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life sciences & biomedicine (6) 6
science & technology (6) 6
abridged index medicus (5) 5
allergy (5) 5
allergy and immunology (5) 5
humans (5) 5
immunology (5) 5
child, preschool (3) 3
female (3) 3
immunology and allergy (3) 3
adult (2) 2
autoimmunity (2) 2
biomarkers (2) 2
child (2) 2
consanguinity (2) 2
dna mutational analysis (2) 2
homozygote (2) 2
immunologic deficiency syndromes - genetics (2) 2
infant (2) 2
letter to the editor (2) 2
male (2) 2
mutation (2) 2
activated phosphoinositide 3-kinase δ syndrome (1) 1
adaptor proteins, signal transducing - genetics (1) 1
adaptor proteins, signal transducing/genetics (1) 1
adolescent (1) 1
agammaglobulinemia - complications (1) 1
agammaglobulinemia - genetics (1) 1
agammaglobulinemia - physiopathology (1) 1
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anemia, hemolytic - genetics (1) 1
anemia, hemolytic - physiopathology (1) 1
anemia, hemolytic/complications (1) 1
animals (1) 1
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apds, activated phosphoinositide-3 kinase δ syndrome (1) 1
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autoimmune diseases/complications (1) 1
balf, bronchoalveolar lavage fluid (1) 1
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cell line, transformed (1) 1
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chronic granulomatous disease (1) 1
class i phosphatidylinositol 3-kinases - antagonists & inhibitors (1) 1
class i phosphatidylinositol 3-kinases - genetics (1) 1
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exanthema (1) 1
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exome sequencing (1) 1
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feature reduction (1) 1
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1. Full Text Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
by Coulter, Tanya I., MRCPI and Chandra, Anita, PhD, FRCPath and Bacon, Chris M., PhD, FRCPath and Babar, Judith, MRCP, FRCR and Curtis, James, PhD and Screaton, Nick, FRCP, FRCR and Goodlad, John R., MD, FRCPath and Farmer, George, MD and Steele, Cathal Laurence, MB and Leahy, Timothy Ronan, MRCPI and Doffinger, Rainer, PhD, FRCPath and Baxendale, Helen, PhD, FRCPath and Bernatoniene, Jolanta, PhD and Edgar, J. David M., FRCP, FRCPath and Longhurst, Hilary J., PhD, FRCPath and Ehl, Stephan, MD, PhD and Speckmann, Carsten, MD and Grimbacher, Bodo, MD, PhD and Sediva, Anna, MD, PhD and Milota, Tomas, MD and Faust, Saul N., PhD, FRCPCH and Williams, Anthony P., PhD, FRCPath and Hayman, Grant, FRCP, FRCPath and Kucuk, Zeynep Yesim, MD and Hague, Rosie, MRCP, FRCPH and French, Paul, MD, MRCS, DipFMS, FRCPath and Brooker, Richard, FRCPCH and Forsyth, Peter, FRCPath and Herriot, Richard, FRCP, FRCPath and Cancrini, Caterina, MD, PhD and Palma, Paolo, MD, PhD and Ariganello, Paola, MD and Conlon, Niall, PhD, FRCPath and Feighery, Conleth, PhD, FRCPath and Gavin, Patrick J., MD and Jones, Alison, PhD, FRCPCH and Imai, Kohsuke, MD, PhD and Ibrahim, Mohammad A.A., PhD, FRCP, FRCPath and Markelj, Gašper, MD and Abinun, Mario, MD, PhD and Rieux-Laucat, Frédéric, PhD and Latour, Sylvain, PhD and Pellier, Isabelle, MD, PhD and Fischer, Alain, MD, PhD and Touzot, Fabien, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Durandy, Anne, MD, PhD and Burns, Siobhan O., MD, PhD and Savic, Sinisa, PhD, FRCPath and Kumararatne, D.S., FRCPath, DPhil (Oxon) and Moshous, Despina, MD, PhD and Kracker, Sven, PhD and Vanhaesebroeck, Bart, PhD, FMedSci and Okkenhaug, Klaus, PhD and Picard, Capucine, MD, PhD and Nejentsev, Sergey, MD, PhD and Condliffe, Alison M., PhD, FRCP and Cant, Andrew James, MD, FRCP, FRCPH
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 597 - 606.e4
Allergy and Immunology | Recurrence | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Class I Phosphatidylinositol 3-Kinases/antagonists & inhibitors | Young Adult | Immunoglobulins, Intravenous/therapeutic use | Enzyme Inhibitors/therapeutic use | Lymphoproliferative Disorders/genetics | Adult | Female | Surveys and Questionnaires | Child | Respiratory Tract Infections/genetics | Mutation/genetics | Hematopoietic Stem Cell Transplantation | International Cooperation | Herpesviridae Infections/genetics | Animals | Adolescent | Survival Analysis | Mice | Immunologic Deficiency Syndromes/genetics | Cohort Studies | Activated phosphoinositide 3-kinase δ syndrome | hematopoietic stem cell transplantation | phosphoinositide 3-kinase δ | immunodeficiency | phosphoinositide 3-kinase inhibitor | PIK3CD gene | bronchiectasis | p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Herpesviridae Infections - genetics | Immunologic Deficiency Syndromes - therapy | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Immunologic Deficiency Syndromes - genetics | Index Medicus | Abridged Index Medicus | Immune Deficiencies, Infection, and Systemic Immune Disorders | HSCT, Hematopoietic stem cell transplantation | BALF, Bronchoalveolar lavage fluid | CT, Computed tomography | APDS, Activated phosphoinositide-3 kinase δ syndrome | GOF, Gain of function | PI3K, Phosphoinositide 3-kinase | HSV, Herpes simplex virus | CMV, Cytomegalovirus | OR, Odds ratio | PPV, Pneumococcal polysaccharide vaccine | CNS, Central nervous system
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2. Full Text LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia
by Burns, Siobhan O., MD, PhD and Zenner, Helen L., PhD and Plagnol, Vincent, PhD and Curtis, James, BSc and Mok, Kin, MBBS, MSc and Eisenhut, Michael, MD and Kumararatne, Dinakantha, MD and Doffinger, Rainer, PhD and Thrasher, Adrian J., MD, PhD and Nejentsev, Sergey, MD, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2012, Volume 130, Issue 6, pp. 1428 - 1432
Allergy and Immunology | Humans | Child, Preschool | Agammaglobulinemia/complications | Adaptor Proteins, Signal Transducing/genetics | Sequence Deletion/genetics | Autoimmune Diseases/complications | Erythema Nodosum/complications | Homozygote | DNA Mutational Analysis | Anemia, Hemolytic/complications | Exome/genetics | Female | Consanguinity | Child | Cell Line, Transformed | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Autoimmune Diseases - physiopathology | Agammaglobulinemia - complications | Agammaglobulinemia - genetics | Autoimmune Diseases - complications | Anemia, Hemolytic - genetics | Agammaglobulinemia - physiopathology | Autoimmune Diseases - genetics | Exome - genetics | Erythema Nodosum - genetics | Erythema Nodosum - complications | Erythema Nodosum - physiopathology | Anemia, Hemolytic - complications | Adaptor Proteins, Signal Transducing - genetics | Anemia, Hemolytic - physiopathology | Sequence Deletion - genetics | Autoimmunity | Children's hospitals | Genes | Genetic research | Children | Universities and colleges | Health aspects | Diseases | Proteins | Lymphocytes | Mutation | Vaccines | Tetanus | Age | Immune system | Streptococcus infections | Index Medicus | Abridged Index Medicus | CVID | exome sequencing | autoimmunity | deletion | gene | Primary immunodeficiency
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3. Full Text Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom
by Battersby, Alexandra C., PhD and Braggins, Helen, RSCN and Pearce, Mark S., PhD and Cale, Catherine M., PhD and Burns, Siobhan O., PhD and Hackett, Scott, MD and Hughes, Stephen, PhD and Barge, Dawn, PhD and Goldblatt, David, PhD and Gennery, Andrew R., MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2017, Volume 140, Issue 2, pp. 628 - 630.e6
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Autoimmunity | Granulomatous Disease, Chronic - diagnosis | Phenotype | Genes, X-Linked | Humans | Symptom Assessment | Biomarkers | Heterozygote | United Kingdom | Granulomatous Disease, Chronic - etiology | Disease transmission | Phosphates | Discoid lupus erythematosus | Inflammatory bowel diseases | Serositis | Exanthema | Oxidase | Smooth muscle | Arthritis | Inactivation | NAD(P)H oxidase | Phagocytes | Pain | Coding | Intestine | Lupus | Photosensitivity | Gastrointestinal symptoms | Chronic granulomatous disease | Autoantibodies | Deactivation | NADPH-diaphorase | Raynaud disease | Neutrophils | Rheumatology | Diarrhea | Chorioretinitis | Carriers | Inflammatory bowel disease | Chronic conditions | Nephropathy | Ulcers | Nicotinamide adenine dinucleotide | Nicotinamide | Autoimmune diseases | Index Medicus | Abridged Index Medicus
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4. Full Text Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ
by Burns, Siobhan O., MD, PhD and Plagnol, Vincent, PhD and Gutierrez, Beatriz Morillo, MD and Al Zahrani, Daifulah, MD and Curtis, James, BSc and Gaspar, Miguel, PhD and Hassan, Amel, MD and Jones, Alison M., MD and Malone, Marian, MD and Rampling, Dyanne, FIBMS and McLatchie, Alex, BSc and Doffinger, Rainer, PhD and Gilmour, Kimberly C., PhD and Henriquez, Frances, MSc and Thrasher, Adrian J., MD, PhD and Gaspar, H. Bobby, MD, PhD and Nejentsev, Sergey, MD, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 215 - 218.e3
Allergy and Immunology | Homozygote | Immunologic Deficiency Syndromes/complications | DNA Mutational Analysis | I-kappa B Kinase/deficiency | Humans | Fatal Outcome | Female | Infant | Consanguinity | Codon, Nonsense | Mycobacterium Infections/complications | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Immunologic Deficiency Syndromes - pathology | I-kappa B Kinase - deficiency | Immunologic Deficiency Syndromes - complications | I-kappa B Kinase - genetics | Mycobacterium Infections - complications | Mycobacterium Infections - immunology | Mycobacterium Infections - genetics | Immunologic Deficiency Syndromes - genetics | I-kappa B Kinase - immunology | Mycobacterium Infections - pathology | Immunologic Deficiency Syndromes - immunology | Index Medicus | Abridged Index Medicus | Letter to the Editor
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5. Full Text Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ ( IL2RG ) gene promoter
by Chandra, Anita, MRCP, FRCPath, PhD and Zhang, Fang, PhD and Gilmour, Kimberly C., FRCPath, PhD and Webster, David, FRCPath and Plagnol, Vincent, PhD and Kumararatne, Dinakantha S., FRCPath, DPhil and Burns, Siobhan O., MB, PhD, MRCPI(Paeds) and Nejentsev, Sergey, MD, PhD and Thrasher, Adrian J., MRCP, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 137, Issue 3, pp. 940 - 942.e4
Allergy and Immunology | Promoter Regions, Genetic | Humans | Child, Preschool | Male | Common Variable Immunodeficiency/diagnosis | Interleukin Receptor Common gamma Subunit/genetics | Killer Cells, Natural/metabolism | Proto-Oncogene Proteins c-ets/metabolism | Lymphopenia/diagnosis | Protein Binding | Adult | Mutation | Binding Sites | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Common Variable Immunodeficiency - genetics | Interleukin Receptor Common gamma Subunit - genetics | Common Variable Immunodeficiency - diagnosis | Common Variable Immunodeficiency - metabolism | Lymphopenia - metabolism | Proto-Oncogene Proteins c-ets - metabolism | Killer Cells, Natural - metabolism | Lymphopenia - genetics | Lymphopenia - diagnosis | Index Medicus | Abridged Index Medicus | Letter to the Editor
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6. Full Text Conversion Discriminative Analysis on Mild Cognitive Impairment Using Multiple Cortical Features from MR Images
by Guo, Shengwen and Lai, Chunren and Wu, Congling and Cen, Guiyin and Alzheimer's Dis Neuroimaging and The Alzheimer's Disease Neuroimaging Initiative
Frontiers in aging neuroscience, ISSN 1663-4365, 2017, Volume 9, Issue MAY, pp. 146 - 146
no | Sparse-constrained regression | Cortical feature | Mild cognitive impairment | Conversion | Feature reduction | Classification | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Neuroimaging | Nuclear magnetic resonance--NMR | Medical imaging | Memory | Cortex | Cognitive ability | Substantia grisea | Atrophy | Magnetic resonance imaging | Spectrum analysis | Morphology | Biomarkers | Alzheimers disease | Dementia | mild cognitive impairment | feature reduction | classification | sparse-constrained regression | cortical feature | conversion
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