BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

266 related articles for article (PubMed ID: 18378852)

  • 1. Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
    Percy MJ; Beer PA; Campbell G; Dekker AW; Green AR; Oscier D; Rainey MG; van Wijk R; Wood M; Lappin TR; McMullin MF; Lee FS
    Blood; 2008 Jun; 111(11):5400-2. PubMed ID: 18378852
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
    Perrotta S; Stiehl DP; Punzo F; Scianguetta S; Borriello A; Bencivenga D; Casale M; Nobili B; Fasoli S; Balduzzi A; Cro L; Nytko KJ; Wenger RH; Della Ragione F
    Haematologica; 2013 Oct; 98(10):1624-32. PubMed ID: 23716564
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation.
    Tan Q; Kerestes H; Percy MJ; Pietrofesa R; Chen L; Khurana TS; Christofidou-Solomidou M; Lappin TR; Lee FS
    J Biol Chem; 2013 Jun; 288(24):17134-44. PubMed ID: 23640890
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway.
    Percy MJ
    Ulster Med J; 2008 May; 77(2):86-8. PubMed ID: 18711622
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Erythrocytosis associated with a novel missense mutation in the HIF2A gene.
    van Wijk R; Sutherland S; Van Wesel AC; Huizinga EG; Percy MJ; Bierings M; Lee FS
    Haematologica; 2010 May; 95(5):829-32. PubMed ID: 20007141
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.
    Furlow PW; Percy MJ; Sutherland S; Bierl C; McMullin MF; Master SR; Lappin TR; Lee FS
    J Biol Chem; 2009 Apr; 284(14):9050-8. PubMed ID: 19208626
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
    Percy MJ; Furlow PW; Lucas GS; Li X; Lappin TR; McMullin MF; Lee FS
    N Engl J Med; 2008 Jan; 358(2):162-8. PubMed ID: 18184961
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Polycythemia and paraganglioma with a novel somatic HIF2A mutation in a male.
    Toyoda H; Hirayama J; Sugimoto Y; Uchida K; Ohishi K; Hirayama M; Komada Y
    Pediatrics; 2014 Jun; 133(6):e1787-91. PubMed ID: 24819565
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis.
    Martini M; Teofili L; Cenci T; Giona F; Torti L; Rea M; Foà R; Leone G; Larocca LM
    Haematologica; 2008 Jul; 93(7):1068-71. PubMed ID: 18508787
    [TBL] [Abstract][Full Text] [Related]  

  • 10. HIF pathway mutations and erythrocytosis.
    McMullin MF
    Expert Rev Hematol; 2010 Feb; 3(1):93-101. PubMed ID: 21082936
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.
    Lappin TR; Lee FS
    Blood Rev; 2019 Sep; 37():100590. PubMed ID: 31350093
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Comprehensive
    Karaghiannis V; Maric D; Garrec C; Maaziz N; Buffet A; Schmitt L; Antunes V; Airaud F; Aral B; Le Roy A; Corbineau S; Mansour-Hendili L; Lesieur V; Rimbert A; Laporte F; Delamare M; Rab M; Bézieau S; Cassinat B; Galacteros F; Gimenez-Roqueplo AP; Burnichon N; Cario H; Van Wijk R; Bento C; Girodon F; Hoogewijs D; Gardie B
    Haematologica; 2023 Jun; 108(6):1652-1666. PubMed ID: 36700397
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The HIF2A gene in familial erythrocytosis.
    Perrotta S; Della Ragione F
    N Engl J Med; 2008 May; 358(18):1966; author reply 1966-7. PubMed ID: 18456918
    [No Abstract]   [Full Text] [Related]  

  • 14. Novel mutations in the EPO-R, VHL and EPAS1 genes in the Congenital Erythrocytosis patients.
    Chandrasekhar C; Pasupuleti SK; Sarma PVGK
    Blood Cells Mol Dis; 2020 Nov; 85():102479. PubMed ID: 32739800
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A new exon 12 mutation in the EPAS1 gene possibly associated with erythrocytosis.
    Schelker RC; Herr W; Grassinger J
    Eur J Haematol; 2019 Jul; 103(1):64-66. PubMed ID: 31038790
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel germline gain-of-function HIF2A mutation in hepatocellular carcinoma with polycythemia.
    Yu J; Shi X; Yang C; Bullova P; Hong CS; Nesvick CL; Dmitriev P; Pacak K; Zhuang Z; Cao H; Li L
    Aging (Albany NY); 2020 Apr; 12(7):5781-5791. PubMed ID: 32235007
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.
    Comino-Méndez I; de Cubas AA; Bernal C; Álvarez-Escolá C; Sánchez-Malo C; Ramírez-Tortosa CL; Pedrinaci S; Rapizzi E; Ercolino T; Bernini G; Bacca A; Letón R; Pita G; Alonso MR; Leandro-García LJ; Gómez-Graña A; Inglada-Pérez L; Mancikova V; Rodríguez-Antona C; Mannelli M; Robledo M; Cascón A
    Hum Mol Genet; 2013 Jun; 22(11):2169-76. PubMed ID: 23418310
    [TBL] [Abstract][Full Text] [Related]  

  • 18. HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.
    Liu Q; Tong D; Liu G; Yi Y; Zhang D; Zhang J; Zhang Y; Huang Z; Li Y; Chen R; Guan Y; Yi X; Jiang J
    Cancer Biol Ther; 2017 Dec; 18(12):944-947. PubMed ID: 29172931
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The HIF2A gene in familial erythrocytosis.
    Eltzschig HK; El Kasmi KC; Eckle T
    N Engl J Med; 2008 May; 358(18):1965-6; author reply 1966-7. PubMed ID: 18450610
    [No Abstract]   [Full Text] [Related]  

  • 20. The HIF pathway and erythrocytosis.
    Lee FS; Percy MJ
    Annu Rev Pathol; 2011; 6():165-92. PubMed ID: 20939709
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.