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American journal of human genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, pp. 631 - 639
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Chromosomes, Human, Pair 13 - genetics | Oligonucleotide Array Sequence Analysis | Humans | Receptors, G-Protein-Coupled | Molecular Sequence Data | Mutation - genetics | Pupil Disorders - pathology | Sequence Analysis, DNA | Pupil Disorders - genetics | Comparative Genomic Hybridization | Pedigree | Base Sequence | Gene Components | Hydro-Lyases - genetics | Genes, Dominant - genetics | Pupil Disorders - congenital | Receptors, Cell Surface - genetics | Causes of | Genetic disorders | Gene mutations | Identification and classification | Glaucoma | Proteins | Genotype & phenotype | Congenital diseases | Genomics | Genetics | Gene expression | Index Medicus | Mutation/genetics | Chromosomes, Human, Pair 13/genetics | Pupil Disorders/congenital | Pupil Disorders/pathology | Pupil Disorders/genetics | Hydro-Lyases/genetics | Life Sciences | Receptors, Cell Surface/genetics | DNA | Sequence Analysis | Genes, Dominant/genetics | Report
Journal Article
American journal of human genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 266 - 274
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Odontodysplasia - pathology | Humans | Vascular Calcification - genetics | Child, Preschool | Molecular Sequence Data | Male | Metacarpus - abnormalities | Mutation, Missense - genetics | Base Sequence | Adult | Female | Osteoporosis - genetics | Odontodysplasia - diagnostic imaging | DEAD-box RNA Helicases - chemistry | Aortic Diseases - pathology | DEAD Box Protein 58 | Musculoskeletal Abnormalities - diagnostic imaging | Cells, Cultured | Models, Molecular | Muscular Diseases - pathology | Vascular Calcification - pathology | Sequence Analysis, DNA | Radiography | DEAD-box RNA Helicases - genetics | Aortic Diseases - genetics | Exome - genetics | Osteoporosis - pathology | Pedigree | Musculoskeletal Abnormalities - genetics | Metacarpus - pathology | Polymorphism, Single Nucleotide - genetics | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - pathology | Glaucoma - genetics | Dental Enamel Hypoplasia - genetics | Genes, Dominant - genetics | Physiological aspects | Genetic research | Genetic disorders | Research | Gene mutations | Glaucoma | Psoriasis | RNA-protein interactions | ABC transporters | Mutation | Gene expression | Index Medicus | Report
Journal Article
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1126 - 1130
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Meta-Analysis as Topic | Glaucoma, Open-Angle - genetics | Humans | Middle Aged | Genetic Loci - genetics | Male | Young Adult | Chromosomes, Human, Pair 9 - genetics | Intraocular Pressure - genetics | ABO Blood-Group System - genetics | Aged, 80 and over | Adult | Female | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Risk Factors | Genotype | Chromosomes, Human, Pair 11 - genetics | Aged | Fibronectins - genetics | Polymorphism, Single Nucleotide | Glaucoma - genetics | Chromosomes, Human, Pair 3 - genetics | ATP Binding Cassette Transporter 1 - genetics | Cohort Studies | Glaucoma | Quantitative trait loci | Genome-wide association studies | Genetic aspects | Health aspects | Identification and classification | Risk factors | Intraocular pressure | Studies | Genomes | Genealogy | Chromosomes | Meta-analysis | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 1864 - 11
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | 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 | Glaucoma | Cornea | Genes | Myopia | Association analysis | Genomes | Gene expression | Tissues | Connective tissues | Keratoconus | Collagen | Eye diseases | Extracellular matrix | Index Medicus
Journal Article
Human genetics, ISSN 0340-6717, 9/2019, Volume 138, Issue 8, pp. 1043 - 1049
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Glycoproteins - genetics | Cytochrome P-450 CYP1B1 - genetics | Cytoskeletal Proteins - genetics | Humans | alpha-Macroglobulins - genetics | Male | Penetrance | DNA Mutational Analysis - methods | Mutation - genetics | Genetic Testing - methods | Receptor, TIE-2 - genetics | Latent TGF-beta Binding Proteins - genetics | Phenotype | Intraocular Pressure - genetics | Pedigree | Alleles | Female | Eye Proteins - genetics | Glaucoma - genetics | Anion Transport Proteins - genetics | Cohort Studies | Ethylenediaminetetraacetic acid | Genetic disorders | Glaucoma in children | Analysis | Cytochrome P-450 | Genetic aspects | Disease susceptibility | Health aspects | Epidemiology | Glaucoma | Congenital diseases | Genetic analysis | Population studies | Mutation | Population genetics | Index Medicus
Journal Article
Human molecular genetics, ISSN 0964-6906, 08/2017, Volume 26, Issue 1, pp. R21 - R27
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease | Genome-Wide Association Study | Genetic Testing | Glaucoma, Open-Angle - genetics | Intraocular Pressure | Humans | Risk Factors | Asymptomatic Diseases | Glaucoma - diagnosis | Eye Proteins - genetics | Glaucoma - metabolism | Mutation | Glaucoma - genetics | Index Medicus | Invited Reviews
Journal Article
Nature (London), ISSN 0028-0836, 12/2020, Volume 588, Issue 7836, pp. 124 - 129
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Dependovirus - genetics | Eye - pathology | Epigenesis, Genetic | Humans | Axons - physiology | Octamer Transcription Factor-3 - genetics | Retinal Ganglion Cells - cytology | Vision, Ocular - physiology | DNA Methylation | Aging - genetics | SOXB1 Transcription Factors - genetics | Eye - innervation | Female | Cellular Reprogramming - genetics | Disease Models, Animal | Nerve Regeneration - genetics | Cell Survival | Mice, Inbred C57BL | Eye - cytology | Proto-Oncogene Proteins - genetics | Transcriptome - genetics | DNA-Binding Proteins - genetics | Genetic Vectors - genetics | Optic Nerve Injuries - genetics | Vision, Ocular - genetics | Animals | Aging - physiology | Cell Line, Tumor | Glaucoma - pathology | Mice | Glaucoma - genetics | Kruppel-Like Transcription Factors - genetics | Glaucoma | Oct-4 protein | Central nervous system | Gene expression | Tissues | Regeneration | Retinal ganglion cells | KLF4 protein | Vision | DNA methylation | Epigenetics | Aging | Methylation | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Human molecular genetics, ISSN 0964-6906, 06/2012, Volume 21, Issue 12, pp. 2836 - 2842
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Glaucoma and intraocular pressure | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Ophthalmology | Methods, theories and miscellaneous | Glaucoma, Open-Angle - genetics | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Male | Case-Control Studies | Glaucoma, Open-Angle - ethnology | Chromosomes, Human, Pair 9 - genetics | Cyclin-Dependent Kinase Inhibitor p15 - genetics | Trans-Activators - genetics | Aged, 80 and over | Adult | Female | Principal Component Analysis | Genetic Predisposition to Disease - genetics | Gene Frequency | Japan | Risk Factors | Cyclin-Dependent Kinase Inhibitor p16 - genetics | Genotype | Homeodomain Proteins - genetics | Alleles | Genetic Predisposition to Disease - ethnology | Aged | Polymorphism, Single Nucleotide | Genome-Wide Association Study - methods | Chromosomes, Human, Pair 14 - genetics | Index Medicus | Eye | Glaucoma | Linkage disequilibrium | chromosome 2 | Blindness | Development | Retina | Single-nucleotide polymorphism | chromosome 14 | chromosome 9
Journal Article