|
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 |
Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma.
|
26920352 |
2016 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
|
27034144 |
2016 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
|
27439424 |
2016 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.
|
27057652 |
2016 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Phosphorylation-dependent cleavage regulates von Hippel Lindau proteostasis and function.
|
26973240 |
2016 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.
|
27530247 |
2016 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
|
27527340 |
2016 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center.
|
25562111 |
2015 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.
|
25563310 |
2015 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?
|
25557216 |
2015 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Persistent exudative retinal detachment after photodynamic therapy and intravitreal bevacizumab injection for multiple retinal capillary hemangiomas in a patient with von Hippel-Lindau disease.
|
24206762 |
2014 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
|
24555745 |
2014 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.
|
24301059 |
2014 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
|
25371412 |
2014 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.
|
24707167 |
2014 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetic basis of congenital erythrocytosis: mutation update and online databases.
|
24115288 |
2014 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.
|
23772956 |
2013 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization.
|
23626751 |
2013 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
|
23859443 |
2013 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.
|
23772956 |
2013 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Bilateral pheochromocytomas in a child who had hemihypertrophy and alteration in the VHL gene.
|
23327821 |
2013 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Structural insights into the folding defects of oncogenic pVHL lead to correction of its function in vitro.
|
23840444 |
2013 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A deletion mutation of the VHL gene associated with a patient with sporadic von Hippel-Lindau disease.
|
23632291 |
2013 |