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Journal Abstract Search

311 related items for PubMed ID: 12209523

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  • 2. An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.
    Aganna E, Zeharia A, Hitman GA, Basel-Vanagaite L, Allotey RA, Booth DR, Hawkins PN, Thacker C, Syndercombe-Court D, McDermott MF.
    Arthritis Rheum; 2002 Jan; 46(1):245-9. PubMed ID: 11817598
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  • 3. 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.
    Stojanov S, Lohse P, Lohse P, Hoffmann F, Renner ED, Zellerer S, Kéry A, Shin YS, Haas D, Hoffmann GF, Belohradsky BH.
    Arthritis Rheum; 2004 Jun; 50(6):1951-8. PubMed ID: 15188372
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  • 5. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.
    Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, Mischung C, Kusuhara K, Saulsbury FT, Lachmann HJ, Bybee A, McDermott EM, La Regina M, Arostegui JI, Campistol JM, Worthington S, High KP, Molloy MG, Baker N, Bidwell JL, Castañer JL, Whiteford ML, Janssens-Korpola PL, Manna R, Powell RJ, Woo P, Solis P, Minden K, Frenkel J, Yagüe J, Mirakian RM, Hitman GA, McDermott MF.
    Arthritis Rheum; 2003 Sep; 48(9):2632-44. PubMed ID: 13130484
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  • 6. Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment.
    Stojanov S, Dejaco C, Lohse P, Huss K, Duftner C, Belohradsky BH, Herold M, Schirmer M.
    Ann Rheum Dis; 2008 Sep; 67(9):1292-8. PubMed ID: 18180277
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  • 7. Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.
    Dodé C, Hazenberg BP, Pêcheux C, Cattan D, Moulin B, Barthélémy A, Gubler MC, Delpech M, Grateau G.
    Nephrol Dial Transplant; 2002 Jul; 17(7):1212-7. PubMed ID: 12105243
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  • 8. Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation.
    Kümpfel T, Hoffmann LA, Rübsamen H, Pöllmann W, Feneberg W, Hohlfeld R, Lohse P.
    Arthritis Rheum; 2007 Aug; 56(8):2774-83. PubMed ID: 17665448
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  • 9. 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.
    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.
    Am J Hum Genet; 2001 Aug; 69(2):301-14. PubMed ID: 11443543
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  • 13. Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.
    Marek-Yagel D, Berkun Y, Padeh S, Lidar M, Shinar Y, Bar-Joseph I, Reznik-Wolf H, Langevitz P, Livneh A, Pras E.
    Arthritis Care Res (Hoboken); 2010 Sep; 62(9):1294-8. PubMed ID: 20506103
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  • 14. Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases.
    Kümpfel T, Hoffmann LA, Pellkofer H, Pöllmann W, Feneberg W, Hohlfeld R, Lohse P.
    Neurology; 2008 Nov 25; 71(22):1812-20. PubMed ID: 19029521
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  • 15. A new mutation causing autosomal dominant periodic fever syndrome in a Danish family.
    Weyhreter H, Schwartz M, Kristensen TD, Valerius NH, Paerregaard A.
    J Pediatr; 2003 Feb 25; 142(2):191-3. PubMed ID: 12584543
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  • 16. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.
    Aganna E, Aksentijevich I, Hitman GA, Kastner DL, Hoepelman AI, Posma FD, Zweers EJ, McDermott MF.
    Eur J Hum Genet; 2001 Jan 25; 9(1):63-6. PubMed ID: 11175303
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  • 17. Severe TNF receptor-associated periodic syndrome due to 2 TNFRSF1A mutations including a new F60V substitution.
    Haas SL, Lohse P, Schmitt WH, Hildenbrand R, Karaorman M, Singer MV, Böcker U.
    Gastroenterology; 2006 Jan 25; 130(1):172-8. PubMed ID: 16401480
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  • 18. [Familial Mediterranean Fever (FMF): from diagnosis to treatment].
    Medlej-Hashim M, Loiselet J, Lefranc G, Mégarbané A.
    Sante; 2004 Jan 25; 14(4):261-6. PubMed ID: 15745878
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  • 19. [A Dutch family with the hereditary periodic fever or tumour necrosis factor receptor-associated periodic syndrome (TRAPS)].
    Chang Pan Huo NM, Dankert-Roelse JE, Kwee ML.
    Ned Tijdschr Geneeskd; 2006 Dec 09; 150(49):2711-4. PubMed ID: 17194009
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  • 20. 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.
    Dodé C, Papo T, Fieschi C, Pêcheux C, Dion E, Picard F, Godeau P, Bienvenu J, Piette JC, Delpech M, Grateau G.
    Arthritis Rheum; 2000 Jul 09; 43(7):1535-42. PubMed ID: 10902757
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