|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
|
9829912 |
1998 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.
|
12624160 |
2003 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
|
10567493 |
1999 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
"Is the P25L a ""real"" VHL mutation?"
|
11257211 |
2001 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma.
|
16572651 |
2006 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.
|
23512077 |
2013 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
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 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.
|
10823831 |
2000 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
[Surgical treatment of a pheocromocytoma bilateral in a 5 year old patient with the von Hippel-Lindau disease].
|
15002726 |
2004 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Molecular pathology of von HippelLindau disease and the VHL tumour suppressor gene.
|
14987375 |
2001 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.
|
23772956 |
2013 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system.
|
11309459 |
2001 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality.
|
11483638 |
2001 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function.
|
10205047 |
1999 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A type 2B von Hippel-Lindau family masquerading as a metastatic sporadic renal cell carcinoma.
|
12603429 |
2003 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular pathology of von HippelLindau disease and the VHL tumour suppressor gene.
|
14987375 |
2001 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.
|
25867206 |
2016 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease.
|
20064270 |
2010 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.
|
11331613 |
2001 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in the von Hippel-Lindau gene in Italian patients.
|
19464396 |
2009 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.
|
17688370 |
2007 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Frequent genetic changes in childhood pheochromocytomas.
|
17102083 |
2006 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas.
|
19574279 |
2009 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.
|
7987306 |
1994 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Ubiquitination of a novel deubiquitinating enzyme requires direct binding to von Hippel-Lindau tumor suppressor protein.
|
11739384 |
2002 |