|
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 |
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 |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
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 |
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 |
Canadian guideline on genetic screening for hereditary renal cell cancers.
|
24319509 |
2013 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.
|
22825683 |
2012 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.
|
22357542 |
2012 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease.
|
22105611 |
2011 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genetic analysis of von Hippel-Lindau disease.
|
20151405 |
2010 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma.
|
19996202 |
2009 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Germline mutations in the von Hippel-Lindau gene in Italian patients.
|
19464396 |
2009 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germline mutations in the von Hippel-Lindau gene in Italian patients.
|
19464396 |
2009 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia.
|
19304954 |
2009 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.
|
18836774 |
2008 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.
|
18580449 |
2008 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.
|
18580449 |
2008 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlations in von Hippel-Lindau disease.
|
17024664 |
2007 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlations in von Hippel-Lindau disease.
|
17024664 |
2007 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
|
16502427 |
2006 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Pancreatic involvement in von Hippel-Lindau disease: report of two cases and review of the literature.
|
16952288 |
2006 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.
|
17102082 |
2006 |
|
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
|
CLINVAR |
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.
|
12202531 |
2002 |
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.
|
12202531 |
2002 |