My NCBI | Sign In
RSS Settings
  • Search:

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

    Results: 1 to 20 of 169

    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 4;135(5):338-43.PMID: 11529697 [PubMed - indexed for MEDLINE]Related articlesFree article

    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. Review. Dutch. PMID: 10800545 [PubMed - indexed for MEDLINE]Related articles

    3.

    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. Epub 2007 Sep 5.PMID: 17804452 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    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.PMID: 11313769 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    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.PMID: 10369262 [PubMed - indexed for MEDLINE]Related articles

    6.

    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.PMID: 15188372 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    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 1;11(25):3115-24.PMID: 12444096 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    [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;30(2):86-9. Japanese. PMID: 17473510 [PubMed - indexed for MEDLINE]Related articlesFree article

    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.PMID: 13130485 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    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;40(5):579-84.PMID: 11371670 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    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;256(3):247-53.PMID: 15324368 [PubMed - indexed for MEDLINE]Related articles

    12.

    Periodic fever in children with hyperimmunoglobulinemia D and mevalonate kinase mutations.

    Grose C.

    Pediatr Infect Dis J. 2005 Jun;24(6):573-4.PMID: 15933578 [PubMed - indexed for MEDLINE]Related articles

    13.

    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.PMID: 11325608 [PubMed - indexed for MEDLINE]Related articles

    14.

    [Hereditary periodic fever]

    Lamprecht P, Timmann C, Ahmadi-Simab K, Gross WL.

    Internist (Berl). 2004 Aug;45(8):904-11. Review. German. PMID: 15243709 [PubMed - indexed for MEDLINE]Related articles

    15.

    [Hyper-IgD syndrome and other hereditary periodic fever syndromes]

    Scolozzi R, Boccafogli A, Vicentini L.

    Reumatismo. 2004 Jul-Sep;56(3):147-55. Review. Italian. PMID: 15470520 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Mevalonate kinase deficiency and Dutch type periodic fever.

    Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Kimpen JL, Duran R, Poll-The BT, Kuis W.

    Clin Exp Rheumatol. 2000 Jul-Aug;18(4):525-32. Review.PMID: 10949735 [PubMed - indexed for MEDLINE]Related articles

    17.

    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.PMID: 16255052 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    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.PMID: 10369261 [PubMed - indexed for MEDLINE]Related articles

    19.

    First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome.

    Obici L, Manno C, Muda AO, Picco P, D'Osualdo A, Palladini G, Avanzini MA, Torres D, Marciano S, Merlini G.

    Arthritis Rheum. 2004 Sep;50(9):2966-9.PMID: 15457465 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    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;23(4):367-70. No abstract available. PMID: 10896296 [PubMed - indexed for MEDLINE]Related articles

    Supplemental Content

    Filter your results:

    Find related data

    Recent activity