BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

301 related articles for article (PubMed ID: 27164190)

  • 1. Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.
    Ramnitz MS; Gourh P; Goldbach-Mansky R; Wodajo F; Ichikawa S; Econs MJ; White KE; Molinolo A; Chen MY; Heller T; Del Rivero J; Seo-Mayer P; Arabshahi B; Jackson MB; Hatab S; McCarthy E; Guthrie LC; Brillante BA; Gafni RI; Collins MT
    J Bone Miner Res; 2016 Oct; 31(10):1845-1854. PubMed ID: 27164190
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.
    Dumitrescu CE; Kelly MH; Khosravi A; Hart TC; Brahim J; White KE; Farrow EG; Nathan MH; Murphey MD; Collins MT
    Osteoporos Int; 2009 Jul; 20(7):1273-8. PubMed ID: 18982401
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.
    Ichikawa S; Guigonis V; Imel EA; Courouble M; Heissat S; Henley JD; Sorenson AH; Petit B; Lienhardt A; Econs MJ
    J Clin Endocrinol Metab; 2007 May; 92(5):1943-7. PubMed ID: 17311862
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.
    Folsom LJ; Imel EA
    Curr Osteoporos Rep; 2015 Apr; 13(2):78-87. PubMed ID: 25656441
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.
    Rafaelsen S; Johansson S; Ræder H; Bjerknes R
    BMC Genet; 2014 Sep; 15():98. PubMed ID: 25249269
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?
    Claramunt-Taberner D; Bertholet-Thomas A; Carlier MC; Dijoud F; Chotel F; Silve C; Bacchetta J
    Pediatr Nephrol; 2018 Jul; 33(7):1263-1267. PubMed ID: 29594503
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
    Esapa CT; Head RA; Jeyabalan J; Evans H; Hough TA; Cheeseman MT; McNally EG; Carr AJ; Thomas GP; Brown MA; Croucher PI; Brown SD; Cox RD; Thakker RV
    PLoS One; 2012; 7(8):e43205. PubMed ID: 22912827
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies.
    Roberts MS; Burbelo PD; Egli-Spichtig D; Perwad F; Romero CJ; Ichikawa S; Farrow E; Econs MJ; Guthrie LC; Collins MT; Gafni RI
    J Clin Invest; 2018 Dec; 128(12):5368-5373. PubMed ID: 30226830
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management.
    Boyce AM; Lee AE; Roszko KL; Gafni RI
    Front Endocrinol (Lausanne); 2020; 11():293. PubMed ID: 32457699
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.
    Ichikawa S; Sorenson AH; Austin AM; Mackenzie DS; Fritz TA; Moh A; Hui SL; Econs MJ
    Endocrinology; 2009 Jun; 150(6):2543-50. PubMed ID: 19213845
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation.
    Goldenstein PT; Neves PD; Balbo BE; Elias RM; Pereira AC; Onuchic LF; Jüppner H; Jorgetti V; Abensur H; Moysés RM
    Am J Kidney Dis; 2018 Sep; 72(3):457-461. PubMed ID: 29548779
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
    Ichikawa S; Baujat G; Seyahi A; Garoufali AG; Imel EA; Padgett LR; Austin AM; Sorenson AH; Pejin Z; Topouchian V; Quartier P; Cormier-Daire V; Dechaux M; Malandrinou FCh; Singhellakis PN; Le Merrer M; Econs MJ
    Am J Med Genet A; 2010 Apr; 152A(4):896-903. PubMed ID: 20358599
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome.
    Olauson H; Krajisnik T; Larsson C; Lindberg B; Larsson TE
    Eur J Endocrinol; 2008 Jun; 158(6):929-34. PubMed ID: 18322299
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.
    Ito N; Fukumoto S
    Calcif Tissue Int; 2021 Jan; 108(1):104-115. PubMed ID: 31965220
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in
    Kışla Ekinci RM; Gürbüz F; Balcı S; Bişgin A; Taştan M; Yüksel B; Yılmaz M
    J Clin Res Pediatr Endocrinol; 2019 Feb; 11(1):94-99. PubMed ID: 30015621
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing.
    Shah A; Miller CJ; Nast CC; Adams MD; Truitt B; Tayek JA; Tong L; Mehtani P; Monteon F; Sedor JR; Clinkenbeard EL; White K; Mehrotra R; LaPage J; Dickson P; Adler SG; Iyengar SK
    Nephrol Dial Transplant; 2014 Dec; 29(12):2235-43. PubMed ID: 25378588
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.
    Chakhtoura M; Ramnitz MS; Khoury N; Nemer G; Shabb N; Abchee A; Berberi A; Hourani M; Collins M; Ichikawa S; El Hajj Fuleihan G
    Osteoporos Int; 2018 Sep; 29(9):1987-2009. PubMed ID: 29923062
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS).
    Abbasi F; Ghafouri-Fard S; Javaheri M; Dideban A; Ebrahimi A; Ebrahim-Habibi A
    Gene; 2014 Jun; 542(2):269-71. PubMed ID: 24680727
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Defective O-glycosylation of novel FGF23 mutations in a Chinese family with hyperphosphatemic familial tumoral calcinosis.
    Liu C; Pang Q; Jiang Y; Xia Y; Fang L; Wang O; Li M; Xing X; Gong Y; Xia W
    Bone; 2020 Aug; 137():115401. PubMed ID: 32360901
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 16.