515 related articles for article (PubMed ID: 15188372)
1. 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. PubMed ID: 15188372
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 15657603
[TBL] [Abstract][Full Text] [Related]
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;
Eur J Hum Genet; 2001 Apr; 9(4):260-6. PubMed ID: 11313769
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 12634869
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 15536479
[TBL] [Abstract][Full Text] [Related]
6. A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus.
Ida H; Kawasaki E; Miyashita T; Tanaka F; Kamachi M; Izumi Y; Huang M; Tamai M; Origuchi T; Kawakami A; Migita K; Motomura M; Yoshimura T; Eguchi K
Rheumatology (Oxford); 2004 Oct; 43(10):1292-9. PubMed ID: 15280569
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 16255052
[TBL] [Abstract][Full Text] [Related]
8. 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
Eur J Hum Genet; 2001 Apr; 9(4):253-9. PubMed ID: 11313768
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 13130485
[TBL] [Abstract][Full Text] [Related]
10. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.
Dodé C; André M; Bienvenu T; Hausfater P; Pêcheux C; Bienvenu J; Lecron JC; Reinert P; Cattan D; Piette JC; Szajnert MF; Delpech M; Grateau G;
Arthritis Rheum; 2002 Aug; 46(8):2181-8. PubMed ID: 12209523
[TBL] [Abstract][Full Text] [Related]
11. Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation.
Kümpfel T; Hoffmann LA; Rübsamen H; Pöllmann W; Feneberg W; Hohlfeld R; Lohse P
Arthritis Rheum; 2007 Aug; 56(8):2774-83. PubMed ID: 17665448
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 10369262
[TBL] [Abstract][Full Text] [Related]
13. An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.
Aganna E; Zeharia A; Hitman GA; Basel-Vanagaite L; Allotey RA; Booth DR; Hawkins PN; Thacker C; Syndercombe-Court D; McDermott MF
Arthritis Rheum; 2002 Jan; 46(1):245-9. PubMed ID: 11817598
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 17804452
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 10369261
[TBL] [Abstract][Full Text] [Related]
16. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.
Aganna E; Hammond L; Hawkins PN; Aldea A; McKee SA; van Amstel HK; Mischung C; Kusuhara K; Saulsbury FT; Lachmann HJ; Bybee A; McDermott EM; La Regina M; Arostegui JI; Campistol JM; Worthington S; High KP; Molloy MG; Baker N; Bidwell JL; Castañer JL; Whiteford ML; Janssens-Korpola PL; Manna R; Powell RJ; Woo P; Solis P; Minden K; Frenkel J; Yagüe J; Mirakian RM; Hitman GA; McDermott MF
Arthritis Rheum; 2003 Sep; 48(9):2632-44. PubMed ID: 13130484
[TBL] [Abstract][Full Text] [Related]
17. Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment.
Stojanov S; Dejaco C; Lohse P; Huss K; Duftner C; Belohradsky BH; Herold M; Schirmer M
Ann Rheum Dis; 2008 Sep; 67(9):1292-8. PubMed ID: 18180277
[TBL] [Abstract][Full Text] [Related]
18. Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases.
Kümpfel T; Hoffmann LA; Pellkofer H; Pöllmann W; Feneberg W; Hohlfeld R; Lohse P
Neurology; 2008 Nov; 71(22):1812-20. PubMed ID: 19029521
[TBL] [Abstract][Full Text] [Related]
19. [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; 144(17):782-5. PubMed ID: 10800545
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 11371670
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]