A genetic register for von Hippel-Lindau disease

Journal of Medical Genetics

Volumn 33, Issue 2, 1996, Pages 120-127

  Maddock, I R ^a   Moran, A ^b   Maher, E R ^f   Teare, M D ^b   Norman, A ^a   Payne, S J ^f   Whitehouse, R ^e   Dodd, C ^d   Lavin, M ^d   Hartley, N ^a   Super, M ^c   Evans, D G R ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b CHRISTIE HOSPITAL   (United Kingdom)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^d MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

^e MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Genetic register; Von Hippel Lindau disease

Indexed keywords

ADOLESCENT; ADULT; ANGIOMA; ARTICLE; BRAIN TUMOR; CLINICAL FEATURE; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; HEMANGIOBLASTOMA; HETEROZYGOTE; HUMAN; HUMAN CELL; KIDNEY CARCINOMA; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; ONSET AGE; PHEOCHROMOCYTOMA; POPULATION GENETICS; PRIORITY JOURNAL; REGISTER; SCHOOL CHILD; SURVIVAL TIME; VON HIPPEL LINDAU DISEASE;

EID: 19144371868     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.2.120     Document Type: Article

References (22)

1. Melmon KL, Rosen SW. Lindau's disease. Review of the literature and study of a large kindred. Am J Med 1964; 36:595-617.
2. Lamiell JM, Salazar FG, Hsia YE. Von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine (Baltimore) 1989;68:1-29.
3. Maher ER, Yates JRW, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990;77:1151-63.
4. Maher ER, Moore AT. Von Hippel-Lindau disease. Br J Ophthalmol 1992;76:743-5.
5. 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: 268-9.
6. Maher ER, Bentley E, Payne SJ, et al. Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers. J Med Genet 1992;29:902-5.
7. Crossey PA, Maher ER, Jones MH, et al. Genetic linkage between Von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus. Hum Molec Genet 1993;2:279-82.
8. Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumour suppressor gene. Science 1993;260:1317-20.
9. Harries RWJ. A rational approach to radiological screening in von Hippel-Lindau disease. J Med Screening 1994;1: 88-95.
10. 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 1988;66:233-19.
11. Martz CH. Von Hippel-Lindau disease: a genetic condition predisposing tumour formation. Oncology Nursing Forum 1991;18:545-51.
12. Littler M, Harper PS. A regional register for inherited cancers. BMJ 1989;298:1689-91.
13. Huson SM, Harper PS, Hourihan MD, Cole G, Weeks RD, Compston DAS. Cerebellar haemangioblastoma and von Hippel-Lindau disease. Brain 1986;109:1297-310.
14. Maher ER, Bentley E, Yates JRW, et al. Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis. J Neurol Sci 1990;100:27-30.
15. Richards FM, Crossey PA, Phipps ME, et al. Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene. Hum Molec Genet 1994; 3:595-8.
16. Crossey PA, Richards FM, Foster K, et al. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Molec Genet 1994;3:1303-8.
17. Mäher ER, Iselius L, Yates JRW, et al. Von Hippel-Lindau disease: a genetic study. J Med Genet 1991;28:443-7.
18. Office of Population Censuses and Surveys. Vital Statistics, 1993. London: HMSO, 1994.
19. Neumann HPH, Wiestler OD. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 1991;337:1052-4.
20. Horton WA, Wong V, Eldridge R. Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members. Arch Intern Med 1976;136: 769-77.
21. Davies DR, Norman AM, Whitehouse RW, Evans DGR. Non-expression of von Hippel-Lindau phenotype in an obligate carrier. Clin Genet 1994;45:104-6.
22. Tada S, Yamagishi J, Kobayashi H, Hata Y, Kobari T. The incidence of simple renal cyst by computed tomography. Clin Radial 1983;34:437-9.