Associated Papers
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Pheochromocytoma in von Hippel-Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma.
Li T et al.
Clinical Endocrinology, 2025
Molecular chaperones: Guardians of tumor suppressor stability and function.
Heritz JA et al.
Oncotarget, 2024
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 2024
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
Exploring the anticancer potential of hydrogen sulfide and BAY‑876 on clear cell renal cell carcinoma cells: Uncovering novel mutations in VHL and KDR genes among ccRCC patients.
Hamadamin PS et al.
Molecular and Clinical Oncology, 2024
[Preclinical diagnostics of von Hippel-Lindau syndrome in a child].
Malievskiy OA et al.
Problemy Endokrinologii, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Surveillance in Children and Adolescents with von Hippel-Lindau (VHL)-Related Pheochromocytomas and Paragangliomas: A Survey of MET and Freiburg-VHL Registries in Germany.
Kotsis F et al.
Journal of Kidney Cancer and Vhl, 2024
Genomic profiles of renal cell carcinoma in a small Chinese cohort.
Tai S et al.
Frontiers in Oncology, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
Risk prediction for metastasis of clear cell renal cell carcinoma using digital multiplex ligation-dependent probe amplification.
Yoshikawa Y et al.
Cancer Science, 2022
SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas.
Manotas MC et al.
Frontiers in Genetics, 2022
Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome.
Murro V et al.
Molecular Vision, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Role of [68Ga]DOTANOC PET/computed tomography and [131I]MIBG scintigraphy in the management of patients with pheochromocytoma and paraganglioma: a prospective study.
Singh D et al.
Nuclear Medicine Communications, 2020
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Winter H et al.
Cancers, 2019
Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.
Albattal S et al.
Oncotarget, 2019
Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.
Neumann HPH et al.
Jama Network Open, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Differential Expression of PD-L1 Between Sporadic and VHL-Associated Hereditary Clear-Cell Renal Cell Carcinoma and Its Correlation With Clinicopathological Features.
Hong B et al.
Clinical Genitourinary Cancer, 2019
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
Arginine refolds, stabilizes, and restores function of mutant pVHL proteins in animal model of the VHL cancer syndrome.
Shmueli MD et al.
Oncogene, 2019
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
Krauss T et al.
Endocrine-related Cancer, 2018
Clinical and molecular characteristics of unicentric mediastinal Castleman disease.
Legras A et al.
Journal of Thoracic Disease, 2018
Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.
Razafinjatovo C et al.
Bmc Cancer, 2016
Genomic profiling of the genes on chromosome 3p in sporadic clear cell renal cell carcinoma.
Togo Y et al.
International Journal of Oncology, 2016
Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.
de Leng WW et al.
Plos One, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).
Ricketts CJ et al.
Plos One, 2015
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
VHL gene alterations in Italian patients with isolated renal cell carcinomas.
Muscarella LA et al.
The International Journal of Biological Markers, 2013