BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 31038790)

  • 1. 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]  

  • 2. 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]  

  • 3. Genetic basis of unexplained erythrocytosis in Indian patients.
    Mallik N; Sharma P; Kaur Hira J; Chhabra S; Sreedharanunni S; Kumar N; Naseem S; Sachdeva MUS; Ahluwalia J; Malhotra P; Varma N; Varma S; Das R
    Eur J Haematol; 2019 Aug; 103(2):124-130. PubMed ID: 31132167
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 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. Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis.
    Echambadi Loganathan S; Kattaru S; Chandrasekhar C; Vengamma B; Sarma PVGK
    Eur J Med Genet; 2022 Jun; 65(6):104493. PubMed ID: 35395428
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The complete evaluation of erythrocytosis: congenital and acquired.
    Patnaik MM; Tefferi A
    Leukemia; 2009 May; 23(5):834-44. PubMed ID: 19295544
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.
    Bartels M; van der Zalm MM; van Oirschot BA; Lee FS; Giles RH; Kruip MJ; Gitz-Francois JJ; Van Solinge WW; Bierings M; van Wijk R
    Hum Mutat; 2015 Nov; 36(11):1039-42. PubMed ID: 26224408
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels.
    Percy MJ; Scott LM; Erber WN; Harrison CN; Reilly JT; Jones FG; Green AR; McMullin MF
    Haematologica; 2007 Dec; 92(12):1607-14. PubMed ID: 18055983
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.
    Alaikov T; Ivanova M; Shivarov V
    Hematology; 2016 Dec; 21(10):619-622. PubMed ID: 27292716
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
    Bento C; Almeida H; Maia TM; Relvas L; Oliveira AC; Rossi C; Girodon F; Fernandez-Lago C; Aguado-Diaz A; Fraga C; Costa RM; Araújo AL; Silva J; Vitória H; Miguel N; Silveira MP; Martin-Nuñez G; Ribeiro ML
    Eur J Haematol; 2013 Oct; 91(4):361-8. PubMed ID: 23859443
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases.
    Kristan A; Debeljak N; Kunej T
    Eur J Haematol; 2019 Oct; 103(4):287-299. PubMed ID: 31376207
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Erythrocytosis associated with
    Gangat N; Oliveira JL; Porter TR; Hoyer JD; Al-Kali A; Patnaik MM; Pardanani A; Tefferi A
    Haematologica; 2022 May; 107(5):1201-1204. PubMed ID: 35142155
    [No Abstract]   [Full Text] [Related]  

  • 19. Diagnosis and genetic analysis of polycythemia in children and a novel EPAS1 gene mutation.
    Cakmak HM; Kartal O; Kocaaga A; Bildirici Y
    Pediatr Neonatol; 2022 Nov; 63(6):613-617. PubMed ID: 36002380
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.