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Results: 1 to 20 of 275

1.

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]
Free Article
2.

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]
4.

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]
Free Article
5.

[Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic disease].

Gava A, Furlan A, Navaglia F, Miorin M, Razetti M, Basso D, Plebani M, Punzi L.

Reumatismo. 2009 Jul-Sep;61(3):187-96. Italian.

PMID:
19888504
[PubMed - indexed for MEDLINE]
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.

PMID:
17473510
[PubMed - indexed for MEDLINE]
Free Article
7.

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]
Free Article
8.

[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]
9.

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.

PMID:
15536479
[PubMed - indexed for MEDLINE]
Free Article
10.

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]
11.

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.

PMID:
12634869
[PubMed - indexed for MEDLINE]
Free Article
12.

Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.

van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW, Simon A; International HIDS Study Group.

Medicine (Baltimore). 2008 Nov;87(6):301-10. doi: 10.1097/MD.0b013e318190cfb7.

PMID:
19011501
[PubMed - indexed for MEDLINE]
13.
14.

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]
15.

B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome.

Sornsakrin M, Wenner K, Ganschow R.

Eur J Pediatr. 2009 Jul;168(7):825-31. doi: 10.1007/s00431-008-0843-6. Epub 2008 Oct 7.

PMID:
18839211
[PubMed - indexed for MEDLINE]
16.

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]
Free Article
17.

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]
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.

PMID:
12444096
[PubMed - indexed for MEDLINE]
Free Article
19.

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 1;542(2):217-20. doi: 10.1016/j.gene.2014.03.031. Epub 2014 Mar 18.

PMID:
24656624
[PubMed - indexed for MEDLINE]
20.

Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome.

Hager EJ, Tse HM, Piganelli JD, Gupta M, Baetscher M, Tse TE, Pappu AS, Steiner RD, Hoffmann GF, Gibson KM.

J Inherit Metab Dis. 2007 Nov;30(6):888-95. Epub 2007 Nov 19.

PMID:
18008182
[PubMed - indexed for MEDLINE]

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