نتایج جستجو برای: neurofibromatosis nf2
تعداد نتایج: 7346 فیلتر نتایج به سال:
Neurofibromatosis (NF) is the umbrella term for neurofibromatosis type 1 (NF1), 2 (NF2) and schwannomatosis (SWN). EU-PEARL aims to create a framework platform trials in NF. The aim of this systematic review an overview recent clinical drug NF, identify learning points guide development framework. We searched Embase, Medline Cochrane register on October 1, 2020 publications NF patients. exclude...
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by bilateral vestibular schwannomas and other CNS tumours including meningiomas and spinal schwannomas. Occasionally, peripheral neuropathy occurs in these patients but this is the first report of focal amyotrophy. Clinical, electrophysiological, and imaging data from four NF2 patients seen at a specialist neurofibro...
BACKGROUND Neurofibromatosis type 2 (NF2) is a highly penetrant autosomal dominant condition predisposing affected individuals to schwannomas and meningiomas. The proportion of children presenting with meningioma or schwannoma who have NF2 is not well described, and neither is the mode of presentation in most children with the inherited disease. AIMS To determine the frequency of childhood me...
Patients with Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are predisposed to tumors of the nervous system. NF1 patients predominantly develop neurofibromas, and Malignant Peripheral Nerve Sheath Tumors (MPNST) while NF2 patients develop schwannomas and meningiomas. Here we quantified the drug sensitivities of NF1 and NF2 tumor cell lines in a high throughput platform. The ...
Received 5 August 1996 and in revised form 2 December 1996 Accepted 10 December 1996 Abstract Objective-To delineate the clinical phenotype, molecular basis, and implications for screening in patients and families with multiple schwannomas not generally involving the cranium. Methods-As part of a United Kingdom clinical and genetic study of type 2 neurofibromatosis (NF2) patients and families w...
Previously, we have cloned a candidate for the 595-amino acid neurofibromatosis type 2 tumor suppressor called NF2 or Merlin, with striking sequence similarity in its N-terminal half to an F-actin-binding protein family called TERM, which includes talin, ezrin, radixin, and moesin (Trofatter, J. A., MacCollin, M. M., Rutter, J. L., Murrell, J. R., Duyao, M. P., Parry, D. M., Eldridge, R., Kley,...
Neurofibromatosis type 2 (NF2) is a genetically determined tumor-predisposing syndrome. Ocular manifestations include cataracts, epiretinal membranes, retinal hamartomas, optic disk gliomas, and nerve sheath meningiomas. Moreover, edema, optical atrophy, motility disorders, pupil lid dysfunction, neurotrophic keratitis can be observed as indirect signs. An observational study was conducted with...
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