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Investigation of the Inflammatory Cell Migration Process in Familial Mediterranean Fever

Ulum, YZ Akkaya; Avci, E; Batu, ED; Karadag, O; Ozen, Seza; Purali, N; Yilmaz, E; Peynircioglu, B Balci (2015)

Mefv Gene Methylation Pattern Analysis In Familial Mediterranean Fever Patients With Altered Expression Levels

Ulum, YZ Akkaya; Peynircioglu, B Balci; Batu, Ed; Guler, C; Karadag, O; Ertenli, Ai; Kiraz, S; Ozen, Seza; Yilmaz, E (2015)

IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis

Arthur, Victoria L.; Shuldiner, Emily; Remmers, Elaine F.; Hinks, Anne; Grom, Alexei A.; Foell, Dirk; Martini, Alberto; Gattorno, Marco; Ozen, Seza; Prahalad, Sampath; Zeft, Andrew S.; Bohnsack, John F.; Ilowite, Norman T.; Mellins, Elizabeth D.; Russo, Ricardo; Len, Claudio; Oliveira, Sheila; Yeung, Rae S. M.; Rosenberg, Alan M.; Wedderburn, Lucy R.; Anton, Jordi; Haas, Johannes-Peter; Roesen-Wolff, Angela; Minden, Kirsten; Szymanski, Ann Marie; Thomson, Wendy; Kastner, Daniel L.; Woo, Patricia; Ombrello, Michael J. (Wiley, 2018)

Objective. To determine whether systemic juvenile idiopathic arthritis (JIA) susceptibility loci that were identified by candidate gene studies demonstrate association with systemic JIA in the largest study population ...

Clinical Features Of Childhood Granulomatosis With Polyangiitis (Wegener’S Granulomatosis)

Bohm, Marek; Gonzalez Fernandez, Maria Isabel; Ozen, Seza; Pistorio, Angela; Dolezalova, Pavla; Brogan, Paul; Barbano, Giancarlo; Sengler, Claudia; Klein-Gitelman, Marisa; Quartier, Pierre; Fasth, Anders; Herlin, Troels; Terreri, Maria Teresa R A; Nielsen, Susan; van Rossum, Marion A J; Avcin, Tadej; Castell, Esteban Rodolfo; Foeldvari, Ivan; Foell, Dirk; Kondi, Anuela; Koné-Paut, Isabelle; Kuester, Rolf-Michael; Michels, Hartmut; Wulffraat, Nico; Amer, Halima Ben; Malattia, Clara; Martini, Alberto; Ruperto, Nicolino (2014)

Background Granulomatosis with polyangiitis (GPA), formerly known as Wegener’s granulomatosis (WG), belongs to the group of ANCA-associated necrotizing vasculitides. This study describes the clinical picture of the disease ...

Evidence Based Recommendations For Diagnosis And Management Of Mevalonate Kinase Defiency (Mkd)

Haar, Nienke Ter; Jeyaratnam, Jerold; Anton-Lopez, Jordi; Galeotti, Caroline; Barron, Karyl; Brogan, Paul; Cantarini, Luca; Gattorno, Marco; Grateau, Gilles; Hentgen, Veronique; Hofer, Michael; Kallinich, Tilmann; Kone-Paut, Isabelle; Kümmerle-Deschner, Jasmin; Lachmann, Helen; Ozdogan, Huri; Ozen, Seza; Uziel, Yosef; Wouters, Carine; Feldman, Brian; Vastert, Bas; Wulffraat, Nico; Simon, Anna; Frenkel, Joost (2014)

Evidence Based Recommendations For Diagnosis And Treatment Of Cryopyrin-Associated Periodic Syndromes (Caps)

Haar, Nienke Ter; Oswald, Marlen; Cantarini, Luca; Gattorno, Marco; Hofer, Michael; Kone-Paut, Isabelle; Anton-Lopez, Jordi; Barron, Karyl; Brogan, Paul; Frenkel, Joost; Galeotti, Caroline; Grateau, Gilles; Hentgen, Veronique; Kallinich, Tilmann; Lachmann, Helen; Ozdogan, Huri; Ozen, Seza; Simon, Anna; Uziel, Yosef; Wouters, Carine; Feldman, Brian; Vastert, Bas; Wulffraat, Nico; Benseler, Susanne; Kümmerle-Deschner, Jasmin (2014)

Evidence Based Recommendations For Diagnosis And Treatment Of Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome (Traps)

Haar, Nienke Ter; Brogan, Paul; Grateau, Gilles; Anton-Lopez, Jordi; Barron, Karyl; Cantarini, Luca; Frenkel, Joost; Galeotti, Caroline; Hentgen, Veronique; Hofer, Michael; Kallinich, Tilmann; Kone-Paut, Isabelle; Kümmerle-Deschner, Jasmin; Ozdogan, Huri; Ozen, Seza; Simon, Anna; Uziel, Yosef; Wouters, Carine; Feldman, Brian; Vastert, Bas; Wulffraat, Nico; Lachmann, Helen; Gattorno, Marco (2014)

Evidence Based Recommendations For Genetic Diagnosis Of Familial Mediterranean Fever

Giancane, Gabriella; Haar, Nienke Ter; Wulffraat, Nico; Vastert, Bas; Barron, Karyl; Hentgen, Veronique; Tilmann, Kallinich; Ozdogan, Huri; Lopez, Jordi Anton; Brogan, Paul; Cantarini, Luca; Frenkel, Joost; Galeotti, Caroline; Gattorno, Marco; Grateau, Gilles; Hofer, Michael; Kone-Paut, Isabelle; Kuemmerle-Deschner, Jasmin; Lachmann, Helen; Simon, Anna; Feldman, Brian; Uziel, Yosef; Ozen, Seza (2014)

2012 Revised International Chapel Hill Consensus Conference Nomenclature Of Vasculitides

Jennette, J. C.; Falk, R. J.; Bacon, P. A.; Basu, N.; Cid, M. C.; Ferrario, F.; Flores-Suarez, L. F.; Gross, W. L.; Guillevin, L.; Hagen, E. C.; Hoffman, G. S.; Jayne, D. R.; Kallenberg, C. G. M.; Lamprecht, P.; Langford, C. A.; Luqmani, R. A.; Mahr, A. D.; Matteson, E. L.; Merkel, P. A.; Ozen, Seza; Pusey, C. D.; Rasmussen, N.; Rees, A. J.; Scott, D. G. I.; Specks, U.; Stone, J. H.; Takahashi, K.; Watts, R. A. (Wiley-Blackwell, 2013)

Biallelic Hypomorphic Mutations In A Linear Deubiquitinase Define Otulipenia, An Early-Onset Autoinflammatory Disease

Zhou, Qing; Yu, Xiaomin; Demirkaya, Erkan; Deuitch, Natalie; Stone, Deborah; Tsai, Wanxia Li; Kuehn, Hye Sun; Wang, Hongying; Yang, Dan; Park, Yong Hwan; Ombrello, Amanda K.; Blake, Mary; Romeo, Tina; Remmers, Elaine F.; Chae, Jae Jin; Mullikin, James C.; Guzel, Ferhat; Milner, Joshua D.; Boehm, Manfred; Rosenzweig, Sergio D.; Gadina, Massimo; Welch, Steven B.; Ozen, Seza; Topaloglu, Rezan; Abinun, Mario; Kastner, Daniel L.; Aksentijevich, Ivona (Natl Acad Sciences, 2016)

Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a ...

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