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Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 51 - 51
Myelopathy | Demyelinating disorder | Leukodystrophy | Myelin | VLCFA | X-linked adrenoleukodystrophy | Peroxisome | X-ALD | Very long-chain fatty acids | ABCD1 | Addisons disease | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Diagnosis, Differential | Prognosis | Adrenoleukodystrophy - physiopathology | Humans | Male | Magnetic Resonance Imaging | Phenotype | Adrenoleukodystrophy - diagnosis | Adrenoleukodystrophy - therapy | Adolescent | Adult | Female | Adrenoleukodystrophy - genetics | Child | Practice Guidelines as Topic | Adrenoleukodystrophy | Gene mutations | Magnetic resonance imaging | Practice guidelines (Medicine) | Genetic aspects | Diagnosis | Fatty acids | Encephalitis | Spinal cord | Nuclear magnetic resonance--NMR | Adrenal glands | Disease | Colleges & universities | Hospitals | Genetic counseling | Brain research | Attention Deficit Hyperactivity Disorder | Boys | Mutation | Metabolic disorders | Index Medicus | Life Sciences | Genetics | Addison’s disease
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1611 - 1623.e3
Allergy and Immunology | Signal transducer and activator of transcription 1 | regulatory T cell | immune dysregulation–polyendocrinopathy–enteropathy–X-linked | chronic mucocutaneous candidiasis | forkhead box protein 3 | aneurysms | immune dysregulation-polyendocrinopathy-enteropathy-X-linked | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Cardiology. Vascular system | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous | Biological and medical sciences | Medical sciences | Blood and lymphatic vessels | T-Lymphocytes, Regulatory - metabolism | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Transcriptional Activation | Interleukin-17 - immunology | Child, Preschool | Male | Intestinal Diseases - immunology | Lymphocyte Subsets - immunology | T-Lymphocytes, Regulatory - immunology | Lymphocyte Subsets - metabolism | STAT1 Transcription Factor - metabolism | Genes, Dominant | Th17 Cells - metabolism | Interleukins - immunology | Female | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Phosphorylation - drug effects | Child | Intestinal Diseases - genetics | Immunophenotyping | DNA - metabolism | Forkhead Transcription Factors - genetics | STAT1 Transcription Factor - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Interferon-alpha - immunology | Polyendocrinopathies, Autoimmune - immunology | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Autoantibodies - immunology | Phenotype | Adolescent | Th17 Cells - immunology | Mutation | Cell Line, Transformed | Interferon-gamma - pharmacology | Autoimmunity | Medical colleges | Invisibility | Molecular genetics | Mycoses | Aneurysms | Genetic aspects | Children | Health aspects | Index Medicus | Abridged Index Medicus
Journal Article
Journal of clinical immunology, ISSN 0271-9142, 4/2016, Volume 36, Issue 3, pp. 187 - 194
Medical Microbiology | north african population | Biomedicine | Immunology | novel mutations | BTK | Infectious Diseases | Internal Medicine | XLA | Life Sciences & Biomedicine | Science & Technology | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Humans | Child, Preschool | Genetic Diseases, X-Linked - complications | Agammaglobulinemia - diagnosis | Infant | Male | Genetic Counseling | Protein-Tyrosine Kinases - immunology | Protein-Tyrosine Kinases - genetics | Morocco | Adult | Genetic Diseases, X-Linked - genetics | Algeria | Opportunistic Infections - immunology | B-Lymphocytes - pathology | Child | Tunisia | Opportunistic Infections - complications | Gene Expression | Agammaglobulinemia - complications | Genetic Association Studies | Gene Frequency | Opportunistic Infections - genetics | Sequence Analysis, DNA | Genetic Diseases, X-Linked - diagnosis | Opportunistic Infections - diagnosis | Genetic Diseases, X-Linked - immunology | B-Lymphocytes - immunology | Age of Onset | Alleles | Heterozygote | Mutation | Genetic research | Genetic aspects | B cells | Index Medicus | Agammaglobulinemia/diagnosis | Protein-Tyrosine Kinases/genetics | Agammaglobulinemia/complications | Life Sciences | Agammaglobulinemia/genetics | Genetic Diseases, X-Linked/complications | Opportunistic Infections/complications | Biochemistry, Molecular Biology | Agammaglobulinemia/immunology | Genetic Diseases, X-Linked/immunology | B-Lymphocytes/pathology | Genetic Diseases, X-Linked/diagnosis | Opportunistic Infections/diagnosis | B-Lymphocytes/immunology | Protein-Tyrosine Kinases/immunology | Agammaglobulinaemia Tyrosine Kinase | Opportunistic Infections/immunology | Opportunistic Infections/genetics | Genetic Diseases, X-Linked/genetics
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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Nature (London), ISSN 0028-0836, 09/2011, Volume 477, Issue 7363, pp. 211 - 215
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Cell Cycle Proteins - analysis | Spinal Cord - metabolism | Ubiquitins - genetics | Humans | Ubiquitin - metabolism | Molecular Sequence Data | Male | Dementia - genetics | DNA-Binding Proteins - metabolism | Base Sequence | Aging | Cell Cycle Proteins - genetics | Adult | Female | Child | Amino Acid Sequence | Cell Line | Dementia - pathology | Genes, X-Linked - genetics | Amyotrophic Lateral Sclerosis - genetics | Mutation - genetics | Amyotrophic Lateral Sclerosis - complications | Hippocampus - metabolism | Amyotrophic Lateral Sclerosis - pathology | Dementia - complications | Pedigree | Age of Onset | Ubiquitins - analysis | Proteasome Endopeptidase Complex - metabolism | Genes, Dominant - genetics | Amyotrophic lateral sclerosis | Genetic aspects | Diagnosis | Research | Gene mutations | Dementia | Proteins | Studies | Pathology | Pathogenesis | Neurodegeneration | Mutation | Alzheimers disease | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Journal of clinical immunology, ISSN 0271-9142, 8/2014, Volume 34, Issue 6, pp. 627 - 632
Medical Microbiology | Biomedicine | Immunology | autoimmune | inflammation | primary immunodeficiency | antibody deficiency | Infectious Diseases | Internal Medicine | X-linked agammaglobulinemia | Life Sciences & Biomedicine | Science & Technology | Autoimmunity | Crohn Disease - epidemiology | Agammaglobulinemia - immunology | Prevalence | United States | Arthritis - epidemiology | Humans | Inflammatory Bowel Diseases - immunology | Middle Aged | Arthritis - diagnosis | Inflammatory Bowel Diseases - diagnosis | Child, Preschool | Agammaglobulinemia - diagnosis | Infant | Male | Data Collection | Young Adult | Inflammatory Bowel Diseases - epidemiology | Crohn Disease - diagnosis | Arthritis - immunology | Adult | Female | Surveys and Questionnaires | Child | Genetic Diseases, X-Linked - epidemiology | Inflammation - immunology | Crohn Disease - immunology | Genetic Diseases, X-Linked - diagnosis | Genetic Diseases, X-Linked - immunology | Adolescent | Agammaglobulinemia - epidemiology | Arthritis | Inflammation | Health surveys | Agammaglobulinemia | Immunodeficiency | Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2017, Volume 141, Issue 1, pp. 365 - 371
Allergy and Immunology | X inactivation | lyonization | Superoxide | autoimmunity | dihydrorhodamine flow cytometry test | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Humans | Middle Aged | Granulomatous Disease, Chronic - genetics | Symptom Assessment | Child, Preschool | Infant | Granulomatous Disease, Chronic - complications | Granulomatous Disease, Chronic - immunology | Immunoglobulin M - immunology | Infection - etiology | Young Adult | Genes, X-Linked | Immunoglobulin G - immunology | Aged, 80 and over | Adult | Female | Odds Ratio | Child | Granulomatous Disease, Chronic - diagnosis | Genetic Association Studies | Phenotype | Adolescent | Biomarkers | Heterozygote | Aged | Mutation | X Chromosome Inactivation | Lupus | Chronic granulomatous disease | Populations | Deactivation | X-Chromosome inactivation | Disease | Neutrophils | Health risks | Infections | Arthritis | Inflammation | Inactivation | Patients | Carriers | X Chromosomes | Bacteria | Software | Oxidation | Aberration | Chromosomes | Age | Index Medicus | Abridged Index Medicus
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 06/2013, Volume 136, Issue 6, pp. 1708 - 1717
NBIA | iron | autophagy | basal ganglia | Rett syndrome | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Humans | Middle Aged | Neurodegenerative Diseases - diagnosis | Male | Neurodegenerative Diseases - genetics | Genetic Diseases, X-Linked - metabolism | Neurodegenerative Diseases - metabolism | Mutation - genetics | Iron - metabolism | Genetic Diseases, X-Linked - diagnosis | Brain - metabolism | Young Adult | Carrier Proteins - genetics | Adolescent | Adult | Female | Genetic Diseases, X-Linked - genetics | Cohort Studies | Index Medicus | Abridged Index Medicus | Basal ganglia | Original
Journal Article
JAMA ophthalmology, ISSN 2168-6165, 05/2014, Volume 132, Issue 7, pp. 866 - 873
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Humans | Male | Chromatography, Gas | Young Adult | Capsules | Genetic Diseases, X-Linked - drug therapy | Adult | Child | Retinitis Pigmentosa - physiopathology | Genetic Diseases, X-Linked - physiopathology | Docosahexaenoic Acids - therapeutic use | Electroretinography | Double-Blind Method | Administration, Oral | Retinitis Pigmentosa - drug therapy | Erythrocyte Membrane - metabolism | Retinal Cone Photoreceptor Cells - physiology | Treatment Outcome | Docosahexaenoic Acids - administration & dosage | Disease Progression | Genetic Diseases, X-Linked - diagnosis | Retinitis Pigmentosa - diagnosis | Docosahexaenoic Acids - blood | Retinal Rod Photoreceptor Cells - physiology | Adolescent | Usage | Retinitis pigmentosa | Causes of | Research | Diagnosis | Health aspects | Omega-3 fatty acids | Index Medicus | Abridged Index Medicus
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