X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
corneal dystrophies, hereditary - pathology (1122) 1122
humans (1106) 1106
index medicus (1086) 1086
male (671) 671
female (665) 665
adult (542) 542
middle aged (483) 483
corneal dystrophies, hereditary - genetics (478) 478
ophthalmology (467) 467
cornea - pathology (437) 437
aged (346) 346
pedigree (240) 240
corneal dystrophies, hereditary - surgery (227) 227
microscopy, electron (196) 196
adolescent (189) 189
child (173) 173
abridged index medicus (165) 165
corneal dystrophies, hereditary - metabolism (157) 157
cornea - ultrastructure (150) 150
cornea (145) 145
visual acuity (141) 141
mutation (136) 136
corneal transplantation (114) 114
corneal dystrophies, hereditary - diagnosis (112) 112
corneal dystrophies, hereditary - complications (107) 107
transforming growth factor beta - genetics (104) 104
keratoplasty, penetrating (101) 101
recurrence (99) 99
dna mutational analysis (96) 96
corneal dystrophy (90) 90
corneal opacity - pathology (87) 87
child, preschool (83) 83
cornea - metabolism (79) 79
phenotype (78) 78
polymerase chain reaction (78) 78
epithelium - pathology (77) 77
corneal stroma - pathology (74) 74
diagnosis, differential (74) 74
histocytochemistry (69) 69
aged, 80 and over (67) 67
extracellular matrix proteins - genetics (67) 67
descemet membrane - pathology (65) 65
corneal dystrophies, hereditary - etiology (64) 64
mutations (63) 63
extracellular matrix proteins (60) 60
amyloidosis - pathology (59) 59
endothelium, corneal - pathology (59) 59
microscopy, confocal (59) 59
biochemistry & molecular biology (57) 57
corneal dystrophies, hereditary (55) 55
dystrophy (55) 55
gene (55) 55
eye diseases (54) 54
animals (53) 53
follow-up studies (51) 51
syndrome (51) 51
epithelium (49) 49
corneal diseases - pathology (47) 47
corneal dystrophies, hereditary - classification (46) 46
epithelium, corneal - pathology (46) 46
point mutation (46) 46
collagen (45) 45
beta-ig-h3 (44) 44
cornea - surgery (44) 44
infant (44) 44
staining and labeling (44) 44
genetic aspects (43) 43
neoplasm proteins - genetics (42) 42
research article (41) 41
basement membrane - pathology (40) 40
endothelium - pathology (40) 40
photorefractive keratectomy (40) 40
amyloid - metabolism (39) 39
sense organs (39) 39
corneal diseases (38) 38
descemet membrane - ultrastructure (38) 38
microscopy, electron, scanning (38) 38
keratoconus - pathology (37) 37
mutation, missense (37) 37
retrospective studies (37) 37
transplantation, homologous (37) 37
base sequence (36) 36
epithelium - ultrastructure (36) 36
lasers, excimer (36) 36
protein (36) 36
kerato-epithelin mutations (35) 35
genes, dominant (34) 34
amyloidosis (33) 33
bigh3 gene (33) 33
endothelium (33) 33
family (33) 33
genotype (33) 33
immunohistochemistry (33) 33
keratoconus (33) 33
amyloid (32) 32
corneal dystrophies, hereditary - physiopathology (32) 32
granular dystrophy (32) 32
tomography, optical coherence (32) 32
young adult (32) 32
exons (31) 31
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (885) 885
French (90) 90
German (90) 90
Japanese (28) 28
Russian (12) 12
Chinese (9) 9
Polish (6) 6
Hungarian (3) 3
Italian (3) 3
Romanian (3) 3
Czech (2) 2
Dutch (2) 2
Finnish (2) 2
Spanish (2) 2
Danish (1) 1
Portuguese (1) 1
Slovak (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Cornea, ISSN 0277-3740, 02/2015, Volume 34, Issue 2, pp. 117 - 159
PURPOSE:To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information.... 
Fleck corneal dystrophy | Cornea | Epithelial and subepithelial dystrophies | Descemetmembrane | Posterior amorphous corneal dystrophy | Confocal microscopy | Cornea pathology | Thiel-Behnke corneal dystrophy | Lattice corneal dystrophy | Macular corneal dystrophy | Stromal dystrophies | Hereditary disease | Epithelial basement membranedystrophy | Pre-Descemet corneal dystrophy | Histopathology | Keratoconus | Congenital corneal endothelial dystrophy and X-linked endothelialdystrophy | Bowman membrane | Subepithelialmucinous corneal dystrophy | Endothelial dystrophies | Genetics | Schnyder corneal dystrophy | Gelatinousdrop-like corneal dystrophy | Fuchsendothelial corneal dystrophy | Epithelial-stromal TGFBI dystrophies | Lisch epithelial corneal dystrophy | Stroma | Histology | Meesmann dystrophy | Epithelium | Endothelium | Genetic disease | Epithelial recurrent erosion dystrophies | Posteror polymorphous corneal dystrophy | Centralcloudy dystrophy of François | Granular corneal dystrophy type 1 | Granular corneal dystrophy type 2 | TGFBI | Reis-Bücklers corneal dystrophy | Congenital stromal corneal dystrophy | Cornea dystrophy | cornea | endothelial dystrophies | histology | epithelial basement membrane dystrophy | genetic disease | epithelial and subepithelial dystrophies | central cloudy dystrophy of Francois | macular corneal dystrophy | subepithelial mucinous corneal dystrophy | cornea pathology | stroma | FRANCOIS | congenital corneal endothelial dystrophy and X-linked endothelial dystrophy | posteror polymorphous corneal dystrophy | DISEASE | epithelium | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy | pre-Descemet corneal dystrophy | histopathology | INDIVIDUAL PHENOTYPIC VARIANCES | FAMILY | epithelial recurrent erosion dystrophies | granular corneal dystrophy type 1 | granular corneal dystrophy type 2 | genetics | cornea dystrophy | UBIAD1 GENE | MUTATIONS | Descemet membrane | endothelium | hereditary disease | epithelial-stromal TGFBI dystrophies | keratoconus | posterior amorphous corneal dystrophy | congenital stromal corneal dystrophy | stromal dystrophies | fleck corneal dystrophy | confocal microscopy | gelatinous drop-like corneal dystrophy | EDEMA | OPHTHALMOLOGY | LINKAGE | Corneal Dystrophies, Hereditary - genetics | Terminology as Topic | International Classification of Diseases | Corneal Dystrophies, Hereditary - classification | Corneal Dystrophies, Hereditary - pathology | Humans | Index Medicus
Journal Article
Cornea, ISSN 0277-3740, 12/2017, Volume 36, Issue 12, pp. 1562 - 1566
PURPOSE:Posterior amorphous corneal dystrophy (PACD) is a rare disorder characterized by sheet-like opacification of the posterior corneal stroma, corneal... 
Corneal dystrophy | Corneal ectasia | Posterior amorphous corneal dystrophy | Keratoglobus | keratoglobus | OPHTHALMOLOGY | corneal dystrophy | corneal ectasia | posterior amorphous corneal dystrophy | Female | Corneal Dystrophies, Hereditary - pathology | Corneal Diseases - pathology | Dilatation, Pathologic | Humans | Infant, Newborn | Index Medicus
Journal Article
Structure, ISSN 0969-2126, 11/2017, Volume 25, Issue 11, pp. 1740 - 1750.e2
A major cause of visual impairment, corneal dystrophies result from accumulation of protein deposits in the cornea. One of the proteins involved is... 
extracellular matrix protein | cysteine-rich CROPT domain | multi-domain protein | pathological mutants | crystal structure | corneal dystrophy | fasciclin FAS1 domain | GENOTYPE-PHENOTYPE CORRELATIONS | KERATO-EPITHELIN MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | AMYLOID DEPOSITS | STRUCTURE ALIGNMENT | CELL BIOLOGY | BIOPHYSICS | STRUCTURE VALIDATION | MACROMOLECULAR CRYSTALLOGRAPHY | CHINESE PATIENTS | BIGH3 GENE-MUTATIONS | STRUCTURE PREDICTION | GRANULAR DYSTROPHY | Protein Aggregates | Humans | Integrins - chemistry | Corneal Dystrophies, Hereditary - genetics | Integrins - genetics | Crystallography, X-Ray | Transforming Growth Factor beta - chemistry | Integrins - metabolism | Corneal Dystrophies, Hereditary - pathology | Cloning, Molecular | HEK293 Cells | Protein Interaction Domains and Motifs | Binding Sites | Protein Aggregation, Pathological - genetics | Extracellular Matrix Proteins - metabolism | Recombinant Proteins - metabolism | Amino Acid Sequence | Protein Conformation, alpha-Helical | Extracellular Matrix Proteins - chemistry | Gene Expression | Genetic Vectors - chemistry | Extracellular Matrix Proteins - genetics | Genetic Vectors - metabolism | Models, Molecular | Recombinant Proteins - chemistry | Recombinant Proteins - genetics | Corneal Dystrophies, Hereditary - metabolism | Sequence Homology, Amino Acid | Sequence Alignment | Transforming Growth Factor beta - genetics | Protein Conformation, beta-Strand | Protein Binding | Mutation | Transforming Growth Factor beta - metabolism | Protein Aggregation, Pathological - metabolism | Index Medicus
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 02/2012, Volume 287, Issue 7, pp. 5059 - 5069
Compromised clearance of all-trans-retinal (atRAL), a component of the retinoid cycle, increases the susceptibility of mouse retina to acute light-induced... 
VISUAL CYCLE | OXIDATIVE STRESS | ACTIVATED PROTEIN-KINASE | 5-HT1A RECEPTORS | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHOSPHOLIPASE-C | IN-VIVO | RECESSIVE RETINITIS-PIGMENTOSA | GENE ABCR | BINDING-PROPERTIES | NEUTROPHIL NADPH-OXIDASE | Reactive Oxygen Species - metabolism | Receptor, Serotonin, 5-HT2A - genetics | Calcium - metabolism | Humans | NADPH Oxidases - metabolism | Corneal Dystrophies, Hereditary - genetics | Type C Phospholipases - metabolism | Retinaldehyde - metabolism | Alcohol Oxidoreductases - genetics | ATP-Binding Cassette Transporters - genetics | Corneal Dystrophies, Hereditary - pathology | ATP-Binding Cassette Transporters - metabolism | NADPH Oxidases - genetics | Signal Transduction | Light - adverse effects | Receptor, Muscarinic M3 - metabolism | Alcohol Oxidoreductases - metabolism | Corneal Dystrophies, Hereditary - metabolism | Receptor, Muscarinic M3 - genetics | Serotonin 5-HT2 Receptor Antagonists - pharmacology | Mice, Knockout | Macular Degeneration - metabolism | Animals | Macular Degeneration - genetics | Type C Phospholipases - genetics | Mice | Inositol 1,4,5-Trisphosphate - genetics | Photoreceptor Cells, Vertebrate - metabolism | Receptor, Serotonin, 5-HT2A - metabolism | Inositol 1,4,5-Trisphosphate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Macular Degeneration - pathology | Index Medicus
Journal Article
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 2014, Volume 121, Issue 6, pp. 1174 - 1184
Journal Article
by Iglesias, Adriana I and Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and Höhn, René and Springelkamp, Henriët and Cuellar-Partida, Gabriel and Gharahkhani, Puya and Bailey, Jessica N. Cooke and Willoughby, Colin E and Li, Xiaohui and Yazar, Seyhan and Nag, Abhishek and Khawaja, Anthony P and Polašek, Ozren and Siscovick, David and Mitchell, Paul and Tham, Yih Chung and Haines, Jonathan L and Kearns, Lisa S and Hayward, Caroline and Shi, Yuan and Van Leeuwen, Elisabeth M and Taylor, Kent D and Wang, Jie Jin and Rochtchina, Elena and Attia, John and Scott, Rodney and Holliday, Elizabeth G and Baird, Paul N and Xie, Jing and Inouye, Michael and Viswanathan, Ananth and Sim, Xueling and Bonnemaijer, Pieter and Rotter, Jerome I and Martin, Nicholas G and Zeller, Tanja and Mills, Richard A and Staffieri, Sandra E and Jonas, Jost B and Schmidtmann, Irene and Boutin, Thibaud and Kang, Jae H and Lucas, Sionne E. M and Wong, Tien Yin and Beutel, Manfred E and Wilson, James F and Allingham, R. Rand and Brilliant, Murray H and Budenz, Donald L and Christen, William G and Fingert, John and Friedman, David S and Gaasterland, Douglas and Gaasterland, Terry and Hauser, Michael A and Kraft, Peter and Lee, Richard K and Lichter, Paul R and Liu, Yutao and Loomis, Stephanie J and Moroi, Sayoko E and Pericak-Vance, Margaret A and Realini, Anthony and Richards, Julia E and Schuman, Joel S and Scott, William K and Singh, Kuldev and Sit, Arthur J and Vollrath, Douglas and Weinreb, Robert N and Wollstein, Gadi and Zack, Donald J and Zhang, Kang and Donnelly, Peter and Barroso, Ines and Blackwell, Jenefer M and Bramon, Elvira and Brown, Matthew A and Casas, Juan P and Corvin, Aiden and Deloukas, Panos and Duncanson, Audrey and Jankowski, Janusz and Markus, Hugh S and Mathew, Christopher G and Palmer, Colin N. A and Plomin, Robert and Rautanen, Anna and Sawcer, Stephen J and Trembath, Richard C and Wood, Nicholas W and Spencer, Chris C. A and Band, Gavin and Bellenguez, Céline and Freeman, Colin and Hellenthal, Garrett and Giannoulatou, Eleni and Pirinen, Matti and ... and Blue Mountains Eye Study-GWAS Grp and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consor and Blue Mountains Eye Study—GWAS group and Wellcome Trust Case Control Consortium 2 (WTCCC2)
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 11
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide... 
DECORIN | CHROMATIN STATES | POLYMORPHISMS | RISK-FACTOR | MULTIDISCIPLINARY SCIENCES | MOUSE | GENE-EXPRESSION | MUTATIONS | HERITABILITY | LUMICAN | KERATOCONUS | Glaucoma | Cornea | Genes | Myopia | Association analysis | Genomes | Gene expression | Tissues | Connective tissue | Keratoconus | Collagen | Eye diseases | Extracellular matrix | Lumican - metabolism | Glaucoma, Open-Angle - genetics | Humans | Corneal Diseases - metabolism | Corneal Dystrophies, Hereditary - ethnology | Corneal Diseases - genetics | Ehlers-Danlos Syndrome - genetics | Corneal Dystrophies, Hereditary - pathology | Loeys-Dietz Syndrome - metabolism | Mendelian Randomization Analysis | Fibrillin-1 - metabolism | Cornea - pathology | Keratoconus - pathology | Corneal Diseases - pathology | Decorin - genetics | Gene Expression | Eye Diseases, Hereditary - pathology | Lumican - genetics | ADAMTS Proteins - metabolism | Proteoglycans - metabolism | Ehlers-Danlos Syndrome - ethnology | European Continental Ancestry Group | Myopia - pathology | Cornea - metabolism | Myopia - ethnology | Loeys-Dietz Syndrome - pathology | Corneal Diseases - ethnology | Marfan Syndrome - metabolism | Marfan Syndrome - pathology | Cornea - abnormalities | Quantitative Trait Loci | Proteoglycans - genetics | ADAMTS Proteins - genetics | Transforming Growth Factor beta2 - metabolism | Corneal Dystrophies, Hereditary - genetics | Glaucoma, Open-Angle - pathology | Keratoconus - metabolism | Loeys-Dietz Syndrome - ethnology | Glaucoma, Open-Angle - ethnology | Myopia - metabolism | Ehlers-Danlos Syndrome - pathology | Marfan Syndrome - ethnology | Keratoconus - genetics | Glaucoma, Open-Angle - metabolism | Fibrillin-1 - genetics | Eye Diseases, Hereditary - ethnology | Genome-Wide Association Study | Quantitative Trait, Heritable | Corneal Dystrophies, Hereditary - metabolism | Marfan Syndrome - genetics | Eye Diseases, Hereditary - genetics | Myopia - genetics | Asian Continental Ancestry Group | Keratoconus - ethnology | Ehlers-Danlos Syndrome - metabolism | Loeys-Dietz Syndrome - genetics | Polymorphism, Single Nucleotide | Transforming Growth Factor beta2 - genetics | Genome, Human | Decorin - metabolism | Eye Diseases, Hereditary - metabolism | Index Medicus
Journal Article