Von Hippel-Lindau Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Von Hippel-Lindau Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Von Hippel-Lindau Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
[Clinical characteristics of peptic ulcer in metallurgists].
|
982991 |
1976 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Chromosome 3p may therefore contain two loci for renal cell carcinoma: one gene (or genes) in 3p13-p14 and the VHL gene in 3p25-p26, whose aberration is also associated with other typical manifestations of VHL.
|
2011596 |
1991 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The characterization of the VHL gene should ultimately have important implications not only for patients with VHL, but also for a much larger number of cancer patients in the general population, afflicted with the sporadic counterparts of VHL-associated tumor types, such as renal cell carcinoma.
|
2039154 |
1991 |
Von Hippel-Lindau Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations.
|
7553625 |
1995 |
Von Hippel-Lindau Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.
|
7563486 |
1995 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
(1) Presence or absence of germline mutation in the RET proto-oncogene in affected and unaffected members of the 10 families, and (2) in the absence of RET mutation in a given family, presence or absence of germline mutation in the von Hippel-Lindau (VHL) gene, which is the susceptibility gene involved in a closely related syndrome, von Hippel-Lindau disease.
|
7563486 |
1995 |
Von Hippel-Lindau Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
|
7728151 |
1995 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
|
7728151 |
1995 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
|
7728151 |
1995 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The VHL gene is mutated in the commonest form of kidney carcinoma and in the germ line of patients with VHL.
|
7754256 |
1995 |
Von Hippel-Lindau Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect.
|
7759077 |
1995 |
Von Hippel-Lindau Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cloning and characterization of a mouse gene with homology to the human von Hippel-Lindau disease tumor suppressor gene: implications for the potential organization of the human von Hippel-Lindau disease gene.
|
7850784 |
1995 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Amplification of DNA from selected cell populations was demonstrated by detecting a loss of heterozygosity (LOH) at the von Hippel-Lindau disease (VHL) gene in an atypical renal lesion and a renal cell carcinoma in a kidney of a VHL patient.
|
7887444 |
1995 |
Von Hippel-Lindau Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the VHL tumour suppressor gene in renal carcinoma.
|
7915601 |
1994 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.
|
7977367 |
1994 |
Von Hippel-Lindau Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.
|
7977367 |
1994 |
Von Hippel-Lindau Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.
|
7987306 |
1994 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.
|
7987306 |
1994 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.
|
7987306 |
1994 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas.
|
8187067 |
1994 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We prepared a 2.5-megabase (Mb) restriction map of the region surrounding the VHL gene and identified and characterized overlapping deletions in three unrelated patients affected with VHL.
|
8262521 |
1993 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Four VHL tumours showed LOH on other chromosomes (5q21, 13q, 17q) indicating that homozygous VHL gene mutations may be required but may not be sufficient for tumourigenesis in VHL disease.
|
8270255 |
1994 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The VHL gene has been mapped to chromosome 3p25-p26 by genetic linkage studies and we have previously demonstrated that the VHL gene is tightly linked to the D3S601 locus (Zmax = 18.86 at theta = 0.0) suggesting that D3S601 maps close to the VHL disease gene.
|
8364570 |
1993 |