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701 related items for PubMed ID: 14767570

  • 1. A variety of phenotype with R161Q germline mutation of the von Hippel-Lindau tumor suppressor gene in Japanese kindred.
    Iida K, Okimura Y, Takahashi K, Inomata S, Iguchi G, Kaji H, Chihara K.
    Int J Mol Med; 2004 Mar; 13(3):401-4. PubMed ID: 14767570
    [Abstract] [Full Text] [Related]

  • 2. Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease.
    Zatyka M, da Silva NF, Clifford SC, Morris MR, Wiesener MS, Eckardt KU, Houlston RS, Richards FM, Latif F, Maher ER.
    Cancer Res; 2002 Jul 01; 62(13):3803-11. PubMed ID: 12097293
    [Abstract] [Full Text] [Related]

  • 3. von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.
    Hoffman MA, Ohh M, Yang H, Klco JM, Ivan M, Kaelin WG.
    Hum Mol Genet; 2001 May 01; 10(10):1019-27. PubMed ID: 11331612
    [Abstract] [Full Text] [Related]

  • 4. [Familial and genetic study in a large Chinese kindred with von Hippel-Lindau disease and gene mutation analysis].
    Zhang J, Huang YR, Wang JD, Fan XD.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb 01; 21(1):5-9. PubMed ID: 14767899
    [Abstract] [Full Text] [Related]

  • 5. Genetic study of a large Chinese kindred with von Hippel-Lindau disease.
    Huang YR, Zhang J, Wang JD, Fan XD.
    Chin Med J (Engl); 2004 Apr 01; 117(4):552-7. PubMed ID: 15109448
    [Abstract] [Full Text] [Related]

  • 6. Von Hippel-Lindau syndrome. A pleomorphic condition.
    Friedrich CA.
    Cancer; 1999 Dec 01; 86(11 Suppl):2478-82. PubMed ID: 10630173
    [Abstract] [Full Text] [Related]

  • 7. Role of VHL gene mutation in human cancer.
    Kim WY, Kaelin WG.
    J Clin Oncol; 2004 Dec 15; 22(24):4991-5004. PubMed ID: 15611513
    [Abstract] [Full Text] [Related]

  • 8. The von Hippel-Lindau tumor suppressor gene and kidney cancer.
    Kaelin WG.
    Clin Cancer Res; 2004 Sep 15; 10(18 Pt 2):6290S-5S. PubMed ID: 15448019
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 100(3):488-97. PubMed ID: 15035285
    [Abstract] [Full Text] [Related]

  • 10. Renal cell carcinoma- and pheochromocytoma-specific altered gene expression profiles in VHL mutant clones.
    Tsuchiya MI, Okuda H, Takaki Y, Baba M, Hirai S, Ohno S, Shuin T.
    Oncol Rep; 2005 Jun 15; 13(6):1033-41. PubMed ID: 15870918
    [Abstract] [Full Text] [Related]

  • 11. The von Hippel-Lindau tumor suppressor gene.
    Kondo K, Kaelin WG.
    Exp Cell Res; 2001 Mar 10; 264(1):117-25. PubMed ID: 11237528
    [Abstract] [Full Text] [Related]

  • 12. [Von Hippel-Lindau disease].
    Shuin T, Ashida S, Yao M, Kanno H.
    Nihon Rinsho; 2000 Jul 10; 58(7):1448-54. PubMed ID: 10921322
    [Abstract] [Full Text] [Related]

  • 13. Germline mutation of von Hippel-Lindau (VHL) gene 695 G>A (R161Q) in a patient with a peculiar phenotype with type 2C VHL syndrome.
    Santarpia L, Lapa D, Benvenga S.
    Ann N Y Acad Sci; 2006 Aug 10; 1073():198-202. PubMed ID: 17102087
    [Abstract] [Full Text] [Related]

  • 14. VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V.
    Weirich G, Klein B, Wöhl T, Engelhardt D, Brauch H.
    J Clin Endocrinol Metab; 2002 Nov 10; 87(11):5241-6. PubMed ID: 12414898
    [Abstract] [Full Text] [Related]

  • 15. Up-regulation of hypoxia-inducible factors HIF-1alpha and HIF-2alpha under normoxic conditions in renal carcinoma cells by von Hippel-Lindau tumor suppressor gene loss of function.
    Krieg M, Haas R, Brauch H, Acker T, Flamme I, Plate KH.
    Oncogene; 2000 Nov 16; 19(48):5435-43. PubMed ID: 11114720
    [Abstract] [Full Text] [Related]

  • 16. Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.
    Neumann HP, Eng C, Mulligan LM, Glavac D, Zäuner I, Ponder BA, Crossey PA, Maher ER, Brauch H.
    JAMA; 1995 Oct 11; 274(14):1149-51. PubMed ID: 7563486
    [Abstract] [Full Text] [Related]

  • 17. A family with von Hippel-Lindau disease revealed by pheochromocytoma.
    Tomita N, Moriguchi A, Yamasaki K, Taniyama Y, Kotani N, Hashiya N, Yoshida M, Yao M, Higaki J, Ogihara T.
    Hypertens Res; 2001 Jul 11; 24(4):445-50. PubMed ID: 11510758
    [Abstract] [Full Text] [Related]

  • 18. Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease.
    Allen RC, Webster AR, Sui R, Brown J, Taylor CM, Stone EM.
    Arch Ophthalmol; 2001 Nov 11; 119(11):1659-65. PubMed ID: 11709017
    [Abstract] [Full Text] [Related]

  • 19. Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
    Olschwang S, Richard S, Boisson C, Giraud S, Laurent-Puig P, Resche F, Thomas G.
    Hum Mutat; 1998 Nov 11; 12(6):424-30. PubMed ID: 9829912
    [Abstract] [Full Text] [Related]

  • 20. Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.
    Prowse AH, Webster AR, Richards FM, Richard S, Olschwang S, Resche F, Affara NA, Maher ER.
    Am J Hum Genet; 1997 Apr 11; 60(4):765-71. PubMed ID: 9106522
    [Abstract] [Full Text] [Related]

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