These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 29451047)

  • 41. Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms.
    Karagianni P; Nezos A; Ioakeim F; Tzioufas AG; Moutsopoulos HM
    Clin Exp Rheumatol; 2018; 36(6 Suppl 115):86-89. PubMed ID: 30418111
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency.
    Ruiz Gomez A; Couce ML; Garcia-Villoria J; Torres A; Baña Souto A; Yagüe J; Vilaseca MA; Ribes A; Aróstegui JI
    Pediatrics; 2012 Feb; 129(2):e535-9. PubMed ID: 22271696
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).
    Jeyaratnam J; Ter Haar NM; de Sain-van der Velden MG; Waterham HR; van Gijn ME; Frenkel J
    JIMD Rep; 2016; 27():33-8. PubMed ID: 26409462
    [TBL] [Abstract][Full Text] [Related]  

  • 44. In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.
    Browne C; Timson DJ
    Ann Hum Genet; 2015 Nov; 79(6):451-9. PubMed ID: 26420133
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.
    Govindaraj GM; Jain A; Peethambaran G; Bhoyar RC; Vellarikkal SK; Ganapati A; Sandhya P; Edavazhippurath A; Dhanasooraj D; Puthenpurayil JM; Chakkiyar K; Mishra A; Batra A; Punnen A; Kumar S; Sivasubbu S; Scaria V
    PLoS One; 2020; 15(8):e0237999. PubMed ID: 32822427
    [TBL] [Abstract][Full Text] [Related]  

  • 46. [Hyperimmunoglobulinemia D and periodic fever syndrome].
    Sakai H; Heike T
    Nihon Rinsho Meneki Gakkai Kaishi; 2011; 34(5):382-7. PubMed ID: 22041426
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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]  

  • 48. 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]  

  • 49. Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
    De Benedetti F; Gattorno M; Anton J; Ben-Chetrit E; Frenkel J; Hoffman HM; Koné-Paut I; Lachmann HJ; Ozen S; Simon A; Zeft A; Calvo Penades I; Moutschen M; Quartier P; Kasapcopur O; Shcherbina A; Hofer M; Hashkes PJ; Van der Hilst J; Hara R; Bujan-Rivas S; Constantin T; Gul A; Livneh A; Brogan P; Cattalini M; Obici L; Lheritier K; Speziale A; Junge G
    N Engl J Med; 2018 May; 378(20):1908-1919. PubMed ID: 29768139
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.
    Politiek FA; Turkenburg M; Ofman R; Waterham HR
    Front Immunol; 2024; 15():1379220. PubMed ID: 38550596
    [TBL] [Abstract][Full Text] [Related]  

  • 51. GRID2 a novel gene possibly associated with mevalonate kinase deficiency.
    Moura R; Tricarico PM; Campos Coelho AV; Crovella S
    Rheumatol Int; 2015 Apr; 35(4):657-9. PubMed ID: 25146332
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Neurological manifestations in mevalonate kinase deficiency: A systematic review.
    Elhani I; Hentgen V; Grateau G; Georgin-Lavialle S
    Mol Genet Metab; 2022 Jun; 136(2):85-93. PubMed ID: 35525811
    [TBL] [Abstract][Full Text] [Related]  

  • 53. [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; 61(3):187-96. PubMed ID: 19888504
    [TBL] [Abstract][Full Text] [Related]  

  • 54. 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]  

  • 55. 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. PubMed ID: 18008182
    [TBL] [Abstract][Full Text] [Related]  

  • 56. AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.
    Rodrigues F; Philit JB; Giurgea I; Anglicheau D; Roux JJ; Hoyeau N; Grateau G; Cuisset L; Georgin-Lavialle S
    Semin Arthritis Rheum; 2020 Dec; 50(6):1370-1373. PubMed ID: 32252977
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Long-term efficacy of canakinumab in hyperimmunoglobulin D syndrome.
    Ozdemir Isik O; Karadag DT; Tekeoglu S; Yazici A; Cefle K; Cefle A
    Int J Rheum Dis; 2024 Jan; 27(1):e14857. PubMed ID: 37578023
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Cutaneous manifestations in mevalonate kinase deficient patients treated with canakinumab.
    Conte M; Pastore S; Berti I; Taddio A; Tommasini A
    Clin Exp Rheumatol; 2020; 38(4):760-762. PubMed ID: 32324125
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Repositioning of Tak-475 In Mevalonate Kinase Disease: Translating Theory Into Practice.
    Marcuzzi A; Loganes C; Celeghini C; Kleiner G
    Curr Med Chem; 2018; 25(24):2783-2796. PubMed ID: 28901277
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Canakinumab for the treatment of hyperimmunoglobulin D syndrome.
    Sánchez-Manubens J; Iglesias E; Anton J
    Expert Rev Clin Immunol; 2019 Mar; 15(3):215-220. PubMed ID: 30652926
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.