIPHERIN/RDS GENE
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2019, Volume 28, Issue 3, pp. 459 - 475
Abstract The retinal disease gene peripherin 2 (PRPH2) is essential for the formation of photoreceptor outer segments (OSs), where it functions in oligomers... 
RETINAL DEGENERATION | PHOTORECEPTOR PERIPHERIN/RDS | MEMBRANE CURVATURE GENERATION | ROD PHOTORECEPTORS | AMPHIPATHIC HELIX | C-TERMINUS | RDS MUTANT MICE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | DISK MEMBRANES | CONE | ROM-1
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2018, Volume 27, Issue 20, pp. 3507 - 3518
Abstract Mutations in peripherin 2 (PRPH2, also known as Rds), a tetraspanin protein found in photoreceptor outer segments (OSs), cause retinal degeneration... 
RDS | TRANSLOCATION | MEMBRANE CURVATURE GENERATION | COMPLEX | AMPHIPATHIC HELIX | CONE-ROD DYSTROPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | R172W MUTATION | PERIPHERIN/RDS CAUSES | TRANSGENIC MICE | DEGENERATION
Journal Article
European Journal of Ophthalmology, ISSN 1120-6721, 11/2017, Volume 27, Issue 6, pp. 791 - 796
Purpose: To identify disease-causing mutations in a Chinese patient with retinitis pigmentosa (RP). Methods: A detailed clinical examination was performed on... 
Targeted next-generation sequencing | Retinitis pigmentosa | PRPF31 | GENES | ROM1 | OPHTHALMOLOGY | PERIPHERIN/RDS | FAMILY
Journal Article
Ophthalmic Surgery Lasers and Imaging Retina, ISSN 2325-8160, 12/2016, Volume 47, Issue 12, pp. 1115 - 1126
BACKGROUND AND OBJECTIVE: To report the clinical features of Japanese patients at Stage 1 and 2 of central areolar choroidal dystrophy (CACD). PATIENTS AND... 
SURGERY | MACULAR DYSTROPHY | OPHTHALMOLOGY | PERIPHERIN-RDS GENE | CONE
Journal Article
Cold Spring Harbor Perspectives in Medicine, ISSN 2157-1422, 10/2015, Volume 5, Issue 10, p. a017129
Journal Article
Journal Article
Seminars in Cell and Developmental Biology, ISSN 1084-9521, 11/2018, Volume 83, pp. 51 - 58
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 05/2018, Volume 39, Issue 3, pp. 357 - 365
Background: It is known that PRPH2 variants appear to be rare causes of retinitis pigmentosa (RP) in the Japanese population. The purpose of this study was to... 
Autosomal dominant | retinitis pigmentosa | mutation | haplotype | PRPH2 | PERIPHERIN-RDS GENE | POINT MUTATION | FAMILY | DYSTROPHY | GENETICS & HEREDITY | OPHTHALMOLOGY | R172W MUTATION | ROM-1
Journal Article
Journal Article
Journal Article