Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Syndrome and MVK[original query] |
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| Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. European journal of human genetics : EJHG 2003 Feb 11 (2): 196-200. Houten Sander M, van Woerden Christiaan S, Wijburg Frits A, Wanders Ronald J A, Waterham Hans |
| Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. Rheumatology (Oxford, England) 2006 Mar 45 (3): 269-73. Simon A, van der Meer J W M, Vesely R, Myrdal U, Yoshimura K, Duys P, Drenth J P H, |
| Autoinflammatory gene mutations in Behçet's disease. Annals of the rheumatic diseases 2007 Jun 66 (6): 832-4. Koné-Paut I, Sanchez E, Le Quellec A, Manna R, Touitou |
| The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever. Arthritis and rheumatism 2009 Nov 60 (11): 3476-84. Ferretti Massimo, Gattorno Marco, Chiocchetti Annalisa, Mesturini Riccardo, Orilieri Elisabetta, Bensi Thea, Sormani Maria Pia, Cappellano Giuseppe, Cerutti Elisa, Nicola Stefania, Biava Alessandra, Bardelli Claudio, Federici Silvia, Ceccherini Isabella, Baldi Maurizia, Santoro Claudio, Dianzani Irma, Martini Alberto, Dianzani Umber |
| Elevated immunoglobulin D levels in children with PFAPA syndrome. Neuro endocrinology letters 2011 1 31 (6): 743-6. Kovacs Laszlo, Hlavatá Anna, Baldovi? Marián, Paulovicova Ema, Dallos Tomas, Fehérvízyová Zuzana, Kadasi Ludov |
| Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1ß production. The Journal of allergy and clinical immunology 2013 Jun 131 (6): 1635-43. Kolly Laeticia, Busso Nathalie, von Scheven-Gete Annette, Bagnoud Nathaliane, Moix Isabelle, Holzinger Dirk, Simon Gregoire, Ives Annette, Guarda Greta, So Alexander, Morris Michael A, Hofer Micha |
| MEFV Variants in Patients with PFAPA Syndrome in Japan. The open rheumatology journal 2013 7 22-5. Taniuchi Shoichiro, Nishikomori Ryuta, Iharada Anna, Tuji Shoji, Heike Toshio, Kaneko Kazuna |
| Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis. Pediatric rheumatology online journal 2013 11 (1): 14. Hinks Anne, Martin Paul, Thompson Susan D, Sudman Marc, Stock Carmel J, Thomson Wendy, Day Thomas G, Packham Jon, , , Ramanan Athimalaipet V, Donn Rachelle |
| Control of the innate immune response by the mevalonate pathway. Nature immunology 2016 Jun . Akula Murali K, Shi Man, Jiang Zhaozhao, Foster Celia E, Miao David, Li Annie S, Zhang Xiaoman, Gavin Ruth M, Forde Sorcha D, Germain Gail, Carpenter Susan, Rosadini Charles V, Gritsman Kira, Chae Jae Jin, Hampton Randolph, Silverman Neal, Gravallese Ellen M, Kagan Jonathan C, Fitzgerald Katherine A, Kastner Daniel L, Golenbock Douglas T, Bergo Martin O, Wang Dongh |
| Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF. Clinical and experimental rheumatology 2017 11 35 Suppl 108 (6): 75-81. Karacan ?lker, U?urlu Serdal, Tolun Asl?han, Tahir Turanl? Eda, Ozdogan Hu |
Genetic Variants Associated With Plasma Lipids Are Associated With the Lipid Response to Niacin.
Journal of the American Heart Association 2018 Oct 7 (19): e03488. Tuteja Sony, Qu Liming, Vujkovic Marijana, Dunbar Richard L, Chen Jinbo, DerOhannessian Stephanie, Rader Daniel |
| Diagnostic Rate of Autoinflammatory Diseases Evaluated by Fever Patterns in Pediatric- and Adult-Onset Patients. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2020 Mar 26 (2): 60-62. Miyamae Takako, Hanaya Aki, Kawamoto Manabu, Tani Yumi, Kawaguchi Yasushi, Yamanaka Hisas |
| Next-Generation Sequencing Analysis of MVK, NLRP3, TNFRSF1A, and PSTPIP1 Genes in Patients without MEFV Gene Variation and Genotype-Phenotype Correlation. European journal of rheumatology 2022 5 9 (2): 62-67. Vuran Gamze, Berdeli Af |
| Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. Archives of rheumatology 2023 9 38 (2): 299-306. Rabia Miray K??la Ekinci, Özlem Anla?, Özge Öza |
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