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Annual review of genetics, ISSN 0066-4197, 12/2012, Volume 46, Issue 1, pp. 475 - 497
collagen | collagen folding | collagen-modifying proteins | prolyl 3-hydroxylation | rough endoplasmic reticulum | Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase - genetics | Genetics, Population | Genetic Predisposition to Disease - genetics | Gene Frequency | Humans | Osteogenesis Imperfecta - genetics | Tacrolimus Binding Proteins - metabolism | Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase - metabolism | Genes, Recessive | HSP47 Heat-Shock Proteins - genetics | Fractures, Bone - genetics | Genetic Heterogeneity | Procollagen-Proline Dioxygenase - metabolism | Tacrolimus Binding Proteins - genetics | Inheritance Patterns | Phenotype | Collagen Type I - genetics | Procollagen-Proline Dioxygenase - genetics | Alleles | HSP47 Heat-Shock Proteins - metabolism | Heterozygote | Fractures, Bone - pathology | Mutation | Epigenetic inheritance | Gene mutations | Osteogenesis imperfecta | Physiological aspects | Genetic aspects | Research | Gene expression | Genetics | Genetic disorders | Bone diseases | Collagen | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 590 - 597
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Wnt1 Protein - genetics | Genes, Recessive - genetics | Humans | Child, Preschool | Osteogenesis Imperfecta - genetics | Infant | Male | Mutation - genetics | Disease Progression | Young Adult | Pedigree | Adult | Female | Osteogenesis Imperfecta - pathology | Child | RNA sequencing | Care and treatment | Gene mutations | Analysis | Osteogenesis imperfecta | Research | Diagnosis | Protein-protein interactions | Osteoporosis | Fractures | RNA | Collagen | Low density lipoproteins | Genomics | Medical genetics | Bones | Genetic aspects | Density | Protein binding | Signal transduction | Genetic disorders | Genetic research | Bone density | Mutation | Binding sites | Index Medicus | Report
Journal Article
American journal of human genetics, ISSN 0002-9297, 2010, Volume 86, Issue 3, pp. 389 - 398
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Osteogenesis Imperfecta - metabolism | Humans | Collagen Type I - chemistry | Child, Preschool | Endoplasmic Reticulum - metabolism | Molecular Sequence Data | Osteogenesis Imperfecta - genetics | Male | Mutation, Missense | Base Sequence | Fatal Outcome | Conserved Sequence | Female | Protein Stability | Amino Acid Sequence | Collagen Type I - metabolism | Osteogenesis Imperfecta - diagnostic imaging | Genes, Recessive | HSP47 Heat-Shock Proteins - genetics | DNA - genetics | Radiography | Sequence Homology, Amino Acid | Homozygote | Phenotype | Pedigree | HSP47 Heat-Shock Proteins - metabolism | Consanguinity | Proteasome Endopeptidase Complex - metabolism | Amino Acid Substitution | Osteogenesis imperfecta | Genetic aspects | Research | Gene mutations | Homozygosity | Proteins | Genetics | Mutation | Proteases | Genes | Index Medicus
Journal Article
The New England journal of medicine, ISSN 0028-4793, 08/2006, Volume 355, Issue 8, pp. 788 - 798
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Cardiology. Vascular system | Biological and medical sciences | General aspects | Medical sciences | Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous | Blood and lymphatic vessels | Aneurysm, Dissecting - genetics | Receptors, Transforming Growth Factor beta - genetics | Collagen Type III - biosynthesis | Humans | Protein-Serine-Threonine Kinases | Male | Abnormalities, Multiple - mortality | Mutation, Missense | Activin Receptors, Type I - genetics | Syndrome | Pregnancy | Ehlers-Danlos Syndrome - genetics | Phenotype | Abnormalities, Multiple - therapy | DNA Mutational Analysis | Pregnancy Complications - genetics | Survival Analysis | Germ-Line Mutation | Adult | Female | Aortic Aneurysm - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Arteries - abnormalities | Aneurysms | Causes of | Genetic code | Genetic aspects | Gene mutations | Analysis | Index Medicus | Abridged Index Medicus
Journal Article
Genetics in medicine, ISSN 1098-3600, 01/2016, Volume 18, Issue 1, pp. 20 - 24
gene sequence variants of unknown significance | laboratory interpretation | concordance | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Data Interpretation, Statistical | Reproducibility of Results | Genetic Association Studies | Gene Frequency | Humans | Genetic Testing - methods | Sequence Analysis, DNA - methods | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2691 - 2696
congenital disorder of glycosylation | linkeropathy | multiple fractures | B3GAT3 | proteoglycan disorder | Congenital disorder of glycosylation | Linkeropathy | Proteoglycan disorder | Multiple fractures | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Testing | Humans | Infant | Male | Mutation - genetics | Syndrome | Radiography | Glucuronosyltransferase - genetics | Homozygote | Phenotype | Fractures, Multiple - diagnostic imaging | Infant, Newborn | Fractures, Multiple - genetics | Bones | Density | Genetic aspects | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1466 - 1475
collagen folding | SERPINH1 | RER retention signal | osteogenesis imperfecta | regulatory mutation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Osteogenesis imperfecta | Bones | Genetic aspects | RNA | Density | Collagen | Phenotypes | Procollagen | Transcription | Frameshift mutation | Heterozygotes | Trimers | Lethality | Gene deletion | Embryos | Fractures | Clonal deletion | Arginine | Alleles | Fibroblasts | Bone density | Skin | Children | Mutation | Osteogenesis | Index Medicus
Journal Article
The American journal of cardiology, ISSN 0002-9149, 2007, Volume 99, Issue 5, pp. 686 - 690
Cardiovascular | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Cardiology. Vascular system | Heart | Biological and medical sciences | Endocardial and cardiac valvular diseases | Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava | Medical sciences | Predictive Value of Tests | Echocardiography | Age Factors | Aorta - diagnostic imaging | Aortic Valve - diagnostic imaging | Aortic Valve - abnormalities | Humans | Middle Aged | Aortic Valve - physiopathology | Elasticity | Male | Phenotype | Adult | Female | Aged | Blood Pressure - physiology | Retrospective Studies | Aorta - physiopathology | Heart valve diseases | Analysis | Genetic aspects | Genotype & phenotype | Cardiovascular disease | Ultrasonic imaging | Cardiology | Coronary vessels | Index Medicus | Abridged Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 2010, Volume 86, Issue 4, pp. 551 - 559
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Humans | Osteogenesis Imperfecta - genetics | Male | Mutation - genetics | Genes, Recessive | Case-Control Studies | Tacrolimus Binding Proteins - genetics | Homozygote | Phenotype | Collagen Type I - genetics | Pedigree | Adolescent | Female | Osteogenesis Imperfecta - pathology | Child | Skin - pathology | Cohort Studies | Osteogenesis imperfecta | Genetic aspects | Gene mutations | Protein folding | Analysis | Proteins | Bones | Mutation | Pathogenesis | Genes | Index Medicus
Journal Article