Associated Papers
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease.
Ritter DI et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pediatric and adolescent von Hippel-Lindau disease: tumor profiles, genotype-phenotype correlation and comparison with adults.
Sharma A et al.
Journal of Endocrinological Investigation, 2025
Advancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INT2GRATE Oncology Consortium.
Koeller DR et al.
Cancers, 2025
Genotype-phenotype correlation in Iranian retinal hemangioblastoma patients and genetic diagnosis algorithm for Von Hippel-Lindau disease.
Azimi F et al.
Ophthalmic Genetics, 2025
VHL Syndrome with Diabetes Mellitus, and Pulmonary and Thyroid Nodules: A Case Report.
Peng Z et al.
Journal of Kidney Cancer and Vhl, 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
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 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
Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans.
Hwang S et al.
Plos One, 2024
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K et al.
Human Molecular Genetics, 2023
Investigation of germline VHL variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis.
Naseripour M et al.
Ophthalmic Genetics, 2023
Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients.
Lee SH et al.
Korean Journal of Ophthalmology : Kjo, 2022
Von Hipple-Lindau disease complicated with central retinal vein occlusion: a case report.
Chen X et al.
Bmc Ophthalmology, 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
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.
Kim JH et al.
Journal of Medical Genetics, 2022
VHL syndrome without clear family history: A rare case report and literature review of Chinese patients.
Li Y et al.
Frontiers in Neurology, 2022
Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population.
Choi H et al.
Endocrinology and Metabolism (seoul, Korea), 2020
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel-Lindau Disease.
Hong B et al.
Frontiers in Genetics, 2019
Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.
Newey PJ et al.
Journal of the Endocrine Society, 2017
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
von Hippel-Lindau development in children and adolescents.
Launbjerg K et al.
American Journal of Medical Genetics. Part A, 2017
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
Lee JS et al.
Bmc Medical Genetics, 2016
A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas.
Heo SJ et al.
Cancer Research and Treatment, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center.
Park TY et al.
Scandinavian Journal of Gastroenterology, 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 mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.
Hwang S et al.
Journal of Human Genetics, 2014
Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.
Forman JR et al.
Proteins, 2009