Associated Papers
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
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
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Poll SR et al.
Plos Genetics, 2022
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
[Evolution of molecular genetic methods in the clinical diagnosis of hereditary endocrine tumour syndromes].
Sarkadi B et al.
Orvosi Hetilap, 2018
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C et al.
Haematologica, 2016
Isoform-specific interactions of the von Hippel-Lindau tumor suppressor protein.
Minervini G et al.
Scientific Reports, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas.
Gergics P et al.
European Journal of Endocrinology, 2009
Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family.
Patocs A et al.
Bmc Medical Genetics, 2008
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
Gallou C et al.
Human Mutation, 2004
[Von Hippel-Lindau disease: a hereditary disease that impacts multiple tissues].
Richard S et al.
Presse Medicale (paris, France : 1983), 1998
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
Olschwang S et al.
Human Mutation, 1998
Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.
Prowse AH et al.
American Journal of Human Genetics, 1997
Von hippel-lindau disease: a genetic and clinical review.
Haddad NM et al.
Seminars in Ophthalmology, 0
Pheochromocytoma presenting with QT prolongation and catecholamine-induced myocarditis in a child.
Saengsin K et al.
Annals of Pediatric Cardiology, 0