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1
المؤلفون: Yüksel Gezgin, Berkay Kırnaz, Afig Berdeli
المصدر: Molecular Biology Reports. 49:4643-4652
مصطلحات موضوعية: Inflammation, OTULIN gene, Protein Stability, Ubiquitin, High-Throughput Nucleotide Sequencing, ORAS, Web Server, General Medicine, In silico analysis, Amino-Acid Substitutions, Rare autoinflammatory disease, Next generation sequencing, Endopeptidases, Mutation, Genetics, Tool, Humans, Prediction, Child, Molecular Biology
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2
المؤلفون: Manna, Raffaele, Rigante, Donato
المصدر: Internal and Emergency Medicine
مصطلحات موضوعية: Autoinflammatory disease, Settore MED/16 - REUMATOLOGIA, Arthritis, Autoimmunity, Context (language use), Inflammation, Nuclear factor κb, Inflammasome, Autoimmune Diseases, 03 medical and health sciences, Inflammasomopathy, 0302 clinical medicine, Acquired immunodeficiency syndrome (AIDS), Internal Medicine, Humans, Medicine, Child, Recurrent fever, 030304 developmental biology, 030203 arthritis & rheumatology, 0303 health sciences, Innate immune system, business.industry, Innovative biotechnologies, Nuclear factor-κB, medicine.disease, Personalized medicine, Im - Review, Immunology, Autoinflammation, Emergency Medicine, Interferon, Interferons, medicine.symptom, business, Autoinflammatory Disorders, Interleukin-1, medicine.drug
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3
المؤلفون: Rose A. Medeiros, Mary Flack, Amanda K. Golembesky, Mark Lebwohl, Rachel H. Mackey, Nirali Kotowsky, Bruce Strober, Wendell C. Valdecantos, Leslie R. Harrold
المصدر: Dermatology and Therapy
مصطلحات موضوعية: medicine.medical_specialty, Standard of care, business.industry, Treatment options, Dermatology, medicine.disease, Key features, Steroid withdrawal, Unmet needs, Generalized pustular psoriasis, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Psoriasis, Medicine, Autoinflammatory disease, Survey, skin and connective tissue diseases, business, Original Research
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a115da520907f9f62fae84ceb09fa86b
https://doi.org/10.1007/s13555-021-00493-0 -
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المؤلفون: Di Wu, Mengzhu Zhao, Yi Luo, Tianli Meng, Na Wu, Min Shen, Weihong Yu
المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)مصطلحات موضوعية: Adult, Male, 0301 basic medicine, China, medicine.medical_specialty, genetic structures, Genotype, Science, Eye, Article, Young Adult, 03 medical and health sciences, Rheumatic diseases, 0302 clinical medicine, Atrophy, Asian People, Internal medicine, NLR Family, Pyrin Domain-Containing 3 Protein, Exome Sequencing, Autoinflammatory syndrome, medicine, Humans, Autoinflammatory disease, Papilledema, Caucasian population, Family Health, 030203 arthritis & rheumatology, Multidisciplinary, integumentary system, Adult patients, business.industry, Hereditary Autoinflammatory Diseases, Middle Aged, medicine.disease, Autoinflammatory Syndrome, Dermatology, eye diseases, Rheumatology, Pedigree, Phenotype, 030104 developmental biology, Mutation, Cohort, Medicine, Female, medicine.symptom, business
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المؤلفون: İlker Karacan, Ayşe Balamir, Serdal Uğurlu, Aslı Kireçtepe Aydın, Elif Everest, Seyit Zor, Merve Özkılınç Önen, Selçuk Daşdemir, Ozan Özkaya, Betül Sözeri, Abdurrahman Tufan, Deniz Gezgin Yıldırım, Selçuk Yüksel, Nuray Aktay Ayaz, Rukiye Eker Ömeroğlu, Kübra Öztürk, Mustafa Çakan, Oğuz Söylemezoğlu, Sezgin Şahin, Kenan Barut, Amra Adroviç, Emire Seyahi, Huri Özdoğan, Özgür Kasapçopur, Eda Tahir Turanlı
المساهمون: İstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Özkaya, Ozan, Ozan Özkaya / DKK-1373-2022, Ozan Özkaya / 7003365098
المصدر: Rheumatology International. 39:911-919
مصطلحات موضوعية: Male, Genetic testing, genetic association, lpin2 protein, autoinflammatory disease, pyrin, molecular pathology, Agammaglobulinemia, middle aged, genetics, cytoskeleton protein, Child, next generation sequencing, adult, Sequence analysis, adenosine deaminase deficiency, High-Throughput Nucleotide Sequencing, clinical trial, cryopyrin, Phosphotransferases (Alcohol Group Acceptor), priority journal, SLC29A3 protein, human, Child, Preschool, Majeed syndrome, Intercellular Signaling Peptides and Proteins, Mefv Gene, card14 protein, heredity, Immunology, DNA sequence, signal transducing adaptor protein, interleukin 10 receptor alpha, tmem173 protein, Article, Rheumatology, cross-sectional study, inheritance, Humans, human, CINCA syndrome, Genetic Testing, infancy, congenital dyserythropoietic anemia, mevalonate kinase, Calcium-Binding Proteins, Hereditary Autoinflammatory Diseases, Immunologic Deficiency Syndromes, Pyrin, major clinical study, pstpip1 protein, adenosine deaminase, Cytoskeletal Proteins, multicenter study, Severe Combined Immunodeficiency, Mevalonate Kinase Deficiency, genomic DNA, Adenosine Deaminase, systemic disease, NLRC4 protein, human, preschool child, slc29a3 protein, familial Mediterranean fever, genetic variability, hereditary periodic fever, pathogenicity, Immunology and Allergy, PSTPIP1 protein, human, Anemia, Dyserythropoietic, Congenital, nucleoside transporter, ada2 protein, osteomyelitis, vascular disease, Osteomyelitis, genetic screening, Middle Aged, unclassified drug, Familial Mediterranean Fever, female, young adult, sting associated vasculopathy, Female, caspase recruitment domain signaling protein, diagnostic value, Sequence Analysis, onset age, Adult, nlrc4 protein, Adolescent, MEFV gene, Nucleoside Transport Proteins, high throughput sequencing, Young Adult, Muckle Wells syndrome, follow up, mvk protein, signal peptide, phosphotransferase, Adaptor Proteins, Signal Transducing, MEFV protein, human, caspase recruitment domain protein 15, immune-related gene, calcium binding protein, Sequence Analysis, DNA, immune deficiency, Cryopyrin-Associated Periodic Syndromes, clinical feature, CARD Signaling Adaptor Proteins, ADA2 protein, human, protein
وصف الملف: application/pdf
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6
المؤلفون: Bruno Fautrel, Stéphane Mitrovic, Eugen Feist
المصدر: Nature Reviews. Rheumatology
مصطلحات موضوعية: Adult, 0301 basic medicine, Adult-onset Still's disease, medicine.medical_specialty, Review Article, Therapeutics, Disease, Inflammatory diseases, Severity of Illness Index, Adult age, 03 medical and health sciences, Rheumatic diseases, 0302 clinical medicine, Treatment targets, Rheumatology, Diagnosis, Severity of illness, medicine, Humans, Cytokine signalling, Autoinflammatory disease, Intensive care medicine, 030203 arthritis & rheumatology, Biological Products, Clinical Trials as Topic, business.industry, 030104 developmental biology, Disease Progression, Cytokines, Disease manifestation, business, Still's Disease, Adult-Onset, Biomarkers, Signal Transduction
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المؤلفون: Adamo Pio d’Adamo, Anna Monica Bianco, Giovanna Ferrara, Martina La Bianca, Antonella Insalaco, Alberto Tommasini, Manuela Pardeo, Marco Cattalini, Francesco La Torre, Martina Finetti, Clotilde Alizzi, Gabriele Simonini, Virginia Messia, Serena Pastore, Rolando Cimaz, Marco Gattorno, Andrea Taddio, for the Italian Pediatric Rheumatology Study Group
المساهمون: D'Adamo, A. P., Bianco, A. M., Ferrara, G., La Bianca, M., Insalaco, A., Tommasini, A., Pardeo, M., Cattalini, M., La Torre, F., Finetti, M., Alizzi, C., Simonini, G., Messia, V., Pastore, S., Cimaz, R., Gattorno, M., Taddio, A.
المصدر: Pediatric Rheumatology Online Journal
Pediatric Rheumatology Online Journal, Vol 18, Iss 1, Pp 1-6 (2020)مصطلحات موضوعية: Male, 0301 basic medicine, lcsh:Diseases of the musculoskeletal system, Chronic nonbacterial osteomyelitis, Gastroenterology, Cohort Studies, Pathogenesis, 0302 clinical medicine, Prevalence, Immunology and Allergy, Medicine, Child, Letter to the Editor, lcsh:RJ1-570, Osteomyelitis, Chronic non-bacterial osteomyeliti, CRMO, Exact test, Italy, Cohort, Autoinflammation, Female, Bone Remodeling, Research Article, CNO, Cohort study, Autoinflammatory disease, Bone sterile inflammation, medicine.medical_specialty, Chronic non-bacterial osteomyelitis, FBLIM1 gene, 03 medical and health sciences, Rheumatology, Internal medicine, Humans, Genetic Predisposition to Disease, Allele frequency, Gene, 030203 arthritis & rheumatology, Polymorphism, Genetic, business.industry, lcsh:Pediatrics, medicine.disease, Chronic recurrent multifocal osteomyelitis, Cytoskeletal Proteins, 030104 developmental biology, Pediatrics, Perinatology and Child Health, lcsh:RC925-935, business, Cell Adhesion Molecules
وصف الملف: ELETTRONICO
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المؤلفون: Ali S M Jawad, Imad Uthman, Georges El Hasbani
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, Autoinflammatory diseases, Pharmacology toxicology, lcsh:Medicine, Familial Mediterranean fever, Review, Biologics, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Animals, Humans, Colchicine, Pharmacology (medical), Autoinflammatory disease, Genetics (clinical), 030203 arthritis & rheumatology, Interleukin-6, Tumor Necrosis Factor-alpha, business.industry, lcsh:R, Acute-phase protein, General Medicine, medicine.disease, Colchicine resistance, 030104 developmental biology, chemistry, Immunology, COLCHICINE RESISTANCE, Tumor necrosis factor alpha, business, Interleukin-1
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9
المؤلفون: Hansel J. Otero, Razan Noorelahi, Geovanny F. Perez
المصدر: Pediatric Radiology. 48:279-282
مصطلحات موضوعية: Lung Diseases, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Hemosiderosis, Mutation, Missense, Contrast Media, Computed tomography, Pulmonary hemosiderosis, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Radiology, Nuclear Medicine and imaging, Autoinflammatory disease, Child, Neuroradiology, 030203 arthritis & rheumatology, medicine.diagnostic_test, business.industry, Arthritis, Immunologic Deficiency Syndromes, Autoantibody, Polyarticular Arthritis, Magnetic resonance imaging, Temporomandibular Joint Disorders, Magnetic Resonance Imaging, Respiratory Function Tests, Temporomandibular joint, 030104 developmental biology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Radiology, Tomography, X-Ray Computed, business
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المؤلفون: Yvonne Bordon
المصدر: Nature Reviews Immunology. 20:462-463
مصطلحات موضوعية: 0301 basic medicine, History, business.industry, Burn out, Familial Mediterranean fever, Plague (disease), medicine.disease, Virology, Pyrin domain, Computer Science Applications, Education, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mutation (genetic algorithm), Pandemic, Medicine, Autoinflammatory disease, business, 030215 immunology
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