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248 related items for PubMed ID: 11817598

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus.
    Ida H, Kawasaki E, Miyashita T, Tanaka F, Kamachi M, Izumi Y, Huang M, Tamai M, Origuchi T, Kawakami A, Migita K, Motomura M, Yoshimura T, Eguchi K.
    Rheumatology (Oxford); 2004 Oct; 43(10):1292-9. PubMed ID: 15280569
    [Abstract] [Full Text] [Related]

  • 3. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.
    Dodé C, André M, Bienvenu T, Hausfater P, Pêcheux C, Bienvenu J, Lecron JC, Reinert P, Cattan D, Piette JC, Szajnert MF, Delpech M, Grateau G, French Heraditary Recurrent Inflammatory Disorder Study Group.
    Arthritis Rheum; 2002 Aug; 46(8):2181-8. PubMed ID: 12209523
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Autosomal dominant periodic fever with AA amyloidosis: tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family.
    Dinc A, Erdem H, Rowczenio D, Simsek I, Pay S, Bahce M, Lachmann H.
    J Nephrol; 2005 Aug; 18(5):626-9. PubMed ID: 16299693
    [Abstract] [Full Text] [Related]

  • 9. 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; 43(7):1535-42. PubMed ID: 10902757
    [Abstract] [Full Text] [Related]

  • 10. Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome: differences between cell types.
    Huggins ML, Radford PM, McIntosh RS, Bainbridge SE, Dickinson P, Draper-Morgan KA, Tighe PJ, Powell RJ, Todd I.
    Arthritis Rheum; 2004 Aug; 50(8):2651-9. PubMed ID: 15334481
    [Abstract] [Full Text] [Related]

  • 11. 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; 9(1):63-6. PubMed ID: 11175303
    [Abstract] [Full Text] [Related]

  • 12. 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; 142(2):191-3. PubMed ID: 12584543
    [Abstract] [Full Text] [Related]

  • 13. 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; 130(1):172-8. PubMed ID: 16401480
    [Abstract] [Full Text] [Related]

  • 14. Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function.
    Rebelo SL, Bainbridge SE, Amel-Kashipaz MR, Radford PM, Powell RJ, Todd I, Tighe PJ.
    Arthritis Rheum; 2006 Aug; 54(8):2674-87. PubMed ID: 16871532
    [Abstract] [Full Text] [Related]

  • 15. Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients.
    Rösen-Wolff A, Kreth HW, Hofmann S, Höhne K, Heubner G, Möbius D, Zintl F, Gahr M, Roesler J.
    Eur J Haematol; 2001 Aug; 67(2):105-9. PubMed ID: 11722598
    [Abstract] [Full Text] [Related]

  • 16. Mutant tumor necrosis factor receptor associated with tumor necrosis factor receptor-associated periodic syndrome is altered antigenically and is retained within patients' leukocytes.
    Todd I, Radford PM, Daffa N, Bainbridge SE, Powell RJ, Tighe PJ.
    Arthritis Rheum; 2007 Aug; 56(8):2765-73. PubMed ID: 17665435
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. 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 25; 17(7):1212-7. PubMed ID: 12105243
    [Abstract] [Full Text] [Related]

  • 20. "Periodic fever" without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis.
    Kallinich T, Haffner D, Rudolph B, Schindler R, Canaan-Kühl S, Keitzer R, Burmester GR, Roesen-Wolff A, Roesler J.
    Ann Rheum Dis; 2006 Jul 25; 65(7):958-60. PubMed ID: 16308343
    [Abstract] [Full Text] [Related]

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