X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (423) 423
Book Review (151) 151
Book / eBook (150) 150
Publication (68) 68
Book Chapter (8) 8
Newspaper Article (6) 6
Conference Proceeding (1) 1
Trade Publication Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (356) 356
humans (311) 311
animals (172) 172
male (129) 129
ophthalmology (123) 123
female (119) 119
congenital, hereditary, and neonatal diseases and abnormalities (105) 105
abnormalities (99) 99
child (97) 97
mutation (92) 92
genetic aspects (88) 88
infant (86) 86
child, preschool (82) 82
diseases (80) 80
congenital abnormalities (71) 71
genetics (70) 70
genetic disorders (66) 66
infant, newborn (65) 65
adult (64) 64
mice (63) 63
genetics & heredity (57) 57
abnormalities, human (56) 56
musculoskeletal diseases (56) 56
pediatrics (51) 51
article (50) 50
eye diseases (50) 50
adolescent (47) 47
congenital diseases (47) 47
medicine (47) 47
diagnosis (44) 44
pathology (44) 44
proteins (44) 44
cell biology (42) 42
abridged index medicus (41) 41
disease (39) 39
genes (38) 38
glaucoma (38) 38
muscular dystrophy (38) 38
musculoskeletal system (38) 38
biochemistry & molecular biology (37) 37
cornea (37) 37
middle aged (37) 37
research (37) 37
analysis (36) 36
surgery (36) 36
corneal dystrophies, hereditary - genetics (35) 35
health aspects (35) 35
in infancy & childhood (35) 35
malformations (35) 35
medicine, research & experimental (35) 35
plants (35) 35
sense organs (35) 35
fetus (34) 34
pedigree (34) 34
phenotype (34) 34
congenital hereditary endothelial dystrophy (33) 33
care and treatment (32) 32
gene therapy (32) 32
children (31) 31
endothelium (31) 31
gene expression (31) 31
research article (31) 31
eye (30) 30
gene (30) 30
rodents (30) 30
congenital (29) 29
disease models, animal (29) 29
dystrophy (29) 29
dystrophin (28) 28
genetic structures (28) 28
leber congenital amaurosis (28) 28
multidisciplinary sciences (28) 28
genetics, medical (27) 27
medical genetics (27) 27
syndrome (27) 27
corneal dystrophies, hereditary - pathology (26) 26
expression (26) 26
heart (26) 26
infants (25) 25
neurosciences (25) 25
review (25) 25
biology (24) 24
cells, cultured (24) 24
embryology (24) 24
patients (24) 24
physiology (24) 24
risk factors (24) 24
science (24) 24
deformities (23) 23
heart defects, congenital (23) 23
mutations (23) 23
physiological aspects (23) 23
diagnosis, differential (22) 22
embryology, human (22) 22
heart diseases (22) 22
hereditary diseases (22) 22
studies (22) 22
visual acuity (22) 22
corneal opacity - congenital (21) 21
etiology (21) 21
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (130) 130
UTL at Downsview - May be requested (13) 13
Holland Bloorview Kids Rehabilitation - Stacks (11) 11
Collection Dvlpm't (Acquisitions) - Closed Orders (6) 6
UofT at Mississauga - Stacks (6) 6
Collection Dvlpm't (Acquisitions) - Vendor file (5) 5
Lakeridge Health Sciences - Oshawa (4) 4
St. Michael's Hospital - Stacks (4) 4
Dentistry (Harry R Abbott) - Withdrawn (3) 3
Gerstein Science - Reference (3) 3
Scarborough Hospital - General (3) 3
Sunnybrook Health Sciences Centre - Sunnybrook Stacks (3) 3
Dentistry (Harry R Abbott) - May be requested in 6-10 wks (2) 2
Dentistry (Harry R Abbott) - Stacks (2) 2
Holland Bloorview Kids Rehabilitation - Reference (2) 2
St Josephs Health Centre - Stacks (2) 2
St. Michael's College (John M. Kelly) - 2nd Floor (2) 2
Toronto East General Hospital - Stacks (2) 2
Collection Dvlpm't (Acquisitions) - Stacks (1) 1
Credit Valley Hospital - Reference (1) 1
Credit Valley Hospital - Reserve desk (1) 1
Credit Valley Hospital - Stacks (1) 1
Humber River Regional Hospital - Finch Stacks (1) 1
OISE - Stacks (1) 1
Providence Healthcare - Reference (1) 1
Scarborough Hospital - Birchmount (1) 1
Trillium Health Centre - Stacks (1) 1
UofT at Mississauga - Oversize (1) 1
UofT at Mississauga - Reference (1) 1
UofT at Scarborough - Stacks (1) 1
Victoria University E.J. Pratt - Oversize (1) 1
Women's College Hospital - Stacks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (571) 571
Spanish (10) 10
German (7) 7
French (5) 5
Korean (2) 2
Arabic (1) 1
Russian (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, 12/2008, Volume 27, Issue 10, pp. S1 - S42
Background: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification.... 
Grayson-Wilbrandt corneal dystrophy | Meesmann corneal dystrophy | TGFBI BIGH3 GENE | pre-Descemet corneal dystrophy | GROENOUW TYPE-I | corneal histopathology | GELSOLIN-RELATED AMYLOIDOSIS | Thiel-Behnke corneal dystrophy | posterior polymorphous corneal dystrophy | epithelial basement membrane dystrophy | POSTERIOR POLYMORPHOUS DYSTROPHY | granular corneal dystrophy 2 | COMPOUND HETEROZYGOUS MUTATIONS | granular corneal dystrophy 1 | genetic corneal disease | Schnyder corneal dystrophy | inherited corneal disease | WHORLED MICROCYSTIC DYSTROPHY | congenital hereditary endothelial dystrophy 1 | congenital hereditary endothelial dystrophy 2 | posterior amorphous corneal dystrophy | central cloudy dystrophy of Francois | macular corneal dystrophy | Schnyder crystalline corneal dystrophy | congenital stromal corneal dystrophy | gene | subepithelial mucinous corneal dystrophy | VIVO CONFOCAL MICROSCOPY | CENTRAL CLOUDY DYSTROPHY | Lisch epithelial corneal dystrophy | corneal dystrophy | eponym | X-linked endothelial corneal dystrophy | mutation | key reference | CARBOHYDRATE SULFOTRANSFERASE GENE | fleck corneal dystrophy | HEREDITARY ENDOTHELIAL DYSTROPHY | epithelial recurrent erosion dystrophy | gelatinous drop-like corneal dystrophy | OPHTHALMOLOGY | Avellino corneal dystrophy | lattice gelsolin type dystrophy | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy
Journal Article
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 01/2011, Volume 228, pp. S1 - S39
Background: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification.... 
Grayson-Wilbrandt corneal dystrophy | Meesmann corneal dystrophy | TGFBI BIGH3 GENE | pre-Descemet corneal dystrophy | central cloudy dystrophy of Francxois | corneal histopathology | GELSOLIN-RELATED AMYLOIDOSIS | Thiel-Behnke corneal dystrophy | epithelial basement membrane dystrophy | POSTERIOR POLYMORPHOUS DYSTROPHY | granular corneal dystrophy 2 | COMPOUND HETEROZYGOUS MUTATIONS | granular corneal dystrophy 1 | genetic corneal disease | Schnyder corneal dystrophy | inherited corneal disease | WHORLED MICROCYSTIC DYSTROPHY | congenital hereditary endothelial dystrophy 1 | congenital hereditary endothelial dystrophy 2 | posterior amorphous corneal dystrophy | HELIX TERMINATION MOTIF | macular corneal dystrophy | Schnyder crystalline corneal dystrophy | congenital stromal corneal dystrophy | gene | subepithelial mucinous corneal dystrophy | VIVO CONFOCAL MICROSCOPY | CENTRAL CLOUDY DYSTROPHY | Lisch epithelial corneal dystrophy | corneal dystrophy | eponym | Fuchs endothelial corneal dystrophy posterior | X-linked endothelial corneal dystrophy | mutation | key reference | CARBOHYDRATE SULFOTRANSFERASE GENE | fleck corneal dystrophy | HEREDITARY ENDOTHELIAL DYSTROPHY | epithelial recurrent erosion dystrophy | gelatinous drop-like corneal dystrophy | polymorphous corneal dystrophy | OPHTHALMOLOGY | Avellino corneal dystrophy | lattice gelsolin type dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy
Journal Article
Cornea, ISSN 0277-3740, 12/2008, Volume 27 Suppl 2, Issue Suppl 2, pp. S1 - S42
The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification.... 
Corneal Dystrophies, Hereditary - history | Ophthalmology - trends | Phenotype | Corneal Dystrophies, Hereditary - pathology | Humans | Corneal Dystrophies, Hereditary - genetics | Terminology as Topic | History, 19th Century | International Cooperation | Corneal Dystrophies, Hereditary - classification | Grayson-Wilbrandt corneal dystrophy | Meesmann corneal dystrophy | pre-Descemet corneal dystrophy | corneal histopathology | Thiel-Behnke corneal dystrophy | posterior polymorphous corneal dystrophy | epithelial basement membrane dystrophy | granular corneal dystrophy 2 | granular corneal dystrophy 1 | genetic corneal disease | Schnyder corneal dystrophy | inherited corneal disease | congenital hereditary endothelial dystrophy 1 | congenital hereditary endothelial dystrophy 2 | posterior amorphous corneal dystrophy | central cloudy dystrophy of François | macular corneal dystrophy | Schnyder crystalline corneal dystrophy | congenital stromal corneal dystrophy | gene | subepithelial mucinous corneal dystrophy | Lisch epithelial corneal dystrophy | corneal dystrophy | eponym | X-linked endothelial corneal dystrophy | mutation | key reference | fleck corneal dystrophy | epithelial recurrent erosion dystrophy | gelatinous drop-like corneal dystrophy | Avellino corneal dystrophy | lattice gelsolin type dystrophy | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bücklers corneal dystrophy
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 02/2012, Volume 33, Issue 2, pp. 419 - 428
Journal Article
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
Human Mutation, ISSN 1059-7794, 03/2017, Volume 38, Issue 3, pp. 279 - 288
We studied the structural effects of point mutations of a membrane protein that cause genetic disease. SLC4A11 is a membrane transport protein (OH − /H + /NH 3... 
congenital hereditary endothelial dystrophy (CHED), Fuchs endothelial dystrophy (FECD), corneal dystrophy | SLC4A11, homology modeling | SLC4A11 | corneal dystrophy | Fuchs endothelial dystrophy (FECD) | ANION-EXCHANGERS | homology modeling; congenital hereditary endothelial dystrophy (CHED) | NUCLEIC-ACIDS | SWISS-MODEL | HARBOYAN SYNDROME | PROTEIN STRUCTURES | HEREDITARY ENDOTHELIAL DYSTROPHY | STRUCTURE VALIDATION | EVOLUTIONARY CONSERVATION | GENETICS & HEREDITY | TRANSPORT FUNCTION | BLOOD-CELL BAND-3 | Antiporters - chemistry | Humans | Protein Multimerization | Corneal Dystrophies, Hereditary - genetics | Structure-Activity Relationship | Anion Transport Proteins - chemistry | Biological Transport | Protein Interaction Domains and Motifs - genetics | Antiporters - genetics | HEK293 Cells | Conserved Sequence | Protein Domains | Catalysis | Amino Acid Sequence | Gene Expression | Genetic Predisposition to Disease | Models, Molecular | Antiporters - metabolism | Corneal Dystrophies, Hereditary - metabolism | Anion Transport Proteins - metabolism | Alleles | Protein Conformation | Mutation | Anion Transport Proteins - genetics | Amino Acid Substitution | Genetic disorders | Gene mutations | Analysis | Crystals | Genetic aspects | Models | Structure | Glutamine | Endothelium | Proteins | Eye diseases | Cornea | Crystal structure | Homology | Cell surface | Membrane proteins | Pathogenicity | Packing | Corneal dystrophy | Dystrophy | Protein transport | Protein structure | Index Medicus
Journal Article
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 04/2018, Volume 59, Issue 5, pp. 1888 - 1896
Journal Article