Associated Papers
Multigenerational VHL family characterized by pathogenic germline ELOC variant: Response to belzutifan.
Vocke CD et al.
Urologic Oncology, 2026
A Novel Targeted Sequence for Chromosome 11p15.5 Maternal Loss in SDHD-Related Paragangliomas.
Lai HP et al.
Genes, Chromosomes & Cancer, 2026
Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region.
Velayutham D et al.
Cells, 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
Prediction tools for assessing functional impacts of gene mutations in Clear Cell Renal Cell Carcinoma: A comparative study.
Yang CH et al.
Computers in Biology and Medicine, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Clinicopathological and genomic analysis of pediatric pheochromocytoma and sympathetic paraganglioma.
Kimura N et al.
Endocrine Journal, 2025
Pheochromocytoma in von Hippel-Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma.
Li T et al.
Clinical Endocrinology, 2025
Comprehensive case report and literature review on perioperative management of multiple pheochromocytoma in a pediatric patient.
Yu S et al.
Frontiers in Pediatrics, 2025
Fibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.
Puttonen M et al.
Plos One, 2025
Genetic landscape of Romanian PPGLs.
Lider-Burciulescu SM et al.
Journal of Cellular and Molecular Medicine, 2024
Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel.
Patócs A et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
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
Genetic profiling of metastatic colon adenocarcinoma in Iranian patients: Insights into pathogenic variants and tumor characteristics.
Boroonsara P et al.
Cancer Genetics, 2024
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 2024
Metabolomic landscape of renal cell carcinoma in von Hippel-Lindau syndrome in a Chinese cohort.
Zhang Z et al.
Iscience, 2024
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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Expression of somatostatin receptors in hemangioblastomas associated with von Hippel-Lindau disease as a novel diagnostic, therapeutic, and follow-up opportunity: A case report and literature review.
Brabo EP et al.
Archives of Endocrinology and Metabolism, 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
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
A Case of Von Hippel-Lindau Disease With Recurrence of Paraganglioma and No Other Associated Symptoms: The Importance of Genetic Testing and Establishing Follow-Up Policies.
Okada N et al.
Cureus, 2023
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K et al.
Human Molecular Genetics, 2023
Hereditary pheochromocytoma with the von Hippel-Lindau gene mutation in a child: A case report.
Zheng S et al.
Asian Journal of Surgery, 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
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
Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study.
Dhanda M et al.
World Journal of Surgery, 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
PANCREATODUODENECTOMY IN PATIENT WITH VON HIPPEL-LINDAU DISEASE: A LITERATURE REVIEW.
Eulálio JMR et al.
Arquivos Brasileiros De Cirurgia Digestiva : Abcd = Brazilian Archives of Digestive Surgery, 2022
Retinal Glial Cells in Von Hippel-Lindau Disease: A Novel Approach in the Pathophysiology of Retinal Hemangioblastoma.
Pilotto E et al.
Cancers, 2021
Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.
Yonamine M et al.
Cancers, 2021
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population.
Choi H et al.
Endocrinology and Metabolism (seoul, Korea), 2020
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
Buffet A et al.
Journal of Medical Genetics, 2020
Ovarian Steroid Cell Tumor in an Adolescent With Von Hippel-Lindau Syndrome: A Case Report and Review of the Literature.
Marques A et al.
International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2020
Bilateral pheochromocytoma: Clinical characteristics, treatment and longitudinal follow-up.
Kittah NE et al.
Clinical Endocrinology, 2020
Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.
Bao M et al.
Journal of Medical Genetics, 2020
Clinical diagnosis, treatment and screening of the VHL gene in three von Hippel-Lindau disease pedigrees.
Lin G et al.
Experimental and Therapeutic Medicine, 2020
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020