| 1 | TNFRSF1A, TRAPS
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| Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.
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| Marek-Yagel D, Berkun Y, Padeh S, Lidar M, Shinar Y, Bar-Joseph I, Reznik-Wolf H, Langevitz P, Livneh A, Pras E.
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| Arthritis Care Res (Hoboken) 62(9):1294-8.
2010
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| 2 | TNFRSF1A, TRAPS
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| TNF receptor-associated periodic syndrome (TRAPS): a new cause of joint destruction?
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| Schoindre Y, Feydy A, Giraudet-Lequintrec JS, Kahan A, Allanore Y.
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| Joint Bone Spine 76(5):567-9. Epub 2009 Sep 30.
2009
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| 3 | FMF, MEFV, TNFRSF1A, TRAPS
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| Overlap syndrome between FMF and TRAPS in a patient carrying MEFV and TNFRSF1A mutations.
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| Granel B, Serratrice J, Dodé C, Grateau G, Disdier P, Weiller PJ.
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| Clin Exp Rheumatol 25(4 Suppl 45):S93-5.PMID: 17949559 2007
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| 4 | TNFRSF1A,TRAPS
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| Mutation of the extracellular domain of tumour necrosis factor receptor 1 causes reduced NF-kappaB activation due to decreased surface expression.
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| Siebert S, Fielding CA, Williams BD, Brennan P.
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| FEBS Lett 579(23):5193-8. 2005
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| 5 | TNFRSF1A, TRAPS
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| Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family.
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| Kusuhara K, Nomura A, Nakao F, Hara T.
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| Eur J Pediatr 163(1):30-2. Epub 2003 Nov 11. 2004
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| 6 | HIDS, MVK, MVKD, TNFRSF1A, TRAPS
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| Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.
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| Stojanov S, Lohse P, Lohse P, Hoffmann F, Renner ED, Zellerer S, Kery A, Shin YS, Haas D, Hoffmann GF, Belohradsky BH.
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| Arthritis Rheum 50(6):1951-8. 2004
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| 7 | TNFRSF1A, TRAPS
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| An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.
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| Aganna E, Zeharia A, Hitman GA, Basel-Vanagaite L, Allotey RA, Booth DR, Hawkins PN, Thacker C, Syndercombe-Court D, McDermott MF.
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| Arthritis Rheum 46(1):245-9. 2002
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| 8 | TNFRSF1A, TRAPS
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| Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.
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| Aganna E, Aksentijevich I, Hitman GA, Kastner DL, Hoepelman AI, Posma FD, Zweers EJ, McDermott MF.
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| Eur J Hum Genet 9(1):63-6. 2001
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| 9 | TNFRSF1A, TRAPS
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| The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.
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| Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O'Shea JJ, Kastner DL.
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| Am J Hum Genet 69(2):301-14. 2001
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| 10 | TNFRSF1A, TRAPS
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| Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication.
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| Jadoul M, Dode C, Cosyns JP, Abramowicz D, Georges B, Delpech M, Pirson Y.
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| Kidney Int 59(5):1677-82. 2001
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| 11 | TNFRSF1A, TRAPS
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| Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients.
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| Rosen-Wolff A, Kreth HW, Hofmann S, Hohne K, Heubner G, Mobius D, Zintl F, Gahr M, Roesler J.
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| Eur J Haematol 67(2):105-9. 2001
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| 12 | TRAPS, TNFRSF1A
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| A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family.
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| Dode C, Papo T, Fieschi C, Pecheux C, Dion E, Picard F, Godeau P, Bienvenu J, Piette JC, Delpech M, Grateau G.
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| Arthritis Rheum 43(7):1535-42. 2000
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| 13 | TRAPS, TNFRSF1A
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| Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
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| McDermott MF, et al.
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| Cell 97(1):133-44. 1999
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| 14 | TRAPS
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| Gene localization for an autosomal dominant familial periodic fever to 12p13.
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| Mulley J, et al.
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| Am J Hum Genet 62 : 884-889. 1998
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| 15 | TRAPS
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| Exclusion of the familial Mediterranean fever locus as a susceptibility region for autosomal dominant familial Hibernian fever.
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| McDermott MF, et al.
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| J Med Genet 35 : 432-434. 1998
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| 16 | TRAPS
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| Linkage of familial Hibernian fever to chromosome 12p13.
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| McDermott MF, et al.
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| Am J Hum Genet 62 : 1446-1451. 1998
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| 17 | TRAPS
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| Genetic exclusion of 14 candidate genes in lipoatrophic diabetes using linkage analysis in 10 consanguineous families.
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| Vigouroux C, Khallouf E, Bourut C, Robert JJ, de Kerdanet M, Tubiana-Rufi N, Faure S, Weissenbach J, Capeau J, Magre J.
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| J Clin Endocrinol Metab 82(10):3438-44. 1997
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