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1. Full Text EULAR/PReS standards and recommendations for the transitional care of young people with juvenile-onset rheumatic diseases
by Foster, Helen E and Minden, Kirsten and Clemente, Daniel and Leon, Leticia and McDonagh, Janet E and Kamphuis, Sylvia and Berggren, Karin and van Pelt, Philomine and Wouters, Carine and Waite-Jones, Jennifer and Tattersall, Rachel and Wyllie, Ruth and Stones, Simon R and Martini, Alberto and Constantin, Tamas and Schalm, Susanne and Fidanci, Berna and Erer, Burak and Dermikaya, Erkan and Ozen, Seza and Carmona, Loreto
Annals of the Rheumatic Diseases, ISSN 0003-4967, 04/2017, Volume 76, Issue 4, pp. 639 - 646
To develop standards and recommendations for transitional care for young people (YP) with juvenile-onset rheumatic and musculoskeletal diseases (jRMD). The... 
Multidisciplinary team-care | Quality Indicators | Juvenile Idiopathic Arthritis | Health services research | ADULT HEALTH-CARE | YOUTH | IDIOPATHIC ARTHRITIS | COHORT | GROWING-UP | POSITION PAPER | RHEUMATOLOGY | PEDIATRIC RHEUMATOLOGY | CHILDHOOD | READINESS | ADOLESCENT HEALTH | Humans | Documentation | Transition to Adult Care | Patient Care Team | Organizational Policy | Young Adult | Time Factors | Adolescent | Adult | Musculoskeletal Diseases - therapy | Child | Communication | Rheumatic Diseases - therapy | Practice guidelines (Medicine) | Care and treatment | Young adults | Health aspects | Analysis | Rheumatic diseases
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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 Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
by Zhou, Qing and Wang, Hongying and Schwartz, Daniella M and Stoffels, Monique and Hwan Park, Yong and Zhang, Yuan and Yang, Dan and Demirkaya, Erkan and Takeuchi, Masaki and Tsai, Wanxia Li and Lyons, Jonathan J and Yu, Xiaomin and Ouyang, Claudia and Chen, Celeste and Chin, David T and Zaal, Kristien and Chandrasekharappa, Settara C and Hanson, Eric P and Yu, Zhen and Mullikin, James C and Hasni, Sarfaraz A and Wertz, Ingrid E and Ombrello, Amanda K and Stone, Deborah L and Hoffmann, Patrycja and Jones, Anne and Barham, Beverly K and Leavis, Helen L and Van Royen-Kerkof, Annet and Sibley, Cailin and Batu, Ezgi D and Gül, Ahmet and Siegel, Richard M and Boehm, Manfred and Milner, Joshua D and Ozen, Seza and Gadina, Massimo and Chae, JaeJin and Laxer, Ronald M and Kastner, Daniel L and Aksentijevich, Ivona
Nature Genetics, ISSN 1061-4036, 12/2015, Volume 48, Issue 1, pp. 67 - 73
Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity. Herein we describe a new disease caused by high-penetrance... 
RNA-Binding Proteins - genetics | Humans | Male | NF-kappa B - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | I-kappa B Proteins - metabolism | I-kappa B Proteins - genetics | DNA-Binding Proteins - metabolism | Nuclear Pore Complex Proteins - genetics | Hereditary Autoinflammatory Diseases - metabolism | I-kappa B Kinase - metabolism | Female | Tumor Necrosis Factor alpha-Induced Protein 3 | TNF Receptor-Associated Factor 6 - genetics | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Haploinsufficiency - genetics | NF-KappaB Inhibitor alpha | Nuclear Pore Complex Proteins - metabolism | Nuclear Proteins - metabolism | I-kappa B Kinase - genetics | DNA-Binding Proteins - genetics | NF-kappa B - genetics | Pedigree | Age of Onset | TNF Receptor-Associated Factor 6 - metabolism | Mutation | RNA-Binding Proteins - metabolism | Hereditary Autoinflammatory Diseases - genetics | Studies | Tumor necrosis factor-TNF | Kinases
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4. Full Text What is the best acute phase reactant for familial Mediterranean fever follow-up and its role in the prediction of complications? A systematic review
by Erer, Burak and Erer, Burak and Demirkaya, Erkan and Demirkaya, Erkan and Ozen, Seza and Ozen, Seza and Kallinich, Tilmann and Kallinich, Tilmann
Rheumatology International, ISSN 0172-8172, 4/2016, Volume 36, Issue 4, pp. 483 - 487
The most dreaded complication of familial Mediterranean fever (FMF) is amyloidosis; controversy exists as to what acute phase reactant (APR) should be... 
Diagnostic studies | Medicine & Public Health | Rheumatology | Systematic review | Familial Mediterranean fever | Amyloidosis | Acute phase reactants | Validation studies | Familial Mediterranean Fever - blood | Predictive Value of Tests | Reproducibility of Results | Prognosis | Humans | Risk Factors | Amyloidosis - diagnosis | Familial Mediterranean Fever - complications | Acute-Phase Proteins - analysis | Amyloidosis - etiology | Familial Mediterranean Fever - diagnosis | Biomarkers - blood | Complications and side effects | C-reactive protein | Medical examination | Analysis | Genetic aspects | Blood
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5. Full Text Clinical Features, Treatment, and Outcome of Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A Multinational, Multicenter Study of 362 Patients
by Minoia, Francesca and Davì, Sergio and Horne, AnnaCarin and Demirkaya, Erkan and Bovis, Francesca and Li, Caifeng and Lehmberg, Kai and Weitzman, Sheila and Insalaco, Antonella and Wouters, Carine and Shenoi, Susan and Espada, Graciela and Ozen, Seza and Anton, Jordi and Khubchandani, Raju and Russo, Ricardo and Pal, Priyankar and Kasapcopur, Ozgur and Miettunen, Paivi and Maritsi, Despoina and Merino, Rosa and Shakoory, Bita and Alessio, Maria and Chasnyk, Vyacheslav and Sanner, Helga and Gao, Yi‐Jin and Huasong, Zeng and Kitoh, Toshiyuki and Avcin, Tadej and Fischbach, Michel and Frosch, Michael and Grom, Alexei and Huber, Adam and Jelusic, Marija and Sawhney, Sujata and Uziel, Yosef and Ruperto, Nicolino and Martini, Alberto and Cron, Randy Q and Ravelli, Angelo and Pediat Rheumatology Collaborative and Histiocyte Soc and Childhood Arthrit Rheumatology Res and Pediat Rheumatology Int Trials Org and Pediatric Rheumatology Collaborative Study Group and Pediatric Rheumatology International Trials Organization and Childhood Arthritis and Rheumatology Research Alliance and Histiocyte Society
Arthritis & Rheumatology, ISSN 2326-5191, 11/2014, Volume 66, Issue 11, pp. 3160 - 3169
Objective To describe the clinical, laboratory, and histopathologic features, current treatment, and outcome of patients with macrophage activation syndrome... 
RHEUMATOID-ARTHRITIS | DIAGNOSIS | DISEASE | GUIDELINES | LUPUS-ERYTHEMATOSUS | DISORDERS | ANAKINRA | RHEUMATOLOGY | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | CHILDREN | CYCLOSPORINE | Macrophage Activation Syndrome - mortality | Prevalence | Macrophage Activation Syndrome - drug therapy | Humans | Child, Preschool | Etoposide - therapeutic use | Intensive Care Units - statistics & numerical data | Male | Survival Rate | Treatment Outcome | International Cooperation | Adrenal Cortex Hormones - therapeutic use | Fever - epidemiology | Macrophage Activation Syndrome - etiology | Cyclosporine - therapeutic use | Hepatomegaly - epidemiology | Splenomegaly - epidemiology | Arthritis, Juvenile - complications | Female | Retrospective Studies | Child | Biological Products - therapeutic use | Cohort Studies | Laboratories | Patients | Mortality
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6. Full Text Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease
by Qing Zhou and Xiaomin Yu and Erkan Demirkaya and Natalie Deuitch and Deborah Stone and Wanxia Li Tsai and Hye Sun Kuehn and Hongying Wang and Dan Yang and Yong Hwan Park and Amanda K. Ombrello and Mary Blake and Tina Romeo and Elaine F. Remmers and Jae Jin Chae and James C. Mullikin and Ferhat Güzel and Joshua D. Milner and Manfred Boehm and Sergio D. Rosenzweig and Massimo Gadina and Steven B. Welch and Seza Özen and Rezan Topaloglu and Mario Abinun and Daniel L. Kastner and Ivona Aksentijevich
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2016, Volume 113, Issue 36, pp. 10127 - 10132
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by... 
Autoinflammatory disease | Cytokines | Nf-κb pathway | Linear deubiquitinase | OTULIN | ACTIVATION | AMYLOPECTINOSIS | NF-kappa B pathway | UBIQUITIN | MULTIDISCIPLINARY SCIENCES | linear deubiquitinase | ASSEMBLY COMPLEX | CELL-DEATH | HOIP | SHARPIN | autoinflammatory disease | INFLAMMATION | LUBAC DEFICIENCY | cytokines | IMMUNODEFICIENCY | Fibroblasts - enzymology | Humans | NF-kappa B - immunology | Child, Preschool | Male | Fever - physiopathology | Leukocytes, Mononuclear - immunology | HEK293 Cells | Female | Child | Cytokines - genetics | Failure to Thrive - physiopathology | Hereditary Autoinflammatory Diseases - pathology | Cytokines - immunology | Dermatitis - physiopathology | Signal Transduction | Hereditary Autoinflammatory Diseases - enzymology | Gene Expression Regulation | Ubiquitin - genetics | Endopeptidases - deficiency | Hereditary Autoinflammatory Diseases - diagnosis | Fibroblasts - pathology | Endopeptidases - immunology | Leukocytes, Mononuclear - pathology | Endopeptidases - genetics | NF-kappa B - genetics | Pedigree | Age of Onset | Alleles | Fibroblasts - immunology | Leukocytes, Mononuclear - enzymology | Panniculitis - physiopathology | Consanguinity | Mutation | Ubiquitin - immunology | Hereditary Autoinflammatory Diseases - genetics | Allelomorphism | Genetic aspects | Gene mutations | Autoimmune diseases | Health aspects | Biological Sciences | NF-κB pathway
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7. Full Text Response to: ‘The country of residence affects the phenotype of familial Mediterranean fever? Is it real or a selection bias?’ by Korkmaz
by Demirkaya, Erkan and Ozen, Seza
Annals of the Rheumatic Diseases, ISSN 0003-4967, 08/2014, Volume 73, Issue 8, pp. e53 - E53
RHEUMATOLOGY | FMF | DISEASE | CHILDREN | Female | Male | Gene-Environment Interaction | Humans | Familial Mediterranean Fever - genetics
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8. Full Text FGF-23 and vascular dysfunction in patients with stage 3 and 4 chronic kidney disease
by Yilmaz, Mahmut I and Sonmez, Alper and Saglam, Mutlu and Yaman, Halil and Kilic, Selim and Demirkaya, Erkan and Eyileten, Tayfun and Caglar, Kayser and Oguz, Yusuf and Vural, Abdulgaffar and Yenicesu, Mujdat and Zoccali, Carmine
Kidney International, ISSN 0085-2538, 10/2010, Volume 78, Issue 7, pp. 679 - 685
Studies in animals show that fibroblast growth factor (FGF)-23 interferes with vascular reactivity induced by the nitric oxide (NO) system. To investigate the... 
endothelium | chronic kidney disease | nitric oxide | PREDICTS PROGRESSION | ENDOTHELIAL DYSFUNCTION | CARDIOVASCULAR EVENTS | RENAL-DISEASE | FLOW-MEDIATED DILATION | EUROPEAN-SOCIETY | BRACHIAL-ARTERY | WORKING GROUP | INSULIN-RESISTANCE | GROWTH-FACTOR 23 | UROLOGY & NEPHROLOGY | Kidney Diseases - physiopathology | Arginine - physiology | Multivariate Analysis | Humans | Middle Aged | Risk Factors | Linear Models | Male | Nitric Oxide - physiology | Arginine - analogs & derivatives | Vasodilation | Forearm - blood supply | Adult | Female | Chronic Disease | Fibroblast Growth Factors - physiology
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9. Full Text Development and initial validation of international severity scoring system for familial Mediterranean fever (ISSF)
by Demirkaya, Erkan and Acikel, Cengizhan and Hashkes, Philip and Gattorno, Marco and Gul, Ahmet and Ozdogan, Huri and Turker, Turker and Karadag, Omer and Livneh, Avi and Ben-Chetrit, Eldad and Ozen, Seza and FMF Arthrit Vasculitis & Orphan Di and FMF Arthritis Vasculitis and Orphan disease Research in pediatric rheumatology (FAVOR)
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2016, Volume 75, Issue 6, pp. 1051 - 1056
ObjectiveTo develop widely accepted international severity score for children and adult patients with familial Mediterranean fever (FMF) that can be easily... 
COLCHICINE THERAPY | OMERACT FILTER | TRIAL | DIAGNOSIS | GERMANY | DISEASE SEVERITY | DOUBLE-BLIND | PEDIATRIC FMF | MONOGENIC DISEASE | RHEUMATOLOGY | CHILDREN | Severity of Illness Index | Humans | Child, Preschool | Infant | Male | Young Adult | Delphi Technique | Adolescent | Adult | Female | ROC Curve | Familial Mediterranean Fever - diagnosis | Child | Decision-making | Usage | Care and treatment | Analysis | Rheumatic diseases | Clinical trials | Children | Health aspects
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10. Full Text Treating juvenile idiopathic arthritis to target: recommendations of an international task force
by Ravelli, Angelo and Consolaro, Alessandro and Horneff, Gerd and Laxer, Ronald M and Lovell, Daniel J and Wulffraat, Nico M and Akikusa, Jonathan D and Al-Mayouf, Sulaiman M and Antón, Jordi and Avcin, Tadej and Berard, Roberta A and Beresford, Michael W and Burgos-Vargas, Ruben and Cimaz, Rolando and De Benedetti, Fabrizio and Demirkaya, Erkan and Foell, Dirk and Itoh, Yasuhiko and Lahdenne, Pekka and Morgan, Esi M and Quartier, Pierre and Ruperto, Nicolino and Russo, Ricardo and Saad-Magalhães, Claudia and Sawhney, Sujata and Scott, Christiaan and Shenoi, Susan and Swart, Joost F and Uziel, Yosef and Vastert, Sebastiaan J and Smolen, Josef S
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2018, Volume 77, Issue 6, pp. 819 - 828
Recent therapeutic advances in juvenile idiopathic arthritis (JIA) have made remission an achievable goal for most patients. Reaching this target leads to... 
treatment | Immunology | Rheumatology | Biochemistry, Genetics and Molecular Biology(all) | outcomes research | juvenile idiopathic arthritis | Immunology and Allergy | CLINICAL REMISSION | ACTIVITY STATES | DEVELOPING STANDARDS | INTERLEUKIN-1 RECEPTOR ANTAGONIST | SELECT CATEGORIES | RHEUMATOLOGY | OF-RHEUMATOLOGY RECOMMENDATIONS | DOUBLE-BLIND | INACTIVE DISEASE | MINIMAL DISEASE-ACTIVITY | DEFINING CRITERIA | Severity of Illness Index | Evidence-Based Medicine - methods | Humans | Disease Management | Remission Induction | Advisory Committees | Antirheumatic Agents - therapeutic use | Arthritis, Juvenile - drug therapy | Literature reviews | Clinical trials | Remission | Arthritis | Glucocorticoids | Patients
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