Variant Spectrum of von Hippel-Lindau (VHL) disease and its genomic heterogeneity in Japan.
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DOI: 10.1093/hmg/ddad039
Abstract: Abstract Von Hippel–Lindau (VHL) disease is an autosomal dominant, inherited syndrome with variants in the VHL gene, causing predisposition to multi-organ neoplasms with vessel abnormality. Germline variants in VHL can be detected in 80–90% of… read more here.
Keywords: von hippel; lindau vhl; disease; hippel lindau ... See more keywords
Hepatobiliary and Pancreatic: Pancreatic mixed serous neuroendocrine neoplasm in von Hippel–Lindau disease
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Gastroenterology and Hepatology"
DOI: 10.1111/jgh.14274
Abstract: A 32-year-old woman was admitted because she was incidentally found to have pancreatic tumors during medical evaluation. She had no complaints. Her abdomen was soft, non-tender, and no palpable masses were detected. Carcinoembryonic antigen, carbohydrate… read more here.
Keywords: mixed serous; head pancreas; disease; von hippel ... See more keywords
Risk factors for survival in patients with von Hippel-Lindau disease
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DOI: 10.1136/jmedgenet-2017-104995
Abstract: Background Historically, von Hippel-Lindau (VHL) disease is characterised by a poor survival. Although genotype–phenotype correlation has been described in many studies, the risk factors for VHL survival remain unclear. This study aims to evaluate the… read more here.
Keywords: hippel lindau; von hippel; survival patients; vhl disease ... See more keywords
Novel genetic characterisation and phenotype correlation in von Hippel-Lindau (VHL) disease based on the Elongin C binding site: a large retrospective study
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DOI: 10.1136/jmedgenet-2019-106336
Abstract: Background Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic tumour syndrome resulting from mutations in the VHL gene lineage, and its prognosis is generally poor. This study aimed to provide a more valuable genotype–phenotype… read more here.
Keywords: vhl disease; binding site; group; elongin binding ... See more keywords
Extraneuraxial Hemangioblastoma: An Unusual Soft Tissue Neoplasm that Mimics More Common Entities but Carries Distinct Clinical Implications
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DOI: 10.1177/10668969221102560
Abstract: Hemangioblastoma, one of the characteristic tumors associated with Von Hippel-Lindau (VHL) disease, most often presents in the central nervous system (CNS) but can uncommonly arise in extraneuraxial, or previously referred to as peripheral, locations. Without… read more here.
Keywords: clinical implications; soft tissue; vhl disease; extraneuraxial hemangioblastoma ... See more keywords
Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel-Lindau gene: a case report and review of the literature.
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DOI: 10.1507/endocrj.ej21-0611
Abstract: Von Hippel-Lindau (VHL) disease is an autosomal dominant disease related to germline mutations in VHL. In VHL disease, pheochromocytoma develops in 10%-20% of patients because of germline mutations and loss of heterozygosity of VHL. However,… read more here.
Keywords: loss heterozygosity; retroperitoneal paraganglioma; loss; paraganglioma ... See more keywords
Novel genotype–phenotype correlations in five Chinese families with Von Hippel–Lindau disease
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DOI: 10.1530/ec-18-0167
Abstract: Context Von Hippel–Lindau (VHL) disease manifests as a variety of benign and malignant neoplasms. Previous studies of VHL disease have documented several genotype–phenotype correlations; however, many such correlations are still unknown. Increased identification of new… read more here.
Keywords: vhl; genotype phenotype; phenotype correlations; disease ... See more keywords
Von Hippel-Lindau Disease Presenting With Cranial and Spinal Hemangioblastomas: MRI Findings
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DOI: 10.18502/acta.v61i2.12557
Abstract: Hemangioblastoma (HB) is one of the most common primary neoplasms of the posterior fossa in adults. Although single tumors can be sporadic, multiple tumors are almost always associated with von Hippel-Lindau (VHL) disease. In our… read more here.
Keywords: von hippel; disease; hippel lindau; mri ... See more keywords
Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients
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DOI: 10.3341/kjo.2022.0079
Abstract: Purpose We investigated the clinical features of Korean patients with retinal capillary hemangioblastoma (RCH) and genetic variants of the von Hippel-Lindau (VHL) gene. Methods A retrospective analysis was performed on patients with RCH from 2003… read more here.
Keywords: rch; retinal capillary; capillary hemangioblastoma; vhl disease ... See more keywords