|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
The VHL p.P81S mutation is most likely a low-penetrant pathogenic variant predisposing to RCC development.
|
28503092 |
2017 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
|
25394175 |
2015 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Canadian guideline on genetic screening for hereditary renal cell cancers.
|
24319509 |
2013 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
|
16502427 |
2006 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.
|
10408776 |
1999 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC.
|
10635329 |
1999 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.
|
10533030 |
1999 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
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
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.
|
9452106 |
1998 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
|
9829911 |
1998 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online.
|
10627136 |
1998 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
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
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
|
8730290 |
1996 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.
|
8634692 |
1995 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.
|
8825918 |
1995 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
|
7728151 |
1995 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
|
8592333 |
1995 |
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
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
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of the von Hippel-Lindau disease tumor suppressor gene.
|
8493574 |
1993 |