TY - STD TI - A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25–31. ID - ref1 ER - TY - STD TI - Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell. 1997;90(4):797–807. ID - ref2 ER - TY - JOUR AU - Masters, S. L. AU - Simon, A. AU - Aksentijevich, I. AU - Kastner, D. L. PY - 2009 DA - 2009// TI - Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*) JO - Annu Rev Immunol VL - 27 UR - https://doi.org/10.1146/annurev.immunol.25.022106.141627 DO - 10.1146/annurev.immunol.25.022106.141627 ID - Masters2009 ER - TY - STD TI - Infeveres. The registry of Hereditary Auto-inflammatory Disorders Mutations. [cited 2013 15 Nov]; Available from: http://fmf.igh.cnrs.fr/ISSAID/infevers/index.php. UR - http://fmf.igh.cnrs.fr/ISSAID/infevers/index.php ID - ref4 ER - TY - JOUR AU - Ozen, S. PY - 2009 DA - 2009// TI - Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? JO - Arthritis Rheum VL - 60 UR - https://doi.org/10.1002/art.24565 DO - 10.1002/art.24565 ID - Ozen2009 ER - TY - JOUR AU - Touitou, I. PY - 2013 DA - 2013// TI - Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature JO - J Med Genet VL - 50 UR - https://doi.org/10.1136/jmedgenet-2013-101577 DO - 10.1136/jmedgenet-2013-101577 ID - Touitou2013 ER - TY - JOUR AU - Booty, M. G. AU - Chae, J. J. AU - Masters, S. L. AU - Remmers, E. F. AU - Barham, B. AU - Le, J. M. PY - 2009 DA - 2009// TI - Familial Mediterranean fever with a single MEFV mutation: where is the second hit? JO - Arthritis Rheum VL - 60 UR - https://doi.org/10.1002/art.24569 DO - 10.1002/art.24569 ID - Booty2009 ER - TY - JOUR AU - Marek-Yagel, D. AU - Berkun, Y. AU - Padeh, S. AU - Abu, A. AU - Reznik-Wolf, H. AU - Livneh, A. PY - 2009 DA - 2009// TI - Clinical disease among patients heterozygous for familial Mediterranean fever JO - Arthritis Rheum VL - 60 UR - https://doi.org/10.1002/art.24570 DO - 10.1002/art.24570 ID - Marek-Yagel2009 ER - TY - JOUR AU - Livneh, A. AU - Langevitz, P. AU - Zemer, D. AU - Zaks, N. AU - Kees, S. AU - Lidar, T. PY - 1997 DA - 1997// TI - Criteria for the diagnosis of familial Mediterranean fever JO - Arthritis Rheum VL - 40 UR - https://doi.org/10.1002/art.1780401023 DO - 10.1002/art.1780401023 ID - Livneh1997 ER - TY - JOUR AU - Padeh, S. AU - Shinar, Y. AU - Pras, E. AU - Zemer, D. AU - Langevitz, P. AU - Pras, M. PY - 2003 DA - 2003// TI - Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever JO - J Rheumatol VL - 30 ID - Padeh2003 ER - TY - JOUR AU - Cazeneuve, C. AU - Hovannesyan, Z. AU - Genevieve, D. AU - Hayrapetyan, H. AU - Papin, S. AU - Girodon-Boulandet, E. PY - 2003 DA - 2003// TI - Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations JO - Arthritis Rheum VL - 48 UR - https://doi.org/10.1002/art.11102 DO - 10.1002/art.11102 ID - Cazeneuve2003 ER - TY - JOUR AU - Federici, S. AU - Calcagno, G. AU - Finetti, M. AU - Gallizzi, R. AU - Meini, A. AU - Vitale, A. PY - 2012 DA - 2012// TI - Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population JO - Ann Rheum Dis VL - 71 UR - https://doi.org/10.1136/annrheumdis-2011-200977 DO - 10.1136/annrheumdis-2011-200977 ID - Federici2012 ER - TY - JOUR AU - Giaglis, S. AU - Papadopoulos, V. AU - Kambas, K. AU - Doumas, M. AU - Tsironidou, V. AU - Rafail, S. PY - 2007 DA - 2007// TI - MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever JO - Clin Genet VL - 71 UR - https://doi.org/10.1111/j.1399-0004.2007.00789.x DO - 10.1111/j.1399-0004.2007.00789.x ID - Giaglis2007 ER - TY - JOUR AU - Ozturk, C. AU - Halicioglu, O. AU - Coker, I. AU - Gulez, N. AU - Sutcuoglu, S. AU - Karaca, N. PY - 2012 DA - 2012// TI - Association of clinical and genetical features in FMF with focus on MEFV strip assay sensitivity in 452 children from western Anatolia, Turkey JO - Clin Rheumatol. VL - 31 UR - https://doi.org/10.1007/s10067-011-1876-1 DO - 10.1007/s10067-011-1876-1 ID - Ozturk2012 ER - TY - JOUR AU - Wekell, P. AU - Friman, V. AU - Balci-Peynircioglu, B. AU - Yilmaz, E. AU - Fasth, A. AU - Berg, S. PY - 2013 DA - 2013// TI - Familial Mediterranean fever – an increasingly important childhood disease in Sweden JO - Acta Paediatr VL - 102 UR - https://doi.org/10.1111/apa.12075 DO - 10.1111/apa.12075 ID - Wekell2013 ER - TY - JOUR AU - Kogan, A. AU - Shinar, Y. AU - Lidar, M. AU - Revivo, A. AU - Langevitz, P. AU - Padeh, S. PY - 2001 DA - 2001// TI - Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state JO - Am J Med Genet VL - 102 UR - https://doi.org/10.1002/ajmg.1438 DO - 10.1002/ajmg.1438 ID - Kogan2001 ER - TY - JOUR AU - Kilim, Y. AU - Magal, N. AU - Shohat, M. PY - 2011 DA - 2011// TI - Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever JO - Isr Med Assoc J VL - 13 ID - Kilim2011 ER - TY - JOUR AU - Mor, A. AU - Shinar, Y. AU - Zaks, N. AU - Langevitz, P. AU - Chetrit, A. AU - Shtrasburg, S. PY - 2005 DA - 2005// TI - Evaluation of disease severity in familial Mediterranean fever JO - Semin Arthritis Rheum VL - 35 UR - https://doi.org/10.1016/j.semarthrit.2005.02.002 DO - 10.1016/j.semarthrit.2005.02.002 ID - Mor2005 ER - TY - JOUR AU - Zaks, N. AU - Shinar, Y. AU - Padeh, S. AU - Lidar, M. AU - Mor, A. AU - Tokov, I. PY - 2003 DA - 2003// TI - Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever JO - Isr Med Assoc J VL - 5 ID - Zaks2003 ER - TY - JOUR AU - Touitou, I. AU - Sarkisian, T. AU - Medlej-Hashim, M. AU - Tunca, M. AU - Livneh, A. AU - Cattan, D. PY - 2007 DA - 2007// TI - Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever JO - Arthritis Rheum VL - 56 UR - https://doi.org/10.1002/art.22507 DO - 10.1002/art.22507 ID - Touitou2007 ER - TY - JOUR AU - Hentgen, V. AU - Grateau, G. AU - Stankovic-Stojanovic, K. AU - Amselem, S. AU - Jeru, I. PY - 2013 DA - 2013// TI - Familial Mediterranean fever in heterozygotes: are we able to accurately diagnose the disease in very young children? JO - Arthritis Rheum VL - 65 UR - https://doi.org/10.1002/art.37935 DO - 10.1002/art.37935 ID - Hentgen2013 ER - TY - JOUR AU - Jeske, M. AU - Lohse, P. AU - Kallinich, T. AU - Berger, T. AU - Rietschel, C. AU - Holzinger, D. PY - 2013 DA - 2013// TI - Genotype-phenotype and genotype-origin correlations in children with Mediterranean fever in Germany - an AID-Net study JO - Klin Padiatr VL - 225 UR - https://doi.org/10.1055/s-0033-1355372 DO - 10.1055/s-0033-1355372 ID - Jeske2013 ER - TY - JOUR AU - Kone-Paut, I. AU - Hentgen, V. AU - Guillaume-Czitrom, S. AU - Compeyrot-Lacassagne, S. AU - Tran, T. A. AU - Touitou, I. PY - 2009 DA - 2009// TI - The clinical spectrum of 94 patients carrying a single mutated MEFV allele JO - Rheumatology (Oxford) VL - 48 UR - https://doi.org/10.1093/rheumatology/kep121 DO - 10.1093/rheumatology/kep121 ID - Kone-Paut2009 ER - TY - JOUR AU - Lidar, M. AU - Kedem, R. AU - Berkun, Y. AU - Langevitz, P. AU - Livneh, A. PY - 2010 DA - 2010// TI - Familial Mediterranean fever in Ashkenazi Jews: the mild end of the clinical spectrum JO - J Rheumatol VL - 37 UR - https://doi.org/10.3899/jrheum.090401 DO - 10.3899/jrheum.090401 ID - Lidar2010 ER - TY - JOUR AU - Pras, E. AU - Livneh, A. AU - Balow, J. E. AU - Kastner, D. L. AU - Pras, M. AU - Langevitz, P. PY - 1998 DA - 1998// TI - Clinical differences between North African and Iraqi Jews with familial Mediterranean fever JO - Am J Med Genet VL - 75 UR - https://doi.org/3.0.CO;2-R DO - 3.0.CO;2-R ID - Pras1998 ER - TY - JOUR AU - Tamir, N. AU - Langevitz, P. AU - Zemer, D. AU - Pras, E. AU - Shinar, Y. AU - Padeh, S. PY - 1999 DA - 1999// TI - Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics JO - Am J Med Genet VL - 87 UR - https://doi.org/3.0.CO;2-B DO - 3.0.CO;2-B ID - Tamir1999 ER - TY - JOUR AU - Ben-Zvi, I. AU - Krichely-Vachdi, T. AU - Feld, O. AU - Lidar, M. AU - Kivity, S. AU - Livneh, A. PY - 2014 DA - 2014// TI - Colchicine-free remission in familial Mediterranean fever: featuring a unique subset of the disease-a case control study JO - Orphanet J Rare Dis VL - 9 UR - https://doi.org/10.1186/1750-1172-9-3 DO - 10.1186/1750-1172-9-3 ID - Ben-Zvi2014 ER - TY - JOUR AU - Ben-Zvi, I. AU - Livneh, A. PY - 2011 DA - 2011// TI - Chronic inflammation in FMF: markers, risk factors, outcomes and therapy JO - Nat Rev Rheumatol VL - 7 UR - https://doi.org/10.1038/nrrheum.2010.181 DO - 10.1038/nrrheum.2010.181 ID - Ben-Zvi2011 ER - TY - JOUR AU - Nakagawa, K. AU - Gonzalez-Roca, E. AU - Souto, A. AU - Kawai, T. AU - Umebayashi, H. AU - Campistol, J. M. PY - 2015 DA - 2015// TI - Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes JO - Ann Rheum Dis. VL - 74 UR - https://doi.org/10.1136/annrheumdis-2013-204361 DO - 10.1136/annrheumdis-2013-204361 ID - Nakagawa2015 ER - TY - JOUR AU - Tanaka, N. AU - Izawa, K. AU - Saito, M. K. AU - Sakuma, M. AU - Oshima, K. AU - Ohara, O. PY - 2011 DA - 2011// TI - High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study JO - Arthritis Rheum VL - 63 UR - https://doi.org/10.1002/art.30512 DO - 10.1002/art.30512 ID - Tanaka2011 ER -