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Journal Abstract Search

711 related items for PubMed ID: 24555745

  • 1. Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
    Wittström E, Nordling M, Andréasson S.
    Ophthalmic Genet; 2014 Jun; 35(2):91-106. PubMed ID: 24555745
    [Abstract] [Full Text] [Related]

  • 2. PARS PLANA VITRECTOMY IN ADVANCED CASES OF VON HIPPEL-LINDAU EYE DISEASE.
    Krzystolik K, Stopa M, Kuprjanowicz L, Drobek-Slowik M, Cybulski C, Jakubowska A, Gronwald J, Lubiński J, Lubiński W.
    Retina; 2016 Feb; 36(2):325-34. PubMed ID: 26308528
    [Abstract] [Full Text] [Related]

  • 3. Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing.
    Liu F, Calhoun B, Alam MS, Sun M, Wang X, Zhang C, Haldar K, Lu X.
    BMC Med Genet; 2020 Feb 27; 21(1):42. PubMed ID: 32106822
    [Abstract] [Full Text] [Related]

  • 4. Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease.
    Faiyaz-Ul-Haque M, Jamil M, Aslam M, Abalkhail H, Al-Dayel F, Basit S, Nawaz Z, Zaidi SHE.
    Cancer Genet; 2020 May 27; 243():1-6. PubMed ID: 32179488
    [Abstract] [Full Text] [Related]

  • 5. Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
    Lee JS, Lee JH, Lee KE, Kim JH, Hong JM, Ra EK, Seo SH, Lee SJ, Kim MJ, Park SS, Seong MW.
    BMC Med Genet; 2016 Jul 20; 17(1):48. PubMed ID: 27439424
    [Abstract] [Full Text] [Related]

  • 6. Genotype-phenotype correlations in VHL exon deletions.
    McNeill A, Rattenberry E, Barber R, Killick P, MacDonald F, Maher ER.
    Am J Med Genet A; 2009 Oct 20; 149A(10):2147-51. PubMed ID: 19764026
    [Abstract] [Full Text] [Related]

  • 7. von Hippel-Lindau syndrome.
    Chou A, Toon C, Pickett J, Gill AJ.
    Front Horm Res; 2013 Oct 20; 41():30-49. PubMed ID: 23652669
    [Abstract] [Full Text] [Related]

  • 8. [Genetic analysis of a family with Von Hippel-Lindau syndrome].
    Lafuente-Sanchis A, Cuevas JM, Alemany P, Cremades A, Zúñiga Á.
    Rev Esp Patol; 2017 Oct 20; 50(1):64-67. PubMed ID: 29179968
    [Abstract] [Full Text] [Related]

  • 9. Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.
    Gomy I, Molfetta GA, de Andrade Barreto E, Ferreira CA, Zanette DL, Casali-da-Rocha JC, Silva WA.
    Fam Cancer; 2010 Dec 20; 9(4):635-42. PubMed ID: 20567917
    [Abstract] [Full Text] [Related]

  • 10. [Von Hippel-Lindau disease: recent genetic progress and patient management. Francophone Study Group of von Hippel-Lindau Disease (GEFVH)].
    Richard S, Giraud S, Beroud C, Caron J, Penfornis F, Baudin E, Niccoli-Sire P, Murat A, Schlumberger M, Plouin PF, Conte-Devolx B.
    Ann Endocrinol (Paris); 1998 Dec 20; 59(6):452-8. PubMed ID: 10189987
    [Abstract] [Full Text] [Related]

  • 11. The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
    Gläsker S, Bender BU, Apel TW, Natt E, van Velthoven V, Scheremet R, Zentner J, Neumann HP.
    J Neurol Neurosurg Psychiatry; 1999 Dec 20; 67(6):758-62. PubMed ID: 10567493
    [Abstract] [Full Text] [Related]

  • 12. 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 20; 119(11):1659-65. PubMed ID: 11709017
    [Abstract] [Full Text] [Related]

  • 13. The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
    Abbott MA, Nathanson KL, Nightingale S, Maher ER, Greenstein RM.
    Am J Med Genet A; 2006 Apr 01; 140(7):685-90. PubMed ID: 16502427
    [Abstract] [Full Text] [Related]

  • 14. Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.
    Nielsen SM, Rubinstein WS, Thull DL, Armstrong MJ, Feingold E, Stang MT, Gnarra JR, Carty SE.
    Am J Med Genet A; 2011 Jan 01; 155A(1):168-73. PubMed ID: 21204227
    [Abstract] [Full Text] [Related]

  • 15. Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.
    Hes F, Zewald R, Peeters T, Sijmons R, Links T, Verheij J, Matthijs G, Leguis E, Mortier G, van der Torren K, Rosman M, Lips C, Pearson P, van der Luijt R.
    Hum Genet; 2000 Apr 01; 106(4):425-31. PubMed ID: 10830910
    [Abstract] [Full Text] [Related]

  • 16. Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease.
    Hasani-Ranjbar S, Amoli MM, Ebrahim-Habibi A, Haghpanah V, Hejazi M, Soltani A, Larijani B.
    Fam Cancer; 2009 Apr 01; 8(4):465-71. PubMed ID: 19649731
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Von Hippel-Lindau disease: a single gene, several hereditary tumors.
    Crespigio J, Berbel LCL, Dias MA, Berbel RF, Pereira SS, Pignatelli D, Mazzuco TL.
    J Endocrinol Invest; 2018 Jan 01; 41(1):21-31. PubMed ID: 28589383
    [Abstract] [Full Text] [Related]

  • 19. Metastases to hemangioblastomas in von Hippel-Lindau disease.
    Jarrell ST, Vortmeyer AO, Linehan WM, Oldfield EH, Lonser RR.
    J Neurosurg; 2006 Aug 01; 105(2):256-63. PubMed ID: 17219831
    [Abstract] [Full Text] [Related]

  • 20. von Hippel-Lindau disease type 2A in a family with a duplicated 21-base-pair in-frame insertion mutation in the VHL gene.
    Miyagawa Y, Nakazawa M, Noda Y, Ito S, Ohguro H.
    Graefes Arch Clin Exp Ophthalmol; 2003 Mar 01; 241(3):241-4. PubMed ID: 12644949
    [Abstract] [Full Text] [Related]

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