Associated Papers
Whole-Blood Expression of Candidate Genes Linked with Pheochromocytoma in Post-Surgery Patients: A Pilot Study.
Nurkhabinov T et al.
Biomedicines, 2026
Mapping cryptic phosphorylation sites in the human proteome.
Gasparotto D et al.
The Embo Journal, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Hereditary Pheochromocytoma as a Main Manifestation of von Hippel Lindau Disease (vHL) in Childhood - A Long-term Follow-up of 5 Patients with vHL from One Family.
Pasternak-Pietrzak K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Chiorean A et al.
Human Mutation, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
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
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
Krauss T et al.
Endocrine-related Cancer, 2018
The clinical utility of circulating neuroendocrine gene transcript analysis in well-differentiated paragangliomas and pheochromocytomas.
Pęczkowska M et al.
European Journal of Endocrinology, 2017
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
De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.
Ding X et al.
Journal of Neurosurgery, 2014
Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.
Crona J et al.
Plos One, 2014
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
Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.
Assadi F et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2003
Molecular genetic analysis of von Hippel-Lindau disease.
Richards FM et al.
Journal of Internal Medicine, 1998