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Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family Cover

Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family

By: S Kinyas,  SA Ozal,  H Guclu,  V Gurlu,  H Esgin and  H Gurkan  
Open Access
|Jul 2016

References

  1. Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 1990; 77(283): 1151-1163.
  2. Singh AD, Shields CL, Shields JA. von Hippel-Lindau disease. Surv Ophtalmol. 2001; 46(2): 117-142.
  3. Kreusel KM, Bechrakis NE, Krause L, Neumann HP, Foerster MH. Retinal angiomatosis in von Hippel-Lindau disease: A longitudinal ophthalmologic study. Ophthalmology. 2006; 113(8): 1418-1424.
  4. Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993; 260(5112): 1317-1320.
  5. Woodward ER, Buchberger A, Clifford SC, Hurst LD, Affara NA, Maher ER. Comparative sequence analysis of the VHL suppressor gene. Genomics. 2000; 65(3): 253-265.
  6. Harbour JW. Tumor suppressor genes in ophthalmology. Surv Ophthalmol. 1999; 44(3): 235-246.
  7. Wong WT, Agron E, Coleman HR, Reed GF, Csaky K, Peterson J, et al. Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis. Arch Ophthalmol. 2007; 125(2): 239-245.
  8. Welch RB. Fluorescein angiography in sickle-cell retinopathy and von Hippel-Lindau disease. Int Ophthalmol Clin. 1977; 17(2): 137-154.
  9. Sato A, Fukui E, Ohta K. Retinoschisis detected by spectral-domain optical coherence tomography in von Hippel-Lindau disease. Retin Cases Brief Rep. 2012; 6(3): 317-319.
  10. Hes FJ, van der Luijt RB, Janssen AL, Zewald RA, de Jong GJ, Lenders JW, et al. Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. Clin Genet. 2007; 72(2): 122-129.
  11. Chew EY. Ocular manifestations of von Hippel-Lindau disease: Clinical and genetic investigations. Trans Am Ophthalmol Soc. 2005; 103: 495-511.
Language: English
Page range: 65 - 70
Published on: Jul 9, 2016
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2016 S Kinyas, SA Ozal, H Guclu, V Gurlu, H Esgin, H Gurkan, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.