Von Hippel-Lindau disease: a single gene, several hereditary tumors.

scientific article published on 6 June 2017

Von Hippel-Lindau disease: a single gene, several hereditary tumors. is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1007/S40618-017-0683-1
P698PubMed publication ID28589383

P50authorSofia PereiraQ39438351
Jéferson CrespígioQ81487419
P2093author name stringD Pignatelli
M A Dias
T L Mazzuco
L C L Berbel
R F Berbel
P2860cites workThe tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysisQ22009936
von Hippel-Lindau disease: a clinical and scientific reviewQ24622030
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Biological and clinical impact of hemangioblastoma-associated peritumoral cysts in von Hippel-Lindau diseaseQ30278444
Prospective natural history study of central nervous system hemangioblastomas in von Hippel-Lindau diseaseQ30360730
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Ophthalmological manifestations in VHL and NF 1: pathological and diagnostic implicationsQ33214879
Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau diseaseQ33523199
VHL-gene deletion in single renal tubular epithelial cells and renal tubular cysts: further evidence for a cyst-dependent progression pathway of clear cell renal carcinoma in von Hippel-Lindau diseaseQ33568494
Central nervous system lesions in von Hippel-Lindau syndromeQ33591720
Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markersQ33594795
Long-term use of intravitreal bevacizumab (avastin) for the treatment of von hippel-lindau associated retinal hemangioblastomasQ33811756
Von Hippel-Lindau syndrome. A pleomorphic conditionQ33813972
Phase III trial of bevacizumab plus interferon alfa-2a in patients with metastatic renal cell carcinoma (AVOREN): final analysis of overall survivalQ34021957
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Prospective evaluation of radiosurgery for hemangioblastomas in von Hippel-Lindau diseaseQ34132624
The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease.Q34530776
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Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: a role for laparoscopic and cortical-sparing surgeryQ34671110
von Hippel-Lindau disease: genetic, clinical, and imaging featuresQ34723401
Von Hippel-Lindau disease in a Newfoundland kindredQ34726572
Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau diseaseQ34726998
Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau diseaseQ34740142
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Multiple neuroendocrine tumors of the pancreas in von Hippel-Lindau disease patients: histopathological and molecular genetic analysisQ35753186
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CLINICALLY INVISIBLE RETINAL HEMANGIOBLASTOMAS DETECTED BY SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY AND FLUORESCEIN ANGIOGRAPHY IN TWINS.Q36106014
Pheochromocytoma Screening Initiation and Frequency in von Hippel-Lindau SyndromeQ36339936
Immunohistochemical markers of the hypoxic response can identify malignancy in phaeochromocytomas and paragangliomas and optimize the detection of tumours with VHL germline mutationsQ36594111
Pancreatic neuroendocrine tumors: approach to treatment with focus on sunitinibQ37130616
Pazopanib therapy for cerebellar hemangioblastomas in von Hippel-Lindau disease: case report.Q37275838
VHL DiseaseQ37787564
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Pancreatic lesions in von Hippel-Lindau disease? A systematic review and meta-synthesis of the literature.Q37988747
Everolimus and mTOR inhibition in pancreatic neuroendocrine tumorsQ38035844
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Endocrine manifestations of von Hippel-Lindau disease.Q38328199
Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndromeQ38366027
Evaluation and management of pancreatic lesions in patients with von Hippel-Lindau diseaseQ38794106
Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.Q38817715
VHL loss causes spindle misorientation and chromosome instability.Q39822734
Von Hippel-Lindau disease: new strategies in early detection and treatmentQ40688491
The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patientsQ42037233
Simple renal cysts, atypical renal cysts, and renal cell carcinoma in von Hippel-Lindau disease: a lectin and immunohistochemical study in six patientsQ43485682
Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome.Q43503400
Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypesQ43601804
Retinal capillary hemangioma: a comparison of sporadic cases and cases associated with von Hippel-Lindau diseaseQ43753433
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotypeQ44847029
Inhibin-expressing clear cell neuroendocrine tumor of the ampulla: an unusual presentation of von Hippel-Lindau disease.Q45937365
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guidelineQ46897538
Outcome of twin babies free of Von Hippel-Lindau disease after a double-factor preimplantation genetic diagnosis: monogenetic mutation analysis and comprehensive aneuploidy screening.Q48729486
Mechanisms of morbid hearing loss associated with tumors of the endolymphatic sac in von Hippel-Lindau diseaseQ50456835
Cochlear implantation for hearing loss associated with bilateral endolymphatic sac tumors in von Hippel-Lindau diseaseQ50457787
Tumors of the endolymphatic sac in patients with von Hippel-Lindau disease: implications for their natural history, diagnosis, and treatment.Q50473982
Renal involvement in von Hippel-Lindau disease.Q50999477
Von Hippel-Lindau disease.Q51971299
Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma.Q52957775
Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.Q53407685
Circumstances of discovery of phaeochromocytoma: a retrospective study of 41 consecutive patients.Q53623621
Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine tumors (PNETs)Q58417136
Radiosurgery for hemangioblastoma: Results of a multiinstitutional experienceQ61832859
Pancreatic involvement in von Hippel–Lindau diseaseQ62929393
Papillary cystadenoma of the mesosalpinx in von Hippel-Lindau diseaseQ68264421
Renal cell carcinoma in von Hippel-Lindau syndromeQ69741072
Renal cysts, renal cancer and von Hippel-Lindau diseaseQ71974434
Treatment of renal cell carcinoma in von Hippel-Lindau disease: a multicenter studyQ72241820
The clinical and pathological manifestations of renal tumors in von Hippel-Lindau diseaseQ72820743
von Hippel-Lindau diseaseQ73567751
Pheochromocytoma in von hippel-lindau disease: distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2Q74454015
pVHL: a multipurpose adaptor proteinQ81470388
Endolymphatic sac tumor and von Hippel-Lindau disease in a single familyQ82485118
Von hippel-lindau diseaseQ83178852
P433issue1
P921main subjectvon Hippel-Lindau diseaseQ741315
P304page(s)21-31
P577publication date2017-06-06
P1433published inJournal of Endocrinological InvestigationQ15766847
P1476titleVon Hippel-Lindau disease: a single gene, several hereditary tumors
P478volume41

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cites work (P2860)
Q96953732Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis
Q60931664Clinical Syndromes and Genetic Screening Strategies of Pheochromocytoma and Paraganglioma
Q64083362Distinctive clinicopathological features of Von Hippel-Lindau-associated hereditary renal cell carcinoma: A single-institution study
Q92156808Fibronectin in Cancer: Friend or Foe
Q64081971Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors
Q92618041Hypoxia, cytokines and stromal recruitment: parallels between pathophysiology of encapsulating peritoneal sclerosis, endometriosis and peritoneal metastasis
Q92738656Is polycystic kidney disease associated with malignancy in children?
Q64076854Molecular Profiling of Druggable Targets in Clear Cell Renal Cell Carcinoma Through Targeted RNA Sequencing
Q57822415Oncometabolite induced primary cilia loss in pheochromocytoma
Q92432731PHEOCHROMOCYTOMA-PARAGANGLIOMA: TRANSLATIONAL APPROACH FROM GENETICS TO CLINICAL NEUROENDOCRINOLOGY
Q47097655Proteome profiling of clear cell renal cell carcinoma in von Hippel-Lindau patients highlights upregulation of Xaa-Pro aminopeptidase-1, an anti-proliferative and anti-migratory exoprotease.
Q46272231The E3 ubiquitin ligase Siah1 regulates adrenal gland organization and aldosterone secretion.
Q47577096Von Hippel-Lindau Disease With Multi-Organ Involvement: A Case Report and 8-Year Clinical Course With Follow-Up

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