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Items: 1 to 20 of 265

1.
2.

Hyperimmunoglobulinemia D syndrome in an Arab child.

Hammoudeh M.

Clin Rheumatol. 2005 Feb;24(1):92-4. Epub 2004 Jul 8.

PMID:
15674660
4.

[Hereditary periodic fever].

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

Internist (Berl). 2004 Aug;45(8):904-11. Review. German.

PMID:
15243709
5.

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
6.

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.

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.

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.

9.

[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
10.

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.

12.

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.

13.

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
14.

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.

15.

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.

16.
17.

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
18.

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.

19.

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.

20.

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.

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