Associated Papers
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Mougel G et al.
Journal of Medical Genetics, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
Concurrent heterozygous Von-Hippel-Lindau and transmembrane-protein-127 gene mutation causing an erythropoietin-secreting pheochromocytoma in a normotensive patient with severe erythrocytosis.
Negro A et al.
Journal of Hypertension, 2020
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.
Minervini G et al.
Plos Computational Biology, 2019
Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.
Paulo P et al.
The Journal of Molecular Diagnostics : Jmd, 2017
BRAF Inhibition in BRAFV600E-Positive Anaplastic Thyroid Carcinoma.
Lim AM et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2016
Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.
Chou WC et al.
International Journal of Biological Sciences, 2016
An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.
Gossage L et al.
Human Molecular Genetics, 2014
The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension.
Sarangi S et al.
Pediatric Blood & Cancer, 2014
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C et al.
Human Mutation, 2014
Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.
Lanikova L et al.
Blood, 2013
Clinical utility gene card for: familial erythrocytosis.
Hussein K et al.
European Journal of Human Genetics : Ejhg, 2012
HIF pathway mutations and erythrocytosis.
McMullin MF
Expert Review of Hematology, 2010
Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.
Rajasekaran R et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008
Evaluation of "increased" hemoglobin in the JAK2 mutations era: a diagnostic algorithm based on genetic tests.
Tefferi A et al.
Mayo Clinic Proceedings, 2007
Genetic mechanisms underlying regulation of hemoglobin mass.
Agarwal N et al.
Advances in Experimental Medicine and Biology, 2007
[Coinheritance of chromosomes 3 and 11 in the patients with autosomal recessive polycythemia from Chuvachia].
Vasserman NN et al.
Genetika, 2005
Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis.
Cario H et al.
Haematologica, 2005
Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.
Bento MC et al.
Haematologica, 2005
Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.
Pastore Y et al.
American Journal of Human Genetics, 2003
VHL gene alterations in renal cell carcinoma patients: novel hotspot or founder mutations and linkage disequilibrium.
Ma X et al.
Oncogene, 2001