|
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 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
|
8592333 |
1995 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.
|
19336503 |
2009 |
|
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 |
GeneticVariation
|
CLINVAR |
Genetic analysis of von Hippel-Lindau disease.
|
20151405 |
2010 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
|
9829912 |
1998 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
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
|
CLINVAR |
Genetic testing in pheochromocytoma or functional paraganglioma.
|
16314641 |
2005 |
|
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 |
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
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.
|
14500403 |
2003 |
|
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 |
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 |
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
|
CLINVAR |
The Warburg effect is genetically determined in inherited pheochromocytomas.
|
19763184 |
2009 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?
|
19029228 |
2009 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.
|
12202531 |
2002 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Germ-line mutations in nonsyndromic pheochromocytoma.
|
12000816 |
2002 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas.
|
19574279 |
2009 |
|
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 |
CausalMutation
|
CLINVAR |
Genetic analysis of von Hippel-Lindau disease.
|
20151405 |
2010 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes.
|
12807974 |
2003 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
The Warburg effect is genetically determined in inherited pheochromocytomas.
|
19763184 |
2009 |