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501 related items for PubMed ID: 15188372

  • 1. 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]

  • 2. Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.
    Hoffmann F, Lohse P, Stojanov S, Shin YS, Renner ED, Kéry A, Zellerer S, Belohradsky BH.
    Eur J Hum Genet; 2005 Apr; 13(4):510-2. PubMed ID: 15657603
    [Abstract] [Full Text] [Related]

  • 3. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
    Cuisset L, Drenth JP, Simon A, Vincent MF, van der Velde Visser S, van der Meer JW, Grateau G, Delpech M, International Hyper-IgD Study Group.
    Eur J Hum Genet; 2001 Apr; 9(4):260-6. PubMed ID: 11313769
    [Abstract] [Full Text] [Related]

  • 4. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.
    Houten SM, van Woerden CS, Wijburg FA, Wanders RJ, Waterham HR.
    Eur J Hum Genet; 2003 Feb; 11(2):196-200. PubMed ID: 12634869
    [Abstract] [Full Text] [Related]

  • 5. MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
    D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F, Obici L, Meini A, Ricci A, Seri M, Ravazzolo R, Martini A, Ceccherini I.
    Eur J Hum Genet; 2005 Mar; 13(3):314-20. PubMed ID: 15536479
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins.
    Hospach T, Lohse P, Heilbronner H, Dannecker GE, Lohse P.
    Arthritis Rheum; 2005 Nov; 52(11):3606-10. PubMed ID: 16255052
    [Abstract] [Full Text] [Related]

  • 8. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
    Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, Waterham HR.
    Eur J Hum Genet; 2001 Apr; 9(4):253-9. PubMed ID: 11313768
    [Abstract] [Full Text] [Related]

  • 9. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.
    Takada K, Aksentijevich I, Mahadevan V, Dean JA, Kelley RI, Kastner DL.
    Arthritis Rheum; 2003 Sep; 48(9):2645-51. PubMed ID: 13130485
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.
    Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M.
    Nat Genet; 1999 Jun; 22(2):178-81. PubMed ID: 10369262
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome.
    Ammouri W, Cuisset L, Rouaghe S, Rolland MO, Delpech M, Grateau G, Ravet N.
    Rheumatology (Oxford); 2007 Oct; 46(10):1597-600. PubMed ID: 17804452
    [Abstract] [Full Text] [Related]

  • 15. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
    Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, Poll-The BT.
    Nat Genet; 1999 Jun; 22(2):175-7. PubMed ID: 10369261
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 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. [Identification of the gene for hyper-IgD syndrome: a model of modern genetics].
    Drenth JP, Waterham HR, Kuis W, Houten SM, Frenkel J, Wanders RJ, Poll-The BT, van der Meer JW.
    Ned Tijdschr Geneeskd; 2000 Apr 22; 144(17):782-5. PubMed ID: 10800545
    [Abstract] [Full Text] [Related]

  • 20. Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.
    Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, Kuis W.
    Rheumatology (Oxford); 2001 May 22; 40(5):579-84. PubMed ID: 11371670
    [Abstract] [Full Text] [Related]

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