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Nature neuroscience, ISSN 1097-6256, 09/2014, Volume 17, Issue 9, pp. 1156 - 1163
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Middle Aged | Male | Brain - physiology | Alzheimer Disease - pathology | Protein Interaction Maps | Amyloidosis - epidemiology | Amyloidosis - genetics | Tumor Suppressor Proteins - genetics | Aged, 80 and over | Alzheimer Disease - epidemiology | Female | Genetic Predisposition to Disease - epidemiology | Nuclear Proteins - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Amyloidosis - pathology | DNA Methylation - genetics | Carrier Proteins - genetics | Ankyrins - genetics | Adaptor Proteins, Signal Transducing - genetics | Brain - pathology | CpG Islands - genetics | Aged | Alzheimer Disease - genetics | Brain research | Genetic susceptibility | Genetic research | Development and progression | Genetic aspects | Research | Methylation | Alzheimer's disease | Index Medicus
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Annals of the rheumatic diseases, ISSN 0003-4967, 11/2015, Volume 74, Issue 11, pp. 2043 - 2049
ARTICULAR SYNDROME | NLRP3 MUTATION | Research Support, Non-U.S. Gov't | LOW-LEVEL MOSAICISM | SYNDROMES CAPS | GENETIC-HETEROGENEITY | MUCKLE-WELLS-SYNDROME | COLD AUTOINFLAMMATORY SYNDROME | CIAS1 MUTATIONS | AA AMYLOIDOSIS | Journal Article | MULTISYSTEM INFLAMMATORY DISEASE | Life Sciences & Biomedicine | Rheumatology | Science & Technology | Arthralgia - etiology | Uveitis - etiology | Conjunctivitis - genetics | Headache - etiology | Exanthema - genetics | Myalgia - genetics | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Child, Preschool | Infant | Male | Papilledema - genetics | Arthritis - genetics | Meningitis - etiology | Exanthema - etiology | Young Adult | Arthritis - etiology | Germ-Line Mutation | Adult | Female | Registries | Retrospective Studies | Arthralgia - genetics | Child | Cryopyrin-Associated Periodic Syndromes - complications | Meningitis - genetics | Severity of Illness Index | Cryopyrin-Associated Periodic Syndromes - genetics | Europe | Genotype | Myalgia - etiology | Hearing Loss, Sensorineural - genetics | Headache - genetics | Cryopyrin-Associated Periodic Syndromes - physiopathology | Carrier Proteins - genetics | Phenotype | Hearing Loss, Sensorineural - etiology | Adolescent | Alleles | Heterozygote | Mutation | Uveitis - genetics | Conjunctivitis - etiology | Cohort Studies | Papilledema - etiology | Complications and side effects | Nervous system diseases | Care and treatment | Research | Cryopyrin-associated periodic syndromes | Studies | Genotype & phenotype | Statistical analysis | Disease | Cold | Meningitis | Family medical history | Hearing impairment | Fever | Chronic illnesses | Index Medicus
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American journal of human genetics, ISSN 0002-9297, 2001, Volume 69, Issue 2, pp. 301 - 314
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Humans | Molecular Sequence Data | Male | Antigens, CD - genetics | Haplotypes - genetics | Ethnic Groups - genetics | DNA Mutational Analysis | Amyloidosis - genetics | Base Sequence | Female | Antigens, CD - chemistry | Receptors, Tumor Necrosis Factor - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Receptors, Tumor Necrosis Factor - chemistry | Introns - genetics | Alternative Splicing - genetics | Receptors, Tumor Necrosis Factor, Type I | Familial Mediterranean Fever - genetics | Models, Molecular | Exons - genetics | Penetrance | Mutation - genetics | Genetic Heterogeneity | Microsatellite Repeats - genetics | Pedigree | Polymorphism, Single Nucleotide - genetics | Gene mutations | Tumor necrosis factor | Analysis | Physiological aspects | Genetic aspects | Genomes | Fever | periodic-fever syndrome | tumor necrosis factor receptor-associated periodic syndrome | TNFRSF1A gene | Index Medicus
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Arthritis & rheumatology (Hoboken, N.J.), ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
Life Sciences & Biomedicine | Rheumatology | Science & Technology | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype | Index Medicus | Abridged Index Medicus
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Molecular therapy, ISSN 1525-0016, 07/2017, Volume 25, Issue 7, pp. 1467 - 1475
genetic drugs | gene therapy | lipid nanoparticles | siRNA | mRNA | gene editing | RNA, Small Interfering - genetics | Hepatitis B - metabolism | Nanoparticles - chemistry | Hepatitis B - genetics | Amyloid Neuropathies, Familial - metabolism | Atherosclerosis - genetics | Humans | Hepatocytes - pathology | Antineoplastic Agents - therapeutic use | Liver Neoplasms - therapy | Hepatocytes - metabolism | Amyloid Neuropathies, Familial - therapy | RNA, Messenger - metabolism | Lipids - chemistry | Atherosclerosis - therapy | Carcinoma, Hepatocellular - genetics | RNA, Messenger - administration & dosage | Plasmids - genetics | Liver Neoplasms - pathology | Hepatocytes - drug effects | Atherosclerosis - pathology | Hepatitis B - therapy | Liver Neoplasms - genetics | Amyloid Neuropathies, Familial - genetics | RNA, Messenger - genetics | Hepatitis B - pathology | Clinical Trials as Topic | Antineoplastic Agents - chemistry | Plasmids - metabolism | Amyloid Neuropathies, Familial - pathology | Atherosclerosis - metabolism | Animals | Lipids - pharmacokinetics | Carcinoma, Hepatocellular - pathology | Liver Neoplasms - metabolism | Carcinoma, Hepatocellular - therapy | Nanoparticles - administration & dosage | RNA, Small Interfering - administration & dosage | Drug Delivery Systems - methods | Plasmids - administration & dosage | Carcinoma, Hepatocellular - metabolism | Genetic Therapy - methods | RNA, Small Interfering - metabolism | Drugs | Drug delivery systems | Ethanol | Advantages | Transthyretin | Lipids | Breast cancer | Ovarian cancer | Nanoparticles | Proteins | Gene silencing | Liver cancer | Hepatocytes | Plasmids | Amyloidosis | Polymers | Gene therapy | Deoxyribonucleic acid--DNA | Index Medicus | Review
Journal Article
Circulation research, ISSN 0009-7330, 09/2017, Volume 121, Issue 7, pp. 819 - 837
Cardiomyopathies | Amyloidosis | Hemochromatosis | Diagnosis | Sarcoidosis | Cardiac & Cardiovascular Systems | Peripheral Vascular Disease | Life Sciences & Biomedicine | Hematology | Cardiovascular System & Cardiology | Science & Technology | Predictive Value of Tests | Genetic Predisposition to Disease | Prognosis | Ventricular Dysfunction | Humans | Risk Factors | Cardiomyopathy, Restrictive - diagnosis | Myocardium - pathology | Genetic Markers | Cardiomyopathy, Restrictive - therapy | Molecular Diagnostic Techniques | Phenotype | Animals | Biopsy | Cardiac Imaging Techniques | DNA Mutational Analysis | Cardiomyopathy, Restrictive - genetics | Mutation | Cardiomyopathy, Restrictive - physiopathology | Index Medicus
Journal Article
Amyloid, ISSN 1350-6129, 10/2016, Volume 23, Issue 4, pp. 209 - 213
inclusion body | nomenclature | amyloidosis | Amyloid fibril | amyloid protein | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, General & Internal | General & Internal Medicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Staining and Labeling - methods | Prealbumin - genetics | Guidelines as Topic | Apolipoprotein C-III - chemistry | Protein Precursors - chemistry | Humans | Apolipoprotein C-III - metabolism | tau Proteins - metabolism | Amyloidosis - diagnosis | Amyloidogenic Proteins - chemistry | Apolipoprotein C-III - genetics | Apolipoprotein C-II - genetics | tau Proteins - chemistry | Sequence Analysis, Protein | tau Proteins - genetics | Amyloidosis - genetics | Amyloidosis - classification | Prealbumin - chemistry | alpha-Synuclein - genetics | Apolipoprotein C-II - chemistry | Amyloidogenic Proteins - genetics | Biomarkers - metabolism | Gene Expression | Protein Precursors - genetics | Amyloidosis - pathology | Terminology as Topic | Protein Precursors - metabolism | alpha-Synuclein - chemistry | Amyloidogenic Proteins - metabolism | Prealbumin - metabolism | Apolipoprotein C-II - metabolism | Birefringence | Congo Red - chemistry | alpha-Synuclein - metabolism | Coloring Agents - chemistry | Index Medicus
Journal Article
The Journal of experimental medicine, ISSN 0022-1007, 2018, Volume 215, Issue 9, pp. 2235 - 2245
Immunology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Chemokine CCL3 - immunology | tau Proteins - immunology | Chemokine CCL4 - genetics | Male | Alzheimer Disease - pathology | Signal Transduction - immunology | Aging - immunology | Microglia - immunology | tau Proteins - genetics | Aging - genetics | Chemokine CCL3 - genetics | Amyloidosis - immunology | Amyloidosis - genetics | Microglia - pathology | Female | Alzheimer Disease - immunology | Disease Models, Animal | Amyloid - genetics | Amyloidosis - pathology | Mice, Transgenic | Signal Transduction - genetics | Aging - pathology | Animals | Apolipoproteins E - genetics | Apolipoproteins E - immunology | Amyloid - immunology | Mice | Chemokine CCL4 - immunology | Alzheimer Disease - genetics | Index Medicus | 320 | 306 | s | 311
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Image Gallery: Cutaneous findings in an adult with X‐linked reticulate pigmentary disorder
British journal of dermatology (1951), ISSN 0007-0963, 02/2019, Volume 180, Issue 2, pp. e37 - e37
Life Sciences & Biomedicine | Dermatology | Science & Technology | Amyloidosis, Familial - diagnosis | Amyloidosis, Familial - genetics | Humans | Pigmentation Disorders - diagnosis | Pigmentation Disorders - pathology | Skin Diseases, Genetic - pathology | Male | Amyloidosis, Familial - pathology | Genetic Diseases, X-Linked - diagnosis | Pigmentation Disorders - genetics | Skin Diseases, Genetic - genetics | DNA Mutational Analysis | Skin Diseases, Genetic - diagnosis | Genetic Diseases, X-Linked - pathology | Adult | Genetic Diseases, X-Linked - genetics | DNA Polymerase I - genetics | Skin - pathology | Skin | Genetic disorders
Journal Article
Acta neuropathologica, ISSN 0001-6322, 12/2018, Volume 136, Issue 6, pp. 857 - 872
Pathology | Neurosciences | Medicine & Public Health | Alzheimer disease | Neuropathology | Tau | Cerebrospinal fluid biomarkers | Amyloid | APOE | Sex difference | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Male | Alzheimer Disease - pathology | Brain - metabolism | Amyloidosis - genetics | Aged, 80 and over | Amyloid beta-Peptides - cerebrospinal fluid | Female | Amyloidosis - complications | Claudins - genetics | Genome-Wide Association Study | Peptide Fragments - cerebrospinal fluid | Serpins - genetics | Brain - physiopathology | Genotype | tau Proteins - cerebrospinal fluid | Transcription Factors - genetics | Alzheimer Disease - cerebrospinal fluid | Mutation - genetics | Muscle Proteins - genetics | Apolipoproteins E - genetics | Sex Factors | Brain - pathology | Biomarkers - cerebrospinal fluid | Alzheimer Disease - genetics | Religious orders | Sex differences | Gender differences | Genomes | Cerebrospinal fluid | Prefrontal cortex | Males | Gene expression | Tau protein | Autopsy | Genetic analysis | Biomarkers | Aging | Amyloidosis | Females | Alzheimer's disease | Plaques | Index Medicus | cerebrospinal fluid biomarkers | amyloid | sex difference | tau | neuropathology | Neurovetenskaper
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