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Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
ObjectiveMevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | 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
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2017, Volume 12, Issue 10, p. e0185785
Background Hereditary thrombophilia (HT) is a genetic predisposition to thrombosis. Asian mutation spectrum of HT is different from Western ones. We... 
POPULATION | FACTOR-V-LEIDEN | RISK-FACTORS | MANAGEMENT | MULTIDISCIPLINARY SCIENCES | PULMONARY-EMBOLISM | MUTATION | DEEP-VEIN THROMBOSIS | ANTITHROMBIN-III | PROTEIN-C | CARRIERS | Protein C Deficiency - complications | Conjunctivitis - genetics | Protein C Deficiency - physiopathology | Humans | Middle Aged | Plasminogen - genetics | Male | Antithrombin III Deficiency - genetics | Antithrombin III - genetics | Skin Diseases, Genetic - genetics | Thrombophilia - etiology | Protein S Deficiency - genetics | Thrombophilia - diagnosis | Antithrombin III Deficiency - physiopathology | Skin Diseases, Genetic - diagnosis | Adult | Female | Retrospective Studies | Antithrombin III Deficiency - complications | Protein S Deficiency - physiopathology | Skin Diseases, Genetic - complications | Antithrombin III Deficiency - diagnosis | Republic of Korea | Venous Thromboembolism - diagnosis | Thrombophilia - genetics | Gene Expression | Protein S Deficiency - complications | Protein S - genetics | Thrombophilia - physiopathology | Sequence Analysis, DNA | Venous Thromboembolism - etiology | Venous Thromboembolism - genetics | Skin Diseases, Genetic - physiopathology | Venous Thromboembolism - physiopathology | Conjunctivitis - physiopathology | Protein C Deficiency - diagnosis | Aged | Protein C Deficiency - genetics | Conjunctivitis - complications | Protein C - genetics | Protein S Deficiency - diagnosis | Conjunctivitis - diagnosis | Plasminogen - deficiency | Type 2 diabetes | Protein C | Genetic aspects | Research | Nucleotide sequencing | Health aspects | DNA sequencing | Hypertension | Anticoagulants | Stroke | Laboratories | Embolisms | Protein deficiency | Antithrombin | Patients | Thrombosis | Gene sequencing | Proteins | Medicine | Thrombophilia | Protein S | Genetics | Diabetes | Mutation | Thromboembolism | Cardiology | Health risk assessment | Deoxyribonucleic acid--DNA | Veins & arteries | Deoxyribonucleic acid | DNA
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 11/2015, Volume 74, Issue 11, pp. 2043 - 2049
ObjectiveTo evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry,... 
ARTICULAR SYNDROME | NLRP3 MUTATION | LOW-LEVEL MOSAICISM | SYNDROMES CAPS | GENETIC-HETEROGENEITY | MUCKLE-WELLS-SYNDROME | COLD AUTOINFLAMMATORY SYNDROME | RHEUMATOLOGY | CIAS1 MUTATIONS | AA AMYLOIDOSIS | MULTISYSTEM INFLAMMATORY DISEASE | 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
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, p. e0180981
Plasminogen (Plg) is a precursor of plasmin that degrades fibrin. A race-specific A620T mutation in Plg, also known as Plg-Tochigi, originally identified in a... 
SYSTEM | HUMAN-DISEASE | GENE | ACTIVE-SITE | MULTIDISCIPLINARY SCIENCES | MOLECULAR ABNORMALITY | MUTATION | DEEP-VEIN THROMBOSIS | DEFICIENT MICE | LIGNEOUS CONJUNCTIVITIS | CEREBRAL-ISCHEMIA | Conjunctivitis - genetics | Humans | Venous Thrombosis - blood | Brain Ischemia - genetics | Fibrin - genetics | Plasminogen - genetics | Male | Plasminogen - metabolism | Skin Diseases, Genetic - blood | Conjunctivitis - blood | Venous Thromboembolism - pathology | Stroke - genetics | Protein S - metabolism | Pulmonary Embolism - pathology | Skin Diseases, Genetic - genetics | Venous Thromboembolism - blood | Stroke - pathology | Brain Ischemia - blood | Fibrinolysin - genetics | Female | Fibrinolysin - metabolism | Disease Models, Animal | Pulmonary Embolism - genetics | Gene Expression | Protein S - genetics | Skin Diseases, Genetic - pathology | Mice, Transgenic | Gene Knock-In Techniques | Pulmonary Embolism - blood | Stroke - blood | Conjunctivitis - pathology | Phenotype | Venous Thromboembolism - genetics | Animals | Brain Ischemia - pathology | Mice | Venous Thrombosis - genetics | Wound Healing - physiology | Mutation | Venous Thrombosis - pathology | Fibrin - metabolism | Amino Acid Substitution | Plasminogen - deficiency | Fibrin | Gene mutations | Venous thrombosis | Genetic aspects | Dosage and administration | Thrombolytic drugs | Research | Health aspects | Brain | Animal models | Populations | Pathogenesis | Tissue factor | Coexistence | Plasmin | Risk factors | Proteins | Urokinase | Ischemia | Rodents | Race | Thromboembolism | Medical research | Antigens | Stroke | Wound healing | Health risks | Thrombosis | Embolism | U-Plasminogen activator | Equivalence | Alleles | Lysis | Healing | Protein S | Skin | In vitro methods and tests
Journal Article
Journal Article
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 05/2005, Volume 171, Issue 10, pp. 1089 - 1095
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2012, Volume 7, Issue 1, p. e30222
The extent to which pathogens maintain the extraordinary polymorphism at vertebrate Major Histocompatibility Complex (MHC) genes via balancing selection has... 
HUMAN INFECTIOUS-DISEASES | POPULATION | EVOLUTIONARY GENETICS | FINCH CARPODACUS-MEXICANUS | IN-HOUSE FINCHES | PARASITE RESISTANCE | NATURAL-SELECTION | BIOLOGY | MYCOPLASMA-GALLISEPTICUM | MAJOR HISTOCOMPATIBILITY COMPLEX | COPY NUMBER VARIATION | Americas | Epidemics - history | Songbirds - genetics | History, 21st Century | Mycoplasma Infections - microbiology | Selection, Genetic - physiology | Bird Diseases - epidemiology | Mycoplasma Infections - genetics | Genetic Variation - physiology | Host-Pathogen Interactions - immunology | Polymorphism, Genetic | Genes, MHC Class II - genetics | Animals, Wild | Animals | Host-Pathogen Interactions - genetics | Mycoplasma Infections - veterinary | Epidemics - veterinary | Bird Diseases - genetics | Mycoplasma Infections - epidemiology | Mycoplasma conjunctivae - pathogenicity | Bird Diseases - microbiology | Mycoplasma conjunctivae - physiology | Genetic aspects | Genetic polymorphisms | Virulence (Microbiology) | Epidemics | Pathogens | Wildlife conservation | Populations | Microsatellites | Natural populations | Biological evolution | Birds | Genetic diversity | Exposure | Conjunctivitis | Gene expression | Gene polymorphism | Loci | Heterozygosity | Vertebrates | Demographics | Major histocompatibility complex | Equivalence | Host range | Population | Histocompatibility | Polymorphism
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 10053 - 10
In a transgenic mouse line hK14mIL33tg, with the expression of interleukin-33 (IL-33) driven by a keratin 14 promoter, keratoconjunctivitis developed... 
INTERLEUKIN-33 | ALLERGIC CONJUNCTIVITIS | EOTAXIN | INFLAMMATION | MULTIDISCIPLINARY SCIENCES | Interleukin-13 - immunology | Keratoconjunctivitis - immunology | Interleukin-5 - genetics | Epithelium, Corneal - pathology | Eosinophils - immunology | Interleukin-33 - immunology | Founder Effect | Conjunctiva - pathology | Interleukin-13 - genetics | Lymphocytes - immunology | Basophils - pathology | Basophils - immunology | Keratoconjunctivitis - pathology | Eosinophils - pathology | Interleukin-4 - genetics | Epithelium, Corneal - immunology | Disease Models, Animal | Tryptases - genetics | Tryptases - immunology | Mast Cells - immunology | Promoter Regions, Genetic | Conjunctiva - immunology | Signal Transduction | Membrane Proteins - genetics | Gene Expression Regulation | Keratoconjunctivitis - genetics | Chemokine CCL11 - genetics | Membrane Proteins - immunology | Mice, Transgenic | Immunity, Innate | Keratin-14 - genetics | Interleukin-5 - immunology | Interleukin-4 - immunology | Interleukin-33 - genetics | Lymphocytes - pathology | Animals | Mast Cells - pathology | Keratin-14 - immunology | Chemokine CCL11 - immunology | Mice | Blepharitis | Cornea | Lymphoid cells | Leukocytes (eosinophilic) | Transgenic mice | Interleukin 13 | Conjunctiva | Epithelium | Atopy | Keratin | Keratoconjunctivitis | Interleukin 4 | Interleukin 5 | Rodents | Mast cells | Leukocytes (basophilic)
Journal Article
Journal of Virology, ISSN 0022-538X, 10/2017, Volume 91, Issue 20
Avian influenza viruses of the H7 hemagglutinin (HA) subtype present a significant public health threat, as evidenced by the ongoing outbreak of human A(H7N9)... 
Influenza vaccines | H7 avian influenza virus | Influenza pandemics | Immunogenicity | Influenza | influenza | HEMAGGLUTINATION INHIBITION | CONFERS PROTECTION | HUMAN INFECTION | influenza vaccines | HUMANS | HUMAN-BEINGS | immunogenicity | A VIRUS | A(H7N9) VIRUS | CHALLENGE | HUMAN CONJUNCTIVITIS | VIROLOGY | influenza pandemics | MONOCLONAL-ANTIBODIES | Immunogenicity, Vaccine | Influenza A Virus, H1N1 Subtype - immunology | Orthomyxoviridae Infections - prevention & control | Vaccination | Neuraminidase - genetics | Hemagglutinin Glycoproteins, Influenza Virus - immunology | Influenza A Virus, H3N2 Subtype - genetics | Antibodies, Viral - blood | Influenza A Virus, H7N2 Subtype - immunology | Hemagglutinin Glycoproteins, Influenza Virus - genetics | Influenza A Virus, H7N9 Subtype - immunology | Neuraminidase - immunology | Hemagglutination Inhibition Tests | Antibodies, Neutralizing - immunology | Influenza A Virus, H7N7 Subtype - immunology | Influenza A Virus, H1N1 Subtype - genetics | Antibodies, Viral - biosynthesis | Reverse Genetics | Enzyme-Linked Immunosorbent Assay | Influenza A Virus, H3N2 Subtype - immunology | Vaccines, Inactivated - immunology | Animals | Influenza Vaccines - immunology | Vaccines, Inactivated - administration & dosage | Influenza A Virus, H7N9 Subtype - genetics | Mice | Influenza A Virus, H7N7 Subtype - genetics | Orthomyxoviridae Infections - virology | Antibodies, Neutralizing - blood | Influenza A Virus, H7N2 Subtype - genetics | Orthomyxoviridae Infections - immunology
Journal Article
Cellular and Molecular Life Sciences, ISSN 1420-682X, 12/2017, Volume 74, Issue 23, pp. 4293 - 4303
We found for the first time that IL-4 and IL-13, signature type 2 cytokines, are able to induce periostin expression. We and others have subsequently shown... 
Biomedicine, general | Biochemistry, general | Allergy | Biomarker | IL-4 | IL-13 | Cell Biology | Asthma | Life Sciences | Allergic conjunctivitis | Epithelial/mesenchymal interaction | Pulmonary fibrosis | Life Sciences, general | Matricellular protein | Atopic dermatitis | Periostin | Cross-talk | TGF-β | Scleroderma | INHALED CORTICOSTEROIDS | CELL BIOLOGY | TGF-beta | SERUM PERIOSTIN | UNCONTROLLED ASTHMA | BRONCHIAL-ASTHMA | SEVERE ASTHMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | EOSINOPHILIC INFLAMMATION | SYSTEMIC-SCLEROSIS | CHRONIC RHINOSINUSITIS | MYOFIBROBLAST DIFFERENTIATION | PULMONARY-FIBROSIS | Cell Adhesion Molecules - genetics | Dermatitis, Atopic - genetics | Epithelial Cells - drug effects | Humans | Cell Adhesion Molecules - antagonists & inhibitors | NF-kappa B - immunology | Hypersensitivity - immunology | Interleukin-13 - immunology | Cell Adhesion Molecules - immunology | Hypersensitivity - drug therapy | Mesenchymal Stromal Cells - immunology | Interleukin-13 - genetics | Dermatitis, Atopic - immunology | Anti-Inflammatory Agents - therapeutic use | Hypersensitivity - genetics | Interleukin-4 - genetics | Transforming Growth Factor beta - immunology | Mesenchymal Stromal Cells - drug effects | NF-kappa B - antagonists & inhibitors | Signal Transduction | Gene Expression Regulation | Epithelial Cells - pathology | Dermatitis, Atopic - pathology | Inflammation | Fibroblasts - pathology | Interleukin-4 - immunology | Dermatitis, Atopic - drug therapy | Transforming Growth Factor beta - genetics | NF-kappa B - genetics | Hypersensitivity - pathology | Epithelial Cells - immunology | Fibroblasts - drug effects | Fibroblasts - immunology | Mesenchymal Stromal Cells - pathology | Systemic scleroderma | Scleroderma (Disease) | Bone morphogenetic proteins | Respiratory tract diseases | Conjunctivitis | Transforming growth factors | Drugs | Mesenchyme | Pathogenesis | Epithelial cells | Rhinosinusitis | Dermatitis | Sinusitis | Inflammatory diseases | Immunosuppressive agents | Proteins | Interleukin 4 | Nose | Fibroblasts | NF-κB protein | Cytokines | Lung diseases | Hypersensitivity | Interleukin 13 | Allergies | Diseases | Hay fever | Fibrosis
Journal Article