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37. Muscarella LA, Barbano R, Augello B, Formica V, Micale L, Zelante L, D'Agruma L, Merla G: An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma. J Hum Genet; 2007;52(6):485-91
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma.
  • Central nervous system hemangioblastomas are benign vascular tumours that may present sporadically or as manifestation of the von Hippel-Lindau (VHL) disease.
  • [MeSH-major] Adenoma, Oxyphilic / genetics. Cerebellar Neoplasms / genetics. Hemangioblastoma / genetics. Kidney Neoplasms / genetics. Promoter Regions, Genetic. Von Hippel-Lindau Tumor Suppressor Protein / genetics. von Hippel-Lindau Disease / genetics
  • [MeSH-minor] Adult. Allelic Imbalance. Base Sequence. Electrophoretic Mobility Shift Assay. Humans. Male. Molecular Sequence Data. Mutation. Polymerase Chain Reaction


38. Pascual-Castroviejo I, Pascual-Pascual SI, ViaƱo J, Carceller F, Gutierrez-Molina M, Morales C, Frutos-Martinez R: Posterior fossa tumors in children with neurofibromatosis type 1 (NF1). Childs Nerv Syst; 2010 Nov;26(11):1599-603
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Posterior fossa tumors in children with neurofibromatosis type 1 (NF1).
  • Four of them had astrocytomas but only in one case was the tumour primarily cerebellar while the tumour was primarily of the brain stem with invasion of the adjacent regions of one or both cerebellar hemispheres in three patients.
  • The patient with primary cerebellar astrocytoma is apparently cured 7 years after the removal of the tumour.
  • The patients with the brain stem tumours extending to the cerebellum, showed a chronic slowly progressive cerebellar disease, but remain alive at age of more than 20 years (one was lost to follow-up).
  • Most of these tumours are histologically benign (low grade astrocytomas).
  • [MeSH-major] Cranial Fossa, Posterior. Neurofibromatosis 1 / surgery. Skull Base Neoplasms / surgery
  • [MeSH-minor] Adolescent. Adult. Astrocytoma / diagnosis. Astrocytoma / mortality. Astrocytoma / pathology. Astrocytoma / surgery. Brain Stem Neoplasms / diagnosis. Brain Stem Neoplasms / mortality. Brain Stem Neoplasms / pathology. Brain Stem Neoplasms / surgery. Cerebellar Neoplasms / diagnosis. Cerebellar Neoplasms / mortality. Cerebellar Neoplasms / pathology. Cerebellar Neoplasms / surgery. Child. Child, Preschool. Female. Follow-Up Studies. Humans. Infant. Magnetic Resonance Imaging. Magnetic Resonance Spectroscopy. Male. Medulloblastoma / diagnosis. Medulloblastoma / mortality. Medulloblastoma / pathology. Medulloblastoma / surgery. Retrospective Studies. Survival Rate. Tomography, X-Ray Computed. Young Adult

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • Genetic Alliance. consumer health - Neurofibromatosis type 1.
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  • [CommentIn] Childs Nerv Syst. 2010 Nov;26(11):1491; author reply 1493 [20853110.001]
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  • (PMID = 20464401.001).
  • [ISSN] 1433-0350
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
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