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ArticlesPeer ReviewedFull Text
AB1613 MEFV GENE TEST – WHO’S ORDERING THEM AND WHY?
Author / Creator:Shan, S. ; Mian, M.
Publisher:Kidlington: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2023-06, Vol.82 (Suppl 1), p.2041-2041
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Autoinflammation due to homozygous S208 MEFV mutation
Author / Creator:Hong, Ying ; Standing, Ariane S I ; Nanthapisal, Sira ; Sebire, Neil ; Jolles, Stephen ; Omoyinmi, Ebun ; Verstegen, Ruud HJ ; Brogan, Paul A ; Eleftheriou, Despina
Publisher:England: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2019-04, Vol.78 (4), p.571-573
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Association between MEFV Mutations M694V and M680I and Behçet’s Disease: A Meta-Analysis
Author / Creator:Wu, Ziyan ; Zhang, Shulan ; Li, Jing ; Chen, Si ; Li, Ping ; Sun, Fei ; Wen, Xiaoting ; Zheng, Wenjie ; Zhang, Fengchun ; Li, Yongzhe
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-07, Vol.10 (7), p.e0132704
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Single Nucleotide Polymorphisms of the MEFV Gene E148Q Are Highly Associated With Disease Phenotype in Crohn’s Disease
Author / Creator:Yamada, Satoshi ; Honzawa, Yusuke ; Yamamoto, Shuji ; Matsuura, Minoru ; Kitamoto, Hiroki ; Okabe, Makoto ; Kakiuchi, Nobuyuki ; Toyonaga, Takahiko ; Kobayashi, Taku ; Hibi, Toshifumi ; Seno, Hiroshi ; Nakase, Hiroshi
Publisher:US: Oxford University Press
Journal title:Inflammatory bowel diseases, 2024-06, Vol.30 (6), p.970-980
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Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease
Author / Creator:Kirino, Yohei ; Zhou, Qing ; Ishigatsubo, Yoshiaki ; Mizuki, Nobuhisa ; Tugal-Tutkun, Ilknur ; Seyahi, Emire ; Özyazgan, Yilmaz ; Ugurlu, Serdal ; Erer, Burak ; Abaci, Neslihan ; Ustek, Duran ; Meguro, Akira ; Ueda, Atsuhisa ; Takeno, Mitsuhiro ; Inoko, Hidetoshi ; Ombrello, Michael J. ; Satorius, Colleen L. ; Maskeri, Baishali ; Mullikin, James C. ; Sun, Hong-Wei ; Gutierrez-Cruz, Gustavo ; Kim, Yoonhee ; Wilson, Alexander F. ; Kastner, Daniel L. ; Gül, Ahmet ; Remmers, Elaine F.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2013-05, Vol.110 (20), p.8134-8139
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Clinical significance of MEFV gene variation R202Q
Author / Creator:Yaşar, Kandur ; Kocakap Derya Beyza Sayın ; Alpcan Aysegul ; Tursun Serkan
Publisher:Heidelberg: Springer Nature B.V
Journal title:Clinical rheumatology, 2022-01, Vol.41 (1), p.271-274
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Increased NLRP3-dependent interleukin 1β secretion in patients with familial Mediterranean fever: correlation with MEFV genotype
Author / Creator:Omenetti, Alessia ; Carta, Sonia ; Delfino, Laura ; Martini, Alberto ; Gattorno, Marco ; Rubartelli, Anna
Publisher:England
Journal title:Annals of the rheumatic diseases, 2014-02, Vol.73 (2), p.462-469
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MEFV and NLRP3 Inflammasome Expression Is Attributed to Immature Macrophages and Correlates with Serum Inflammatory Proteins in Crohn´s Disease Patients
Author / Creator:Gorreja, Frida ; Caër, Charles ; Rush, Stephen T. A. ; Forsskål, Sophia K. ; Härtlova, Anetta ; Magnusson, Maria K. ; Bexe Lindskog, Elinor ; Börjesson, Lars G. ; Block, Mattias ; Wick, Mary Jo
Publisher:New York: Springer US
Journal title:Inflammation, 2022-08, Vol.45 (4), p.1631-1650
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Familial Mediterranean fever without MEFV mutations: a case–control study
Author / Creator:Ben-Zvi, Ilan ; Herskovizh, Corinne ; Kukuy, Olga ; Kassel, Yonatan ; Grossman, Chagai ; Livneh, Avi
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-03, Vol.10 (1), p.34-34, Article 34
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On the Association Between the E148Q Single-nucleotide Polymorphism of the MEFV Gene and Crohn’s Disease
Author / Creator:Papadopoulos, Vasileios ; Skendros, Panagiotis
Publisher:US: Oxford University Press
Journal title:Inflammatory bowel diseases, 2024-11, Vol.30 (11), p.2242-2243
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Association of MEFV mutations and vascular involvement in Behcet’s disease: a study from Hatay, Turkey
Author / Creator:Serarslan, Gamze ; Cura, Sibel ; Kimyon, Gezmiş ; Üçgül, Gökhan ; Karadağ, Mehmet
Publisher:Warsaw: Termedia Publishing House
Journal title:Reumatologia, 2022-01, Vol.60 (3), p.220-223
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Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q MEFV Variant Potentially Pathogenetic in Unleashing Inflammation?
Author / Creator:Baggio, Chiara ; Oliviero, Francesca ; Galozzi, Paola ; Guidea, Irina ; Doria, Andrea ; Ramonda, Roberta ; Bindoli, Sara ; Sfriso, Paolo
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2025-12, Vol.45 (1), p.104, Article 104
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ArticlesPeer ReviewedFull Text
Genotyping of familial Mediterranean fever gene (MEFV)—Single nucleotide polymorphism—Comparison of Nanopore with conventional Sanger sequencing
Author / Creator:Schmidt, Jonas ; Berghaus, Sandro ; Blessing, Frithjof ; Herbeck, Holger ; Blessing, Josef ; Schierack, Peter ; Rödiger, Stefan ; Roggenbuck, Dirk ; Wenzel, Folker
Publisher:United States: Public Library of Science
Journal title:PloS one, 2022-03, Vol.17 (3), p.e0265622
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A novel seven-tier framework for the classification of MEFV missense variants using adaptive and rigid classifiers
Author / Creator:Alay, Mustafa Tarık
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2025-03, Vol.15 (1), p.9054-23, Article 9054
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MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease
Author / Creator:Stoffels, Monique ; Szperl, Agata ; Simon, Anna ; Netea, Mihai G ; Plantinga, Theo S ; van Deuren, Marcel ; Kamphuis, Sylvia ; Lachmann, Helen J ; Cuppen, Edwin ; Kloosterman, Wigard P ; Frenkel, Joost ; van Diemen, Cleo C ; Wijmenga, Cisca ; van Gijn, Marielle ; van der Meer, Jos W M
Publisher:England: Elsevier Limited
Journal title:Annals of the rheumatic diseases, 2014-02, Vol.73 (2), p.455-461
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Sweet's Syndrome in Patients with MDS and MEFV Mutations
Author / Creator:Jo, Tatsuro ; Horio, Kensuke ; Migita, Kiyoshi
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2015-02, Vol.372 (7), p.686-688
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MEFV gene mutations in neuro‐Behçet's disease and neuro‐Sweet disease
Author / Creator:Ishikawa, Hidehiro ; Shindo, Akihiro ; Ii, Yuichiro ; Kishida, Dai ; Niwa, Atsushi ; Nishiguchi, Yamato ; Matsuura, Keita ; Kato, Natsuko ; Mizutani, Akane ; Tachibana, Kei ; Hirata, Yoshinori ; Matsuyama, Hirofumi ; Ogawa‐Ito, Ai ; Taniguchi, Akira ; Tomimoto, Hidekazu
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-12, Vol.6 (12), p.2595-2600
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Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants
Author / Creator:Honda Yoshitaka ; Maeda Yukako ; Izawa Kazushi ; Shiba Takeshi ; Tanaka, Takayuki ; Haruna, Nakaseko ; Nishimura Keisuke ; Mukoyama Hiroki ; Isa-Nishitani Masahiko ; Miyamoto Takayuki ; Nihira Hiroshi ; Shibata Hirofumi ; Hiejima Eitaro ; Ohara Osamu ; Takita Junko ; Yasumi Takahiro ; Nishikomori Ryuta
Publisher:New York: Springer Nature B.V
Journal title:Journal of clinical immunology, 2021-08, Vol.41 (6), p.1187-1197
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Recurrent pain attacks during romiplostim treatment in a patient with ITP carrying a heterozygous MEFV mutation
Author / Creator:Kinoshita, Shiori ; Komatsu, Hirokazu ; Fujinami, Haruna ; Yoshida, Takashi ; Suzuki, Tomotaka ; Narita, Tomoko ; Ito, Asahi ; Ri, Masaki ; Kusumoto, Shigeru ; Iida, Shinsuke
Publisher:Tokyo: Springer Nature B.V
Journal title:International journal of hematology, 2023-02, Vol.117 (2), p.283-286
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Possible Association of Mutations in the MEFV Gene with the Intestinal Phenotype of Behçet’s Disease and Refractoriness to Treatment
Author / Creator:Furuta, Yoki ; Gushima, Ryosuke ; Naoe, Hideaki ; Honda, Munenori ; Tsuruta, Yuiko ; Nagaoka, Katsuya ; Watanabe, Takehisa ; Tateyama, Masakuni ; Fujimoto, Nahoko ; Hirata, Shinya ; Miyagawa, Eiko ; Sakata, Komei ; Mizuhashi, Yumiko ; Iwakura, Mikako ; Murai, Masayuki ; Matsuoka, Masao ; Komohara, Yoshihiro ; Tanaka, Yasuhito
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2023-04, Vol.12 (9), p.3131
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AB1613 MEFV GENE TEST – WHO’S ORDERING THEM AND WHY?

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Autoinflammation due to homozygous S208 MEFV mutation

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Association between MEFV Mutations M694V and M680I and Behçet’s Disease: A Meta-Analysis

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Single Nucleotide Polymorphisms of the MEFV Gene E148Q Are Highly Associated With Disease Phenotype in Crohn’s Disease

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Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease

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Clinical significance of MEFV gene variation R202Q

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Increased NLRP3-dependent interleukin 1β secretion in patients with familial Mediterranean fever: correlation with MEFV genotype

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MEFV and NLRP3 Inflammasome Expression Is Attributed to Immature Macrophages and Correlates with Serum Inflammatory Proteins in Crohn´s Disease Patients

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Familial Mediterranean fever without MEFV mutations: a case–control study

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On the Association Between the E148Q Single-nucleotide Polymorphism of the MEFV Gene and Crohn’s Disease

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Association of MEFV mutations and vascular involvement in Behcet’s disease: a study from Hatay, Turkey

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Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q MEFV Variant Potentially Pathogenetic in Unleashing Inflammation?

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Genotyping of familial Mediterranean fever gene (MEFV)—Single nucleotide polymorphism—Comparison of Nanopore with conventional Sanger sequencing

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A novel seven-tier framework for the classification of MEFV missense variants using adaptive and rigid classifiers

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MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

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Sweet's Syndrome in Patients with MDS and MEFV Mutations

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MEFV gene mutations in neuro‐Behçet's disease and neuro‐Sweet disease

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Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants

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Recurrent pain attacks during romiplostim treatment in a patient with ITP carrying a heterozygous MEFV mutation

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Possible Association of Mutations in the MEFV Gene with the Intestinal Phenotype of Behçet’s Disease and Refractoriness to Treatment

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