Von Hippel-Lindau Syndrome
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0.810 |
CausalMutation
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CLINVAR |
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Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
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UNIPROT |
Identification of the von Hippel-Lindau disease tumor suppressor gene.
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8493574 |
1993 |
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
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UNIPROT |
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.
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7987306 |
1994 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.
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8634692 |
1995 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.
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8825918 |
1995 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
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7728151 |
1995 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
|
8592333 |
1995 |
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
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UNIPROT |
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
|
8956040 |
1996 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
|
8730290 |
1996 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
|
9829912 |
1998 |
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.
|
9452032 |
1998 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.
|
9452106 |
1998 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
|
9829911 |
1998 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online.
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10627136 |
1998 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.
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10408776 |
1999 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC.
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10635329 |
1999 |
Von Hippel-Lindau Syndrome
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0.810 |
GeneticVariation
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UNIPROT |
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.
|
10533030 |
1999 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
Von Hippel-Lindau Syndrome
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0.810 |
GeneticVariation
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UNIPROT |
The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
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16502427 |
2006 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Canadian guideline on genetic screening for hereditary renal cell cancers.
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24319509 |
2013 |
Neoplasms
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0.720 |
GeneticVariation
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BEFREE |
The P81S VHL mutation produces deregulation of HIF factors in cell culture but exhibits a growth advantage in the tumor microenvironment, in part because of suppression of apoptosis (P81S mean = 0.9%, 95% confidence interval = 0.6 to 1.2%; WT mean = 7.6%; 95% confidence interval = 6.4 to 8.8%; P < .001) coupled with sustained proliferation.
|
23990666 |
2013 |
Conventional (Clear Cell) Renal Cell Carcinoma
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0.020 |
GeneticVariation
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BEFREE |
The risk relevance of the P81S von Hippel-Lindau (VHL) gene hotspot mutation identified in clear cell renal cell carcinoma from individuals exposed occupationally to trichloroethylene (TCE) is not known.
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23990666 |
2013 |
Von Hippel-Lindau Syndrome
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|
0.810 |
GeneticVariation
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UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
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24893135 |
2014 |
Neoplasms
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|
0.720 |
GeneticVariation
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CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
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25157968 |
2014 |