The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system

Journal of Neurology Neurosurgery and Psychiatry

Volumn 67, Issue 6, 1999, Pages 758-762

  Gläsker, Sven ^a   Bender, Bernhard U ^a   Apel, Thomas W ^a   Natt, Ernst ^a   Van Velthoven, Vera ^a   Scheremet, Rudolf ^a   Zentner, Josef ^a   Neumann, Hartmut P H ^a,b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Haemangioblastoma; VHL gene; Von Hippel Lindau disease

Indexed keywords

DNA;

ADOLESCENT; ADULT; AGED; ANGIOMA; ARTICLE; BRAIN TUMOR; DATA BASE; DISEASE PREDISPOSITION; EXON; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HEMANGIOBLASTOMA; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; VON HIPPEL LINDAU DISEASE;

EID: 0032702779     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.67.6.758     Document Type: Article

References (15)

1. Rubinstein LJ. Tumors of the central nervous system. Atlas of tumor pathology, series 2, fascicle 6. Washington, DC: Armed Forces Institute of Pathology, 1972:235.
2. Neumann HPH, Lips CJM, Hsia YE, Zbar B. Von Hippel-Lindau syndrome. Brain Pathol 1995;5:181-93.
3. Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993;260:1317-20.
4. The American Society of Clinical Oncology. Genetic testing for cancer susceptibility. J Clin Oncol 1996;14:1730-6.
5. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning. Cold Spring Harbor, NY: Cold Spring Harbor Labotatory Press, 1989.
6. Budowle B, Chakraborty R, Giusti AM, et al. Analysis of the VNTR locus D1S80 by PCR followed by high resolution PAGE. Am J Hum Genet 1991;48:137-44.
7. Gnarra JR, Tory K, Weng Y, et al. Mutations of the VHL tumor suppressor gene in renal carcinoma. Nat Genet 1994;7:85-90.
8. Neumann HPH, Bender BU. Genotype-phenotype correlations in von Hippel-Lindau disease. J Intern Med 1998;243:541-5.
9. Beroud C, Joly D, Gallou C, et al. Software and database for the analysis of mutations in the VHL gene. Nucleic Acids Res 1998;26:256-8.
10. Neumann HPH. Basic criteria for clinical diagnosis and genetic counselling in von Hippel-Lindau syndrome. J Vasc Dis 1987;16:220-6.
11. Neumann HPH. Von Hippel-Lindau-Syndrom Unterschätzt und häufig verkannt. Deutsches Àrzteblatt 1993;11: 786-93.
12. Maddock IR, Moran A, Maher ER, et al. A genetic register for von Hippel-Lindau disease. J Med Genet 1996;33:120-7.
13. Lamiell JM, Salazar FG, Hsia YE. Von Hippel-Lindau disease affecting 43 members of a single kindread. Medicine (Baltimore) 1989;68:1-29.
14. Stolle C, Glenn G, Zbar B, et al. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat 1998;12:417-23.
15. Neumann HPH, Eggert HR, Weigel K, et al. Hemangioblastomas of the central nervous system. J Neurosurg 1989;70: 24-30.