Associated Papers
Genotype-phenotype correlation in Iranian retinal hemangioblastoma patients and genetic diagnosis algorithm for Von Hippel-Lindau disease.
Azimi F et al.
Ophthalmic Genetics, 2025
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
Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease.
Knoblauch AL et al.
Journal of Neuro-oncology, 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature 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
Investigation of germline VHL variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis.
Naseripour M et al.
Ophthalmic Genetics, 2023
Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.
Lima JV et al.
Endocrine Oncology (bristol, England), 2023
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
Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study.
Dhanda M et al.
World Journal of Surgery, 2022
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
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
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 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
Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.
Erlic Z et al.
Endocrine-related Cancer, 2010
Genetic analysis of von Hippel-Lindau disease.
Nordstrom-O'Brien M et al.
Human Mutation, 2010
The Warburg effect is genetically determined in inherited pheochromocytomas.
Favier J et al.
Plos One, 2009
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
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.
Boedeker CC et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?
Pigny P et al.
European Journal of Endocrinology, 2009
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
Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.
Amar L et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
Gallou C et al.
Human Mutation, 2004
Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes.
Bauters C et al.
Journal of Medical Genetics, 2003
[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