PubMed (OMIM) for id: 368373

Year	Number of Results
1985	1
1986	1
1988	1
1992	1
1993	1
1994	2
1997	1
1998	1
1999	4
2001	2
2002	1
2005	1
2024	0

1

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. D'Osualdo A, et al. Eur J Hum Genet. 2005 Mar;13(3):314-20. doi: 10.1038/sj.ejhg.5201323. Eur J Hum Genet. 2005. PMID: 15536479

2

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. Houten SM, et al. Hum Mol Genet. 2002 Dec 1;11(25):3115-24. doi: 10.1093/hmg/11.25.3115. Hum Mol Genet. 2002. PMID: 12444096

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. Cuisset L, et al. Eur J Hum Genet. 2001 Apr;9(4):260-6. doi: 10.1038/sj.ejhg.5200614. Eur J Hum Genet. 2001. PMID: 11313769

4

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Eur J Hum Genet. 2001 Apr;9(4):253-9. doi: 10.1038/sj.ejhg.5200595. Eur J Hum Genet. 2001. PMID: 11313768

5

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

Hinson DD, Ross RM, Krisans S, Shaw JL, Kozich V, Rolland MO, Divry P, Mancini J, Hoffmann GF, Gibson KM. Hinson DD, et al. Am J Hum Genet. 1999 Aug;65(2):327-35. doi: 10.1086/302489. Am J Hum Genet. 1999. PMID: 10417275 Free PMC article.

6

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Hum Mol Genet. 1999 Aug;8(8):1523-8. doi: 10.1093/hmg/8.8.1523. Hum Mol Genet. 1999. PMID: 10401001

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. Drenth JP, et al. Nat Genet. 1999 Jun;22(2):178-81. doi: 10.1038/9696. Nat Genet. 1999. PMID: 10369262

8

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. Houten SM, et al. Nat Genet. 1999 Jun;22(2):175-7. doi: 10.1038/9691. Nat Genet. 1999. PMID: 10369261

9

Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.

Hinson DD, Rogers ZR, Hoffmann GF, Schachtele M, Fingerhut R, Kohlschutter A, Kelley RI, Gibson KM. Hinson DD, et al. Am J Med Genet. 1998 Aug 6;78(5):408-12. Am J Med Genet. 1998. PMID: 9714005

10

Mevalonate kinase map position 12q24.

Gibson KM, Hoffmann GF, Tanaka RD, Bishop RW, Chambliss KL. Gibson KM, et al. Chromosome Res. 1997 Apr;5(2):150. doi: 10.1023/a:1018430527386. Chromosome Res. 1997. PMID: 9146921 No abstract available.

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