Associated Papers
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Genetic landscape of Romanian PPGLs.
Lider-Burciulescu SM et al.
Journal of Cellular and Molecular Medicine, 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
Bilateral pheochromocytomas: clinical presentation and morbidity rate related to surgery technique and genetic status.
Lider Burciulescu SM et al.
Endocrine Connections, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K et al.
Human Molecular Genetics, 2023
Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.
Winzeler B et al.
Clinical Endocrinology, 2022
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients.
Zhang K et al.
Journal of Medical Genetics, 2022
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
Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.
Ma X et al.
Frontiers in Endocrinology, 2022
Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome.
Penitenti F et al.
Endocrine, 2021
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
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
Krauss T et al.
Endocrine-related Cancer, 2018
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
Casey RT et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Deciphering the impact of somatic mutations in exon 20 and exon 9 of PIK3CA gene in breast tumors among Indian women through molecular dynamics approach.
Sudhakar N et al.
Journal of Biomolecular Structure & Dynamics, 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
Usefulness of Succinate dehydrogenase B (SDHB) immunohistochemistry in guiding mutational screening among patients with pheochromocytoma-paraganglioma syndromes.
Pai R et al.
Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica, 2014
Detection of large deletions in the VHL gene using a Real-Time PCR with SYBR Green.
Ebenazer A et al.
Familial Cancer, 2013
P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization.
John AM et al.
Plos One, 2013
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.
Burnichon N et al.
Human Molecular Genetics, 2011
Genetic analysis of von Hippel-Lindau disease.
Nordstrom-O'Brien M et al.
Human Mutation, 2010
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.
Meyer-Rochow GY et al.
The Journal of Surgical Research, 2009