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von Hippel-Lindau disease: a clinical and scientific review

von Hippel-Lindau disease: a clinical and scientific review

http://www.wikidata.org/entity/Q24622030

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Personalized Medicine for Nervous System Manifestations of von Hippel-Lindau Disease Neuroimaging in pediatric phakomatoses. An educational review.Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management New and emerging factors in tumorigenesis: an overview The role of the cilium in normal and abnormal cell cycles: emphasis on renal cystic pathologies A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)[Tumors of the posterior cranial fossa].Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease Primary Renal Carcinoid with Bilateral Multiple Clear Cell Papillary Renal Cell Carcinomas.VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype Transient ischaemic attack secondary to paraneoplastic erythrocytosis.VHL, the story of a tumour suppressor gene.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 Pheochromocytoma associated with von Hippel-lindau disease in a Pakistani family Association of the von Hippel-Lindau protein with AUF1 and posttranscriptional regulation of VEGFA mRNA.Recent developments in brain tumor predisposing syndromes.Complex cellular functions of the von Hippel-Lindau tumor suppressor gene: insights from model organisms.From arterial hypertension complications to von Hippel-Lindau syndrome diagnosis.Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma Propranolol reduces viability and induces apoptosis in hemangioblastoma cells from von Hippel-Lindau patients Vitrectomy for Tractional Retinal Detachment with Twin Retinal Capillary Hemangiomas in a Patient with Von Hippel-Lindau Disease: A Case Report.From headache to kidney tumor; an example of von Hippel- Lindau disease.Inactivation of the tumor suppressor gene von Hippel-Lindau (VHL) in granulocytes contributes to development of liver hemangiomas in a mouse model.Getting personal: Head and neck cancer management in the era of genomic medicine.Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.Recurrent lobular capillary hemangiomas in a patient with neurofibromatosis type 1 (NF1) and von Hippel-Lindau syndrome (VHL).Molecular and therapeutic advances in the diagnosis and management of malignant pheochromocytomas and paragangliomas The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).A differential diagnosis of inherited endocrine tumors and their tumor counterparts CRISPR-Mediated VHL Knockout Generates an Improved Model for Metastatic Renal Cell Carcinoma.Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma.Contribution of endosonography in an uncommon case of pancreatic cysts.Endothelial follicle stimulating hormone receptor in primary kidney cancer correlates with subsequent response to sunitinib.Pancreatic neuroendocrine tumors: biology, diagnosis,and treatment Von Hippel-Lindau syndrome: demonstration of entire disease spectrum with (68)Ga-DOTANOC PET-CT.Familial pheochromocytomas and paragangliomas.Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.

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von Hippel-Lindau disease: a clinical and scientific review

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2011年の論文

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von Hippel-Lindau disease: a clinical and scientific review

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von Hippel-Lindau disease: a clinical and scientific review

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von Hippel-Lindau disease: a clinical and scientific review

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von Hippel-Lindau disease: a clinical and scientific review

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von Hippel-Lindau disease: a clinical and scientific review

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von Hippel-Lindau disease: a clinical and scientific review

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European Journal of Human Genetics

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von Hippel-Lindau disease: a clinical and scientific review

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Hartmut Ph Neumann

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P2860

Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function

The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing

Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation

von Hippel-Lindau disease

Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer

Rbx1, a component of the VHL tumor suppressor complex and SCF ubiquitin ligase

von Hippel-Lindau disease-associated hemangioblastomas are derived from embryologic multipotent cells

Identification of the von Hippel-Lindau disease tumor suppressor gene

Genotype-phenotype correlations in von Hippel-Lindau disease.

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