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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]
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]
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 Oct 20; 59(6):452-8. PubMed ID: 10189987 [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]