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Journal Abstract Search

225 related items for PubMed ID: 12393546

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  • 2. Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.
    Pastore Y, Jedlickova K, Guan Y, Liu E, Fahner J, Hasle H, Prchal JF, Prchal JT.
    Am J Hum Genet; 2003 Aug; 73(2):412-9. PubMed ID: 12844285
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  • 4. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
    Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, Liu E, Sergueeva AI, Miasnikova GY, Mole D, Maxwell PH, Stockton DW, Semenza GL, Prchal JT.
    Nat Genet; 2002 Dec; 32(4):614-21. PubMed ID: 12415268
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  • 6. Endemic polycythemia in Russia: mutation in the VHL gene.
    Ang SO, Chen H, Gordeuk VR, Sergueeva AI, Polyakova LA, Miasnikova GY, Kralovics R, Stockton DW, Prchal JT.
    Blood Cells Mol Dis; 2002 Dec; 28(1):57-62. PubMed ID: 11987242
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  • 7. Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis.
    Cario H, Schwarz K, Jorch N, Kyank U, Petrides PE, Schneider DT, Uhle R, Debatin KM, Kohne E.
    Haematologica; 2005 Jan; 90(1):19-24. PubMed ID: 15642664
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  • 9. The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).
    Tomasic NL, Piterkova L, Huff C, Bilic E, Yoon D, Miasnikova GY, Sergueeva AI, Niu X, Nekhai S, Gordeuk V, Prchal JT.
    Haematologica; 2013 Apr; 98(4):560-7. PubMed ID: 23403324
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  • 12. Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.
    Lanikova L, Lorenzo F, Yang C, Vankayalapati H, Drachtman R, Divoky V, Prchal JT.
    Blood; 2013 May 09; 121(19):3918-24. PubMed ID: 23538339
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  • 14. von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis.
    Hickey MM, Lam JC, Bezman NA, Rathmell WK, Simon MC.
    J Clin Invest; 2007 Dec 09; 117(12):3879-89. PubMed ID: 17992257
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  • 16. Endolymphatic sac tumors in patients with and without von Hippel-Lindau disease: the role of genetic mutation, von Hippel-Lindau protein, and hypoxia inducible factor-1alpha expression.
    Jensen RL, Gillespie D, House P, Layfield L, Shelton C.
    J Neurosurg; 2004 Mar 09; 100(3):488-97. PubMed ID: 15035285
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  • 18. Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia.
    van Rooijen E, Voest EE, Logister I, Korving J, Schwerte T, Schulte-Merker S, Giles RH, van Eeden FJ.
    Blood; 2009 Jun 18; 113(25):6449-60. PubMed ID: 19304954
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  • 19. Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.
    Perrotta S, Nobili B, Ferraro M, Migliaccio C, Borriello A, Cucciolla V, Martinelli V, Rossi F, Punzo F, Cirillo P, Parisi G, Zappia V, Rotoli B, Della Ragione F.
    Blood; 2006 Jan 15; 107(2):514-9. PubMed ID: 16210343
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