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188 related items for PubMed ID: 11529697

  • 1. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.
    Simon A, Cuisset L, Vincent MF, van Der Velde-Visser SD, Delpech M, van Der Meer JW, Drenth JP.
    Ann Intern Med; 2001 Sep 04; 135(5):338-43. PubMed ID: 11529697
    [Abstract] [Full Text] [Related]

  • 2. [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]

  • 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 22; 9(4):260-6. PubMed ID: 11313769
    [Abstract] [Full Text] [Related]

  • 4. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome.
    Houten SM, Frenkel J, Rijkers GT, Wanders RJ, Kuis W, Waterham HR.
    Hum Mol Genet; 2002 Dec 01; 11(25):3115-24. PubMed ID: 12444096
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 46(10):1597-600. PubMed ID: 17804452
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 22(2):178-81. PubMed ID: 10369262
    [Abstract] [Full Text] [Related]

  • 7. [MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome].
    Naruto T.
    Nihon Rinsho Meneki Gakkai Kaishi; 2007 Apr 01; 30(2):86-9. PubMed ID: 17473510
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 50(6):1951-8. PubMed ID: 15188372
    [Abstract] [Full Text] [Related]

  • 9. Periodic fever in children with hyperimmunoglobulinemia D and mevalonate kinase mutations.
    Grose C.
    Pediatr Infect Dis J; 2005 Jun 01; 24(6):573-4. PubMed ID: 15933578
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 48(9):2645-51. PubMed ID: 13130485
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 40(5):579-84. PubMed ID: 11371670
    [Abstract] [Full Text] [Related]

  • 12. Characterization of mevalonate kinase V377I, a mutant implicated in defective isoprenoid biosynthesis and HIDS/periodic fever syndrome.
    Ríos SE, Cho YK, Miziorko HM.
    Biochim Biophys Acta; 2001 Apr 30; 1531(3):165-8. PubMed ID: 11325608
    [Abstract] [Full Text] [Related]

  • 13. Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response.
    Simon A, Bijzet J, Voorbij HA, Mantovani A, van der Meer JW, Drenth JP.
    J Intern Med; 2004 Sep 30; 256(3):247-53. PubMed ID: 15324368
    [Abstract] [Full Text] [Related]

  • 14. [Hereditary periodic fever].
    Lamprecht P, Timmann C, Ahmadi-Simab K, Gross WL.
    Internist (Berl); 2004 Aug 30; 45(8):904-11. PubMed ID: 15243709
    [Abstract] [Full Text] [Related]

  • 15. Summaries for patients. Can genetics help diagnose the hyper-IgD and periodic fever syndrome.
    Ann Intern Med; 2001 Sep 04; 135(5):S-36. PubMed ID: 11556290
    [No Abstract] [Full Text] [Related]

  • 16. Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.
    Houten SM, Frenkel J, Kuis W, Wanders RJ, Poll-The BT, Waterham HR.
    J Inherit Metab Dis; 2000 Jun 04; 23(4):367-70. PubMed ID: 10896296
    [No Abstract] [Full Text] [Related]

  • 17. Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.
    Santos JA, Aróstegui JI, Brito MJ, Neves C, Conde M.
    Gene; 2014 Jun 01; 542(2):217-20. PubMed ID: 24656624
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 52(11):3606-10. PubMed ID: 16255052
    [Abstract] [Full Text] [Related]

  • 19. [Hyper-IgD syndrome and other hereditary periodic fever syndromes].
    Scolozzi R, Boccafogli A, Vicentini L.
    Reumatismo; 2004 Nov 01; 56(3):147-55. PubMed ID: 15470520
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 22(2):175-7. PubMed ID: 10369261
    [Abstract] [Full Text] [Related]

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