References
- Singh AD, Shields CL, Shields JA. von Hippel-Lindau disease. Surv Ophthalmol. 2001;46: 117–142.
- Maher ER, Yates JRW, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 199o;77:115I–1163.
- Maher ER, Iselius L, Yates JRW, et al. von Hippel-Lindau disease: a genetic study. J Med Genet. 1991;28: 443–447.
- Choyke PL, Glenn GM, McClellan M, et al. von Hippel-Lindau disease: genetic, clinical and imaging features. Radiology. 1995;146:629–642.
- Jennings AM, Smith C, Cole DR, et al. von Hippel-Lindau disease in a large British family: clinicopathological features and recommendations for screening and follow-up. Q J Med. 1998;66:233–249.
- Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993;260:1317–1320.
- Stolle C, Glenn G, Zbar B, et al. Improved detections of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat 1998;12:417–423.
- Zbar B, Kishida T, Chen F, et al. Germline mutations in the von Hippel-Lindau disease (VHL) gene in the families from North America, Europe, and Japan. Hum Mutat. 1996;8:348–357.
- Chen F, Kishida T, Tao M, et al. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlation with phenotype. Hum Mutat. 1995;5: 66–75.
- Webster AR, Maher ER, Moore AT. Clinical characteristics of ocular angiomatosis in Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol. 1999;117:371–377.
- Elston RC, Johnson WD. Essentials of biostatistics. 2nd ed. Philadelphia: F.A. Davis, 1994:65–85.
- Singh AD, Shields JA, Shields CL. Solitary retinal capillary hemangioma: hereditary (von Hippel-Lindau disease) or non hereditary? Arch Ophthalmol. 2001119: 232–234.
- Geller G, Botkin JR, Green MJ, et al. Genetic testing for susceptibility to adult-onset cancer. The process and content of informed consent. J Am Med Assoc. 1997;277:1467–1474.
- National Advisory Council for Human Genome Research. Statement on use of DNA testing for presymptomatic identification of cancer risk. J Am Med Assoc. 1994; 271:785.
- Ganguly A, Rock M, Prockop DJ. Conformation sensitive gel electrophoresis for rapid detection of single-base differences in double stranded PCR products and DNA fragments: evidence of solvent induced bends in DNA heteroduplexes. Proc Natl Acad Sci. 1993;90:10325–10329.
- Williams CJ, Rock M, Considine E, et al. Three new point mutations in type II collagen (COL2AI) and identification of fourth family with the COL2AI Arg 519—> Cys base substitution using conformation sensitive gel electrophoresis. Hum Mol Genet. 1995;4:309–312.
- Gnarra J, Tory K, Weng Y, et al. VHL tumor suppressor gene mutations in renal carcinogenesis. Nat Genet. 1994;7:85-9o.
- Kuzmin I, Dub M-M, Latif F, et al. Identification of promoter of the human von Hippel-Lindau disease tumor suppressor gene. Onco gene. 1995;10:2185–2194.
- Webster AR, Maher ER, Bird AC, et al. A clinical and molecular genetic analysis of solitary ocular angioma. Ophthalmology. 1999;100:623–629.
- Richards FM, Payne SJ, Zbar B, et al. Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene. Hum Mol Genet. 1995;4:2139–2143.
- Sgambati MT, Stolle C, Choyke PL, et al. Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. Am J Hum Genet. 2000;66:84–91.
- Webster AR, Maher ER, Bird AC, Moore AT. Risk of multisystem disease in isolated ocular angioma (haemangioblastoma). J Med Genet. 2000;37:62–63.