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Items: 1 to 20 of 315

1.

[Periodic fever: the first Portuguese case-report of hyper-IgD syndrome (HIDS)].

Abreu TT.

Acta Med Port. 2004 Sep-Oct;17(5):391-4. Epub 2004 Dec 20. Portuguese.

2.

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
3.

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
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;46(10):1597-600. Epub 2007 Sep 5.

PMID:
17804452
6.

[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.

7.

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
8.

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.

9.

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.

10.

Henoch-Schönlein purpura in a child with hyperimmunoglobulinemia D and periodic fever syndrome.

Wickiser JE, Saulsbury FT.

Pediatr Dermatol. 2005 Mar-Apr;22(2):138-41.

PMID:
15804303
11.

Hereditary periodic fever with systemic amyloidosis: is hyper-IgD syndrome really a benign disease?

Siewert R, Ferber J, Horstmann RD, Specker C, Heering PJ, Timmann C.

Am J Kidney Dis. 2006 Sep;48(3):e41-5.

PMID:
16931207
12.

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
13.

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.

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.

[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
16.

Familial Mediterranean fever and hyperimmunoglobulinemia D syndrome: two diseases with distinct clinical, serologic, and genetic features.

Livneh A, Drenth JP, Klasen IS, Langevitz P, George J, Shelton DA, Gumucio DL, Pras E, Kastner DL, Pras M, van der Meer JW.

J Rheumatol. 1997 Aug;24(8):1558-63.

PMID:
9263151
17.
19.

[Periodic fever due to hyper-IgD syndrome].

Wauters IM, Linskens RK, Stehouwer CD.

Ned Tijdschr Geneeskd. 2000 Apr 22;144(17):809-11. Dutch.

PMID:
10800552
20.

Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group.

Drenth JP, Haagsma CJ, van der Meer JW.

Medicine (Baltimore). 1994 May;73(3):133-44. Review.

PMID:
8190036

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