Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method.
|
8825919 |
1995 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
|
9829912 |
1998 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.
|
19602254 |
2009 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
|
7728151 |
1995 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Detection of a novel germline mutation in the von Hippel-Lindau tumour-suppressor gene by fluorescence-labelled base excision sequence scanning (F-BESS).
|
10563480 |
1999 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
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 |
Renal Cell Carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
Renal Cell Carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters.
|
11921283 |
2002 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Folding and quality control of the VHL tumor suppressor proceed through distinct chaperone pathways.
|
15935760 |
2005 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.
|
19602254 |
2009 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
|
9829912 |
1998 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.
|
9452106 |
1998 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
|
7728151 |
1995 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC.
|
10635329 |
1999 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
|
8592333 |
1995 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
|
9829911 |
1998 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
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
|
|
0.800 |
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
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
|
8956040 |
1996 |