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Journal Abstract Search

223 related items for PubMed ID: 15642664

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 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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  • 3. Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
    Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJL, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, Besnard T, Cornec M, Dreau H, Pentony M, Kvikstad E, Deveaux S, Burnichon N, Ferlicot S, Vilaine M, Mazzella JM, Airaud F, Garrec C, Heidet L, Irtan S, Mantadakis E, Bouchireb K, Debatin KM, Redon R, Bezieau S, Bressac-de Paillerets B, Teh BT, Girodon F, Randi ML, Putti MC, Bours V, Van Wijk R, Göthert JR, Kattamis A, Janin N, Bento C, Taylor JC, Arlot-Bonnemains Y, Richard S, Gimenez-Roqueplo AP, Cario H, Gardie B.
    Blood; 2018 Aug 02; 132(5):469-483. PubMed ID: 29891534
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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 02; 32(4):614-21. PubMed ID: 12415268
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  • 5. Mutations in the VHL gene in sporadic apparently congenital polycythemia.
    Pastore YD, Jelinek J, Ang S, Guan Y, Liu E, Jedlickova K, Krishnamurti L, Prchal JT.
    Blood; 2003 Feb 15; 101(4):1591-5. PubMed ID: 12393546
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  • 7. Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.
    Percy MJ, McMullin MF, Jowitt SN, Potter M, Treacy M, Watson WH, Lappin TR.
    Blood; 2003 Aug 01; 102(3):1097-9. PubMed ID: 12702509
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  • 9. Screening for renal carcinoma associated mutations in the von Hippel-Lindau tumor suppressor gene by temperature gradient gel electrophoresis.
    Wenzel M, Enczmann J, Uhrberg M, Hernández A, Wiese U, Ackermann R, Schmitz-Draeger B, Ebert T, Wernet P.
    Electrophoresis; 1997 Jan 01; 18(1):45-51. PubMed ID: 9059819
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  • 10. Mutations on the von-Hippel-Lindau tumor suppressor gene.
    Bergamaschi G.
    Haematologica; 2005 Jan 01; 90(1):1. PubMed ID: 15644296
    [No Abstract] [Full Text] [Related]

  • 11. 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 01; 98(4):560-7. PubMed ID: 23403324
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  • 12. Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.
    Bento MC, Chang KT, Guan Y, Liu E, Caldas G, Gatti RA, Prchal JT.
    Haematologica; 2005 Jan 01; 90(1):128-9. PubMed ID: 15642680
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 36(11):1039-42. PubMed ID: 26224408
    [Abstract] [Full Text] [Related]

  • 14. The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension.
    Sarangi S, Lanikova L, Kapralova K, Acharya S, Swierczek S, Lipton JM, Wolfe L, Prchal JT.
    Pediatr Blood Cancer; 2014 Nov 01; 61(11):2104-6. PubMed ID: 24729484
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  • 20. Vascular complications in Chuvash polycythemia.
    Gordeuk VR, Prchal JT.
    Semin Thromb Hemost; 2006 Apr 01; 32(3):289-94. PubMed ID: 16673284
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