Efficacy of gene testing for von Hippel-Lindau disease

Medical Journal of Australia

Volumn 169, Issue 8, 1998, Pages 422-424

  Martin, Roger L ^a   Goldblatt, Jack ^a   Walpole, Ian R ^a  

^a PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUSTRALIA; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC VALUE; EXON; FAMILY HISTORY; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; VON HIPPEL LINDAU DISEASE;

EID: 0032547748     PISSN: 0025729X     EISSN: None     Source Type: Journal    
DOI: 10.5694/j.1326-5377.1998.tb126833.x     Document Type: Article

References (15)

1. Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore. Von Hippel-Lindau syndrome. MIM number 193300. 4 August 1998. .
2. Maher ER, Iselius L, Yates JR, et al. Von Hippel-Lindau disease: a genetic study. J Med Genet 1991; 28: 443-447.
3. Maher ER, Yates JR, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990; 77: 1151-1163.
4. Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993; 260: 1317-1320.
5. Maddock IR, Moran A, Maher ER, et al. A genetic register for von Hippel-Lindau disease. J Med Genet 1996; 33: 120-127.
6. Seizinger BR, Rouleau GA, Ozelius LJ, et al. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 1988; 332: 268-269.
7. Kuzmin I, Duh FM, Latif F, et al. Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene. Oncogene 1995; 10: 2185-2194.
8. Vasen HFA, Mecklin J-R, Meera Khan R Lynch HT. Hereditary non-polyposis colorectal cancer. Lancet 1991; 338: 877.
9. Martin RL, Walpole IR, Goldblatt J. Identification of two sporadically derived mutations in the Von Hippel-Lindau gene. Hum Mutat 1996; 7: 185.
10. Zbar B, Kishida T, Chen F, et al. Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat 1996; 8: 348-357.
11. Whaley JM, Naglich J, Gelbert L, et al. Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am J Hum Genet 1994; 55: 1092-1102.
12. Maher ER, Webster AR, Richards FM, et al. Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. J Med Genet 1996; 33: 328-333.
13. Béroud C, Joly D, Gallou C, et al. Software and database for the analysis of mutations in the VHL gene. Nucleic Acids Res 1998; 26; 256-258.
14. Béroud C, Joly D, Gallou C. Universal VHL-mutation database [database online]. Accessed 28 August 1998. .
15. Renbaum P, Duh FM, Latif F, et al. Isolation and characterization of the full-length 3' untranslated region of the human von Hippel-Lindau tumor suppressor gene. Hum Genet 1996; 98: 666-671.