VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality

Journal of Medical Genetics

Volumn 38, Issue 8, 2001, Pages 508-514

  Bender, B U ^a   Eng, C ^b,c   Olschewski, M ^a   Berger, D P ^a   Laubenberger, J ^a   Altehofer C ^a   Kirste, G ^a   Orszagh, M ^a   Van Velthoven, V ^d   Miosczka, H ^a   Schmidt, D ^d   Neumann, H P H ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b OHIO STATE UNIVERSITY   (United States)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d NONE

Author keywords

C.505 T C germline mutation; VHL gene; VHL morbidity; VHL mortality

Indexed keywords

ADULT; AGED; AGING; ARTICLE; BASE PAIRING; CONTRAST ENHANCEMENT; FEMALE; GENE INACTIVATION; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SCREENING; GERM LINE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MORTALITY; NUCLEAR MAGNETIC RESONANCE IMAGING; PENETRANCE; PRIORITY JOURNAL; VON HIPPEL LINDAU DISEASE;

EID: 0034887876     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.8.508     Document Type: Article

References (28)

1. Lindau's disease. Review of the literature and study of a single large kindred
2. Identification of the von Hippel-Lindau disease tumor suppressor gene
3. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype
4. Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
5. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlation with disease phenotype
6. Clinical features and natural history of von Hippel-Lindau disease
7. Recommendations for a nomenclature system for human gene mutations
8. Von Hippel-Lindau (VHL) disease in the Black Forest region of Germany: Evidence for a founder effect
9. Von Hippel-Lindau (VHL) disease: Distinct phenotypes suggest more than one mutant allele at the VHL locus
10. Von Hippel-Lindau disease
11. The radiographic manifestations of von Hippel-Lindau disease
12. Diagnosis and management of asymptomatic renal cell carcinomas in von Hippel-Lindau syndrome
13. Renal cell carcinoma in von Hippel-Lindau syndrome
14. Von Hippel-Lindau disease affecting 43 members of a single kindred
15. Clustering of features of von Hippel-Lindau syndrome: Evidence for a complex genetic locus
16. A rational approach to radiological screening in von Hippel-Lindau disease
17. Von Hippel-Lindau disease: Genetic, clinical and imaging features
18. Phenotypic expression in von Hippel-Lindau disease: Correlations with germline VHL gene mutations
19. Von Hippel-Lindau disease
20. Islet cell tumors in von Hippel-Lindau disease: Increased prevalence and relationship to the multiple endocrine neoplasias
21. Germ cell tumor of testis in a patient with von Hippel-Lindau disease
22. Von Hippel-Lindau syndrome
23. Renal cysts, renal cancer and von Hippel-Lindau disease