Associated Papers
<p>Prolyl hydroxylase domain proteins: Localization, regulation, function and their role in erythropoiesis (Review)</p>.
Hou Y et al.
Molecular Medicine Reports, 2026
Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome.
Cole Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Frequency and clinical features of germline pathogenic variants in sarcoma: a case-control study.
Rodriguez-Hernandez A et al.
Journal of the National Cancer Institute, 2026
Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.
Fanidis D et al.
Genomics, 2026
JAK2 Unmutated Erythrocytosis: 2026 Update on Diagnosis and Management.
Gangat N et al.
American Journal of Hematology, 2025
Von Hippel-Lindau/Hypoxia Inducible Factor Axis in Glioblastoma.
Flores I et al.
International Journal of Molecular Sciences, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
A schema for sporadic and heritable disease pathogenesis integrating spatiotemporal distribution with the character of genetic variants.
Alkaissi H et al.
Communications Medicine, 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
Pseudohypoxia caused by germline genetic alterations in the VHL gene is associated with increased diabetes and cardiovascular risk: a UK biobank study.
Halperin R et al.
Cardiovascular Diabetology, 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
"Incidentally" discovered Von Hippel Lindau disease: an emerging clinical phenotype.
Trinh MN et al.
The Oncologist, 2025
Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis.
Melli B et al.
Experimental and Therapeutic Medicine, 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
Genetic evidence for the suppressive role of zebrafish vhl targeting mavs in antiviral innate immunity during RNA virus infection.
Sun X et al.
Journal of Immunology (baltimore, Md. : 1950), 2025
Fibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.
Puttonen M et al.
Plos One, 2025
von Hippel-Lindau syndrome-related congenital polycythemia and response to belzutifan.
Siqueira Do Amaral P et al.
Haematologica, 2024
Clinician-Reported Management Recommendations in Response to Universal Germline Genetic Testing in Patients With Prostate Cancer.
Shore N et al.
The Journal of Urology, 2024
Clinicopathologic and Molecular Characteristics of Resected Thoracic Mass Lesions in the Pediatric Population: A 25-Year Institutional Experience From a Tertiary Care Center.
Villalba JA et al.
Archives of Pathology & Laboratory Medicine, 2024
Endothelial PHD2 deficiency induces apoptosis resistance and inflammation via AKT activation and AIP1 loss independent of HIF2α.
Wang S et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2024
Follow-up report on pulmonary mucosa-associated lymphoma in a patient with von Hippel-Lindau disease.
Olarewaju BA et al.
Journal of Surgical Case Reports, 2024
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Acute Lymphoblastic Leukemia with Myeloid Mutations Is a High-Risk Disease Associated with Clonal Hematopoiesis.
Saygin C et al.
Blood Cancer Discovery, 2024
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Mougel G et al.
Journal of Medical Genetics, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Rana HQ et al.
Cancers, 2024
Hereditary Renal Cancer Syndromes.
Yanus GA et al.
Medical Sciences (basel, Switzerland), 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
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
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.
Bilyalov A et al.
Cancers, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Delamare M et al.
Haematologica, 2023
Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.
Zhunussova G et al.
Oncotarget, 2023
Increased transferrin protects from thrombosis in Chuvash erythrocytosis.
Shah BN et al.
American Journal of Hematology, 2023
Efficacy of National Comprehensive Cancer Network Guidelines in Identifying Pathogenic Germline Variants Among Unselected Patients with Prostate Cancer: The PROCLAIM Trial.
Shore N et al.
European Urology Oncology, 2023
Gene expression changes in sickle cell reticulocytes and their clinical associations.
Zhang X et al.
Scientific Reports, 2023
Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.
Sochorcova L et al.
British Journal of Haematology, 2023
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.
Lee K et al.
Scientific Reports, 2023
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Nigro E et al.
Genes, 2023
JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.
Gangat N et al.
American Journal of Hematology, 2023
A Screening Approach for Inherited Erythrocytosis due to the VHL:c.598C > T Mutation (Chuvash Polycythemia).
Duggal N et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2023
Clear cell mesotheliomas with inactivating VHL mutations and near-haploid genomic features.
Michal M et al.
Genes, Chromosomes & Cancer, 2023
Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.
Onishi S et al.
Bmc Medical Genomics, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023