Associated Papers
The somatic mutation landscape of normal gastric epithelium.
Coorens THH et al.
Nature, 2025
[Familial erythrocytosis type 2 due to VHL germline mutations: a case report and literature review].
Liu NN et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2025
Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.
Jo KH et al.
Annals of Laboratory Medicine, 2024
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 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
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.
Park JS et al.
Cancer Research and Treatment, 2022
Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel-Lindau gene: a case report and review of the literature.
Anno M et al.
Endocrine Journal, 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
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.
Kim JH et al.
Journal of Medical Genetics, 2022
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T).
Alosi D et al.
Current Genomics, 2017
15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas.
O'Toole SM et al.
Endocrine-related Cancer, 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
Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea.
Kim JH et al.
Clinical Genetics, 2014
VHL and HIF-1α: gene variations and prognosis in early-stage clear cell renal cell carcinoma.
Lessi F et al.
Medical Oncology (northwood, London, England), 2014
Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation.
Formenti F et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.
Castellano M et al.
Annals of the New York Academy of Sciences, 2006
SDH mutations in patients affected by paraganglioma syndromes: a personal experience.
Mannelli M et al.
Annals of the New York Academy of Sciences, 2006
Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation.
Velasco A et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2005
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.
Astrom K et al.
Human Genetics, 2003
Phenotypic dichotomy in mitochondrial complex II genetic disorders.
Baysal BE et al.
Journal of Molecular Medicine (berlin, Germany), 2001