Associated Papers
Utility of Next-Generation Sequencing in Renal Neoplasia, Including Tumors With Clear Cytoplasm and Rare Phenotypes (ELOC/MITF Alterations and Mismatch Repair Deficiency).
McCarthy M et al.
Mayo Clinic Proceedings, 2026
A long-term glioblastoma survivor with Lynch syndrome: a case report of tumor molecular and microenvironment characterization.
Zhou Y et al.
Discover Oncology, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Pembrolizumab efficacy in a tumor mutation burden-high glioblastoma patient: A case study and implications for precision oncology.
Nishiyama A et al.
Cancer Science, 2025
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
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer.
Fernández-Castillejo S et al.
Journal of Medical Genetics, 2023
Preliminary Study of Whole-Genome Bisulfite Sequencing and Transcriptome Sequencing in VHL Disease-Associated ccRCC.
Li L et al.
Molecular Diagnosis & Therapy, 2023
Clinical and genetic characteristics in lymphoma patients with a second solid malignancy.
Zhou D et al.
Frontiers in Oncology, 2023
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Chiorean A et al.
Human Mutation, 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
Tracing Clonal Dynamics Reveals that Two- and Three-dimensional Patient-derived Cell Models Capture Tumor Heterogeneity of Clear Cell Renal Cell Carcinoma.
Bolck HA et al.
European Urology Focus, 2021
Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.
Meng H et al.
Biomed Research International, 2020
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
The incidence of consecutive manifestations in Von Hippel-Lindau disease.
van der Horst-Schrivers ANA et al.
Familial 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
Adrenal adenoma in von Hippel-Lindau syndrome: A case report with review of literature.
Palui R et al.
Journal of Cancer Research and Therapeutics, 2019
Noncoding RNA Expression and Targeted Next-Generation Sequencing Distinguish Tubulocystic Renal Cell Carcinoma (TC-RCC) from Other Renal Neoplasms.
Lawrie CH et al.
The Journal of Molecular Diagnostics : Jmd, 2018
von Hippel-Lindau development in children and adolescents.
Launbjerg K et al.
American Journal of Medical Genetics. Part A, 2017
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
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Lee JY et al.
Oncotarget, 2015
Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.
Vikkath N et al.
Familial Cancer, 2015
Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.
Zhang J et al.
Chinese Medical Journal, 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
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with atypical pathology of endolymphatic sac tumor.
Yang X et al.
International Journal of Clinical and Experimental Pathology, 2014
[Endolymphatic sac tumor with von Hippel-Lindau disease: report of two cases with testing of von Hippel-Lindau gene].
Su Y et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2013
Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma.
Losonczy G et al.
Bmc Medical Genetics, 2013
Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.
Taylor C et al.
International Journal of Oncology, 2012
Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.
Wu P et al.
Journal of Human Genetics, 2012
VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.
Rechsteiner MP et al.
Cancer Research, 2011
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review.
Rao Q et al.
Annals of Diagnostic Pathology, 2010
[Clinicopathological features and molecular genetic analysis of endolymphatic sac tumor: report of 2 cases].
Rao Q et al.
Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2010
[Methods for the analysis of large gene deletions and their application in some hereditary diseases].
Gergics P et al.
Orvosi Hetilap, 2009
Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: characterization by VHL/HIF pathway proteins expression.
Périgny M et al.
The American Journal of Surgical Pathology, 2009
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
Gallou C et al.
Human Mutation, 2004
Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas.
Cybulski C et al.
Hereditary Cancer in Clinical Practice, 2004
Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma.
Gallou C et al.
Pharmacogenetics, 2001