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1. Full Text A clinical guide to autoinflammatory diseases: Familial Mediterranean fever and next-of-kin
by Ozen, Seza and Bilginer, Yelda
Nature Reviews Rheumatology, ISSN 1759-4790, 03/2014, Volume 10, Issue 3, pp. 135 - 147
Autoinflammatory diseases are associated with abnormal activation of the innate immune system, leading to clinical inflammation and high levels of acute-phase... 
TNF RECEPTOR | PYRIN Q148 | HYPERIMMUNOGLOBULINEMIA-D | PEDIATRIC GRANULOMATOUS ARTHRITIS | MAJEED-SYNDROME | INTERNATIONAL REGISTRY | ETHNIC-GROUPS | RHEUMATOLOGY | CIAS1 MUTATIONS | PERIODIC SYNDROME TRAPS | MEFV MUTATIONS | Humans | Familial Mediterranean Fever - genetics | Interleukin-1 - immunology | Antibodies, Monoclonal - therapeutic use | Treatment Outcome | Familial Mediterranean Fever - drug therapy | Interleukin-1 - antagonists & inhibitors | Mutation - genetics | Antibodies, Monoclonal - immunology | Gene mutations | Genetic susceptibility | Genetic research | Familial Mediterranean fever | Genetic aspects | Research | Identification and classification
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2. Full Text EULAR recommendations for the management of familial Mediterranean fever
by Ozen, Seza and Demirkaya, Erkan and Erer, Burak and Livneh, Avi and Ben-Chetrit, Eldad and Giancane, Gabriella and Ozdogan, Huri and Abu, Illana and Gattorno, Marco and Hawkins, Philip N and Yuce, Sezin and Kallinich, Tilmann and Bilginer, Yelda and Kastner, Daniel and Carmona, Loreto
Annals of the Rheumatic Diseases, ISSN 0003-4967, 04/2016, Volume 75, Issue 4, pp. 644 - 651
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, but many rheumatologists are not well acquainted with its management.... 
INTRAVENOUS COLCHICINE | MUTATION ANALYSIS | COLCHICINE TREATMENT | DIAGNOSTIC-VALUE | SINGLE-CENTER EXPERIENCE | RISK-FACTORS | PROTRACTED FEBRILE MYALGIA | SUBCLINICAL INFLAMMATION | RENAL-TRANSPLANTATION | RHEUMATOLOGY | THERAPEUTIC APPROACH | Glucocorticoids - therapeutic use | Colchicine - therapeutic use | Europe | Humans | Amyloidosis - drug therapy | Familial Mediterranean Fever - drug therapy | Tubulin Modulators - therapeutic use | Chemical and Drug Induced Liver Injury - diagnosis | Delphi Technique | Interleukin 1 Receptor Antagonist Protein - therapeutic use | Anti-Inflammatory Agents, Non-Steroidal - therapeutic use | Familial Mediterranean Fever - diagnosis | Amyloidosis - complications | Chemical and Drug Induced Liver Injury - etiology | Antirheumatic Agents - therapeutic use | Practice | Care and treatment | Familial Mediterranean fever | Management | Rheumatologists | Patients | Proteins | Studies | Enzymes | Biological products | Disease | Compliance | Experts | Discussion groups | Agreements
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3. Full Text The Challenge of Treating Pulmonary Vasculitis in Behcet Disease: Two Pediatric Cases
by Demir, S and Sag, E and Akca, UK and Hazirolan, T and Bilginer, Y and Ozen, S
PEDIATRICS, ISSN 0031-4005, 08/2019, Volume 144, Issue 2, p. e20190162
Behcet disease (BD) is a multisystemic autoinflammatory disorder characterized by recurrent mucocutaneous, ocular, musculoskeletal, gastrointestinal, central... 
UVEITIS | EMBOLISM | PEDIATRICS | ARTERY ANEURYSMS | OUTCOME SURVEY | INVOLVEMENT | Behcet's syndrome | Pediatrics | Intravenous administration | Mortality | Lung diseases | Central nervous system | Methylprednisolone | Patients | Morbidity | Immunosuppressive agents | Hemoptysis | Cyclophosphamide | Vasculitis | Interferon | Diagnostic systems | Autoimmune diseases | Prednisolone
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4. Full Text 179. SECONDARY VASCULITIS DUE TO SINGLE GENE DEFECTS
by Özen, Seza and Bilginer, Yelda and Batu, Ezgi and Karadag, Omer and Alikasifoglu, Mehmet
Rheumatology, ISSN 1462-0324, 03/2019, Volume 58, Issue Supplement_2
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5. Full Text Renal amyloidosis in children
by Bilginer, Yelda and Akpolat, Tekin and Ozen, Seza
Pediatric Nephrology, ISSN 0931-041X, 8/2011, Volume 26, Issue 8, pp. 1215 - 1227
Renal amyloidosis is a detrimental disease caused by the deposition of amyloid fibrils. A child with renal amyloidosis may present with proteinuria or... 
Pediatrics | Autoinflammatory diseases | Renal amyloidosis | Children | Medicine & Public Health | PERIODIC SYNDROME | JUVENILE CHRONIC ARTHRITIS | CLINICAL-FEATURES | SECONDARY AMYLOIDOSIS | AA AMYLOIDOSIS | COLCHICINE TOXICITY | FAMILIAL MEDITERRANEAN FEVER | UROLOGY & NEPHROLOGY | PEDIATRICS | COLD AUTOINFLAMMATORY SYNDROME | SYSTEMIC AMYLOIDOSIS | AL AMYLOIDOSIS | Hereditary Autoinflammatory Diseases - complications | Humans | Kidney Diseases - diagnosis | Amyloidosis - diagnosis | Amyloidosis - etiology | Kidney Diseases - etiology | Child | Educational Review
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6. Full Text Anakinra treatment in macrophage activation syndrome: a single center experience and systemic review of literature
by Sönmez, Hafize Emine and Demir, Selcan and Bilginer, Yelda and Özen, Seza
Clinical Rheumatology, ISSN 0770-3198, 12/2018, Volume 37, Issue 12, pp. 3329 - 3335
Our aim was to report our experiences of pediatric macrophage activation syndrome (MAS) patients treated with anakinra and to review previous studies reporting... 
Medicine & Public Health | Anakinra | Rheumatology | Auto-inflammatory syndromes | Juvenile idiopathic arthritis | Macrophage activation syndrome | RHEUMATOID-ARTHRITIS | DIAGNOSIS | MULTICENTER | MUTATION | DISEASE | RHEUMATOLOGY | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | FEVER | Autoimmunity | Macrophage Activation Syndrome - drug therapy | Humans | Child, Preschool | Infant | Macrophage Activation Syndrome - complications | Male | Treatment Outcome | Inflammation | Remission Induction | Arthritis, Juvenile - drug therapy | Interleukin 1 Receptor Antagonist Protein - therapeutic use | Adolescent | Arthritis, Juvenile - complications | Patient Safety | Female | Child | Medicine, Experimental | Medical research | Arthritis | Macrophages | Literature reviews | Pediatrics | Cell activation | Acquired immune deficiency syndrome--AIDS | Interleukin 1 receptor antagonist | Interleukin 1 | Remission | Patients
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7. Full Text Anti-IL-1 treatment for secondary amyloidosis in an adolescent with FMF and Behçet's disease
by Bilginer, Yelda and Ayaz, Nuray Aktay and Ozen, Seza
Clinical Rheumatology, ISSN 0770-3198, 02/2010, Volume 29, Issue 2, pp. 209 - 210
Familial Mediterranean fever (FMF) is associated with mutations in the gene coding for pyrin which lead to accentuated innate immune responses resulting in... 
Amyloidosis | Behçet disease | Anakinra | FMF | Behcet disease | FAMILIAL-MEDITERRANEAN-FEVER | RHEUMATOLOGY | AUTOINFLAMMATORY SYNDROMES | Colchicine - therapeutic use | Humans | Behcet Syndrome - complications | Amyloidosis - diagnosis | Behcet Syndrome - drug therapy | Familial Mediterranean Fever - complications | Treatment Outcome | Amyloidosis - drug therapy | Familial Mediterranean Fever - drug therapy | Interleukin 1 Receptor Antagonist Protein - therapeutic use | Proteinuria - drug therapy | Adolescent | Female | Amyloidosis - etiology | Drug Therapy, Combination | Antirheumatic Agents - therapeutic use | Proteinuria - etiology | Medical colleges | Care and treatment | Albumin | Kidney diseases | Colchicine | Blood proteins
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8. Full Text Discontinuing colchicine in symptomatic carriers for MEFV (Mediterranean FeVer) variants
by Sönmez, Hafize Emine and Sönmez, Hafize Emine and Batu, Ezgi Deniz and Batu, Ezgi Deniz and Bilginer, Yelda and Bilginer, Yelda and Özen, Seza and Özen, Seza
Clinical Rheumatology, ISSN 0770-3198, 2/2017, Volume 36, Issue 2, pp. 421 - 425
Familial Mediterranean fever (FMF) is inherited autosomal recessively; however, heterozygotes may express FMF phenotype. We aimed to define the characteristics... 
Discontinuation | Medicine & Public Health | Rheumatology | Genetics | Heterozygote | Familial Mediterranean fever | Colchicine | DIAGNOSIS | MANAGEMENT | RECOMMENDATIONS | DISEASE | MUTATIONS | RHEUMATOLOGY | Recurrence | Tubulin Modulators - adverse effects | Follow-Up Studies | Colchicine - therapeutic use | Humans | Familial Mediterranean Fever - genetics | Child, Preschool | Infant | Male | Inflammation | Colchicine - adverse effects | Familial Mediterranean Fever - drug therapy | Tubulin Modulators - therapeutic use | Genetic Variation | Homozygote | Phenotype | Adolescent | Female | Retrospective Studies | Mutation | Child | Nucleotide sequencing | DNA sequencing
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9. Full Text Pleural effusion as an atypical presentation of Kawasaki disease: a case report and review of the literature
by Arslanoglu Aydin, Elif and Demir, Selcan and Aydin, Orkun and Bilginer, Yelda and Ozen, Seza
Journal of Medical Case Reports, ISSN 1752-1947, 12/2019, Volume 13, Issue 1, pp. 1 - 6
Abstract Background Kawasaki disease is an acute, febrile vasculitis of childhood that affects medium-sized arteries, predominantly the coronary arteries. It... 
Pleural effusion | Kawasaki disease | Pulmonary involvement
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10. Full Text Genetic testing for DADA2: How can we avoid missing patients?
by Sönmez, Hafize Emine and Batu, Ezgi Deniz and Taşkıran, Ekim Z and Alikaşifoğlu, Mehmet and Bilginer, Yelda and Özen, Seza
European Journal of Human Genetics, ISSN 1018-4813, 11/2018, Volume 26, Issue 11, pp. 1563 - 1565
BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | PHENOTYPE | ADA2 | VASCULOPATHY | DEFICIENCY | ADENOSINE-DEAMINASE 2 | Genetic screening | Correspondence
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11. Full Text Performance of the new 'Eurofever/PRINTO classification criteria' in FMF patients
by Sag, Erdal and Demirel, Dilara and Demir, Selcan and Atalay, Erdal and Akca, Ummusen and Bilginer, Yelda and Ozen, Seza
Seminars in arthritis and rheumatism, ISSN 0049-0172, 08/2019
Recently a new set of criteria proposed for the classification of auto inflammatory recurrent fevers including familial Mediterranean Fever (FMF). We aimed to... 
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12. Full Text HLA-DRB111 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis
by Ombrello, Michael J and Remmers, Elaine F and Tachmazidou, Ioanna and Grom, Alexei and Foell, Dirk and Haas, Johannes-Peter and Martini, Alberto and Gattorno, Marco and Özen, Seza and Prahalad, Sampath and Zeft, Anew S and Bohnsack, John F and Mellins, Elizabeth D and Ilowite, Norman T and Russo, Ricardo and Len, Claudio and Hilario, Maria Odete E and Oliveira, Sheila and Yeung, Rae S M and Rosenberg, Alan and Wedderburn, Lucy R and Anton, Jordi and Schwarz, Tobias and Hinks, Anne and Bilginer, Yelda and Park, Jane and Cobb, Joanna and Satorius, Colleen L and Han, Buhm and Baskin, Elizabeth and Signa, Sara and Duerr, Richard H and Achkar, J P and Kamboh, M Ilyas and Kaufman, Kenneth M and Kottyan, Leah C and Pinto, Dalila and Scherer, Stephen W and Alarcón-Riquelme, Marta E and Docampo, Elisa and Estivill, Xavier and Gül, Ahmet and de Bakker, Paul I W and Raychaudhuri, Soumya and Langefeld, Carl D and Thompson, Susan and Zeggini, Eleftheria and Thomson, Wendy and Kastner, Daniel L and Woo, Patricia and Int Childhood Arthritis Genetics and BSPAR Study Grp and BBOP Grp and Randomized Placebo Phase Study and CHARMS Grp and Childhood Arthritis Prospective Study (CAPS) Group and International Childhood Arthritis Genetics (INCHARGE) Consortium and British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group and Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators and Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group and Biologically Based Outcome Predictors in JIA (BBOP) Group
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2015, Volume 112, Issue 52, pp. 15970 - 15975
Systemic juvenile idiopathic arthritis (sJIA) is an often severe, potentially life-threatening childhood inflammatory disease, the pathophysiology of which is... 
Multicenter Study | Research Support, N.I.H., Intramural | Research Support, Non-U.S. Gov't | Journal Article | RHEUMATOID-ARTHRITIS | CELLS | ASSOCIATIONS | human leukocyte antigen | MULTIDISCIPLINARY SCIENCES | autoinflammation | CHILDREN | systemic juvenile idiopathic arthritis | PATHOGENESIS | Still's disease | MACROPHAGE ACTIVATION SYNDROME | DISEASE | GENES | ABATACEPT | Haplotypes | Genetic Predisposition to Disease - genetics | Meta-Analysis as Topic | HLA-DRB1 Chains - genetics | Gene Frequency | Humans | Risk Factors | Genotype | Arthritis, Juvenile - genetics | Linkage Disequilibrium | Polymorphism, Single Nucleotide | Histocompatibility Antigens Class II - genetics | Odds Ratio | Child | Histocompatibility antigens | Genetic variation | Juvenile arthritis | HLA histocompatibility antigens | Physiological aspects | Genetic aspects | Research | Risk factors | Biological Sciences | Still’s disease
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13. Full Text Autoinflammatory Diseases with Periodic Fevers
by Sag, Erdal and Bilginer, Yelda and Ozen, Seza
Current Rheumatology Reports, ISSN 1523-3774, 7/2017, Volume 19, Issue 7, pp. 1 - 10
One purpose of this review was to raise awareness for the new autoinflammatory syndromes. These diseases are increasingly recognized and are in the... 
Medicine & Public Health | Autoinflammatory syndromes | Periodic fever diseases | Rheumatology | CRITERIA | ACTIVATION | MANAGEMENT | MEVALONATE KINASE-DEFICIENCY | APHTHOUS STOMATITIS | RECEPTOR | RHEUMATOLOGY | PHARYNGITIS | FAMILIAL MEDITERRANEAN FEVER | RECOMMENDATIONS | MUTATIONS | Medicine, Experimental | Medical research | Children | Interleukins | Diseases
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14. Full Text A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet’s Disease
by Taskiran, Ekim Z and Sonmez, Hafize E and Kosukcu, Can and Tavukcuoglu, Ece and Yazici, Gozde and Esendagli, Gunes and Batu, Ezgi D and Kiper, Pelin O. S and Bilginer, Yelda and Alikasifoglu, Mehmet and Ozen, Seza
Journal of Clinical Immunology, ISSN 0271-9142, 1/2019, Volume 39, Issue 1, pp. 99 - 105
DNA ligase IV (LIG4) syndrome is a rare autosomal recessive disorder, manifesting with variable immune deficiency, growth failure, predisposition to... 
Medical Microbiology | Biomedicine | Immunology | Infectious Diseases | Internal Medicine | DNA ligase IV | Behçet’s disease | LIG4 syndrome | whole exome sequencing | Flow cytometry | Phenotypes | DNA ligase (ATP) | Propidium iodide | Leukocytes (mononuclear) | Malignancy | Mimicry | Hereditary diseases | Genotype & phenotype | Ionizing radiation | Peripheral blood mononuclear cells | Annexin V | Mutation | LIG4 protein | Apoptosis
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15. Full Text Periodic Fever, Aphthosis, Pharyngitis, and Adenitis Syndrome: Analysis of Patients From Two Geographic Areas
by Batu, Ezgi D and Kara Eroğlu, Fehime and Tsoukas, Paul and Hausmann, Jonathan S and Bilginer, Yelda and Kenna, Margaret A and Licameli, Greg R and Fuhlbrigge, Robert C and Özen, Seza and Dedeoğlu, Fatma
Arthritis Care & Research, ISSN 2151-464X, 12/2016, Volume 68, Issue 12, pp. 1859 - 1865
Objective Periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) syndrome is a periodic fever syndrome of childhood with an unknown etiology. Our aim was... 
PFAPA SYNDROME | FAMILIAL MEDITERRANEAN FEVER | GENE | PROCALCITONIN | FREQUENCY | SURGICAL OUTCOMES | STOMATITIS | RHEUMATOLOGY | AUTOINFLAMMATORY SYNDROMES | Humans | Child, Preschool | Male | Pharyngitis - genetics | Genetic Variation | Pharyngitis - diagnosis | Stomatitis, Aphthous - diagnosis | Stomatitis, Aphthous - genetics | Lymphadenitis - diagnosis | Female | Lymphadenitis - complications | Child | Boston | Severity of Illness Index | Pharyngitis - complications | Stomatitis, Aphthous - complications | Familial Mediterranean Fever - genetics | Familial Mediterranean Fever - complications | Hereditary Autoinflammatory Diseases - diagnosis | Lymphadenitis - genetics | Syndrome | Hereditary Autoinflammatory Diseases - complications | Phenotype | Turkey | Adolescent | Familial Mediterranean Fever - diagnosis | Hereditary Autoinflammatory Diseases - genetics | Headache | Pyrin protein | Etiology | Adenitis | Vomiting | Familial Mediterranean fever | Environmental factors | Nausea | Pharyngitis | Children
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16. Full Text ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes
by Akgun‐Dogan, Ozlem and Simsek‐Kiper, Pelin O and Taskiran, Ekim and Lissewski, Christina and Brinkmann, Julia and Schanze, Denny and Göçmen, Rahşan and Cagdas, Deniz and Bilginer, Yelda and Utine, Gülen E and Zenker, Martin and Ozen, Seza and Tezcan, İlhan and Alikasifoglu, Mehmet and Boduroğlu, Koray
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2019, Volume 179, Issue 12, pp. 2474 - 2480
Noonan syndrome‐like disorder with loose anagen hair (NS/LAH) is one of the RASopathies, a group of clinically related developmental disorders caused by... 
ADA2 | SHOC2 | DADA2 | consanguinity | Noonan syndrome‐like disorder with loose anagen hair | Hair | MAP kinase | Noonan's syndrome | Mutation | Fever
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