Results 11 to 20 of about 25,453,690 (257)
Molecular Insights into Neurofibromatosis 2
Neurobiology of Disease, 1997 David H. Gutmann
doaj +3 more sources
Neurofibromatosis type 2 [PDF]
Neurology, 2007 A 45-year-old woman developed a gradual onset of sensorineural hearing loss in the left ear in 1984. Head CT scan with contrast demonstrated bilateral cerebellopontine angle (CPA) enhancing masses. She underwent a resection of the left CPA tumor with pathology confirming schwannoma. …
S, Sathornsumetee +4 more
openaire +2 more sources
Neurofibromatosis type 2 [PDF]
The Lancet, 2009 Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q. It has a frequency of one in 25,000 livebirths and nearly 100% penetrance by 60 years of age.
Ashok R, Asthagiri +6 more
openaire +2 more sources
Neurofibromatosis type 2 [PDF]
Journal of Medical Genetics, 2000 Neurofibromatosis type 2 is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis type 1. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, affecting particularly the superior vestibular branch of the 8th cranial nerve, usually ...
D G, Evans, M, Sainio, M E, Baser
openaire +2 more sources
The Molecular Pathogenesis, Diagnostic Criteria, Symptoms, Clinical Manifestations, and Gene-Based Therapeutic Approaches in Neurofibromatosis [PDF]
مجله دانشگاه علوم پزشکی گرگان, 2023 Neurofibromatosis (NF) is a heterogeneous group of tumor predisposition syndromes that lead to malignancy in the central and peripheral nervous systems.
Fatemeh Shahraki, Morteza Oladnabi
doaj
Neurofibromatosis type 2 and central neurofibromatosis [PDF]
Neurosurgical Focus, 1998 Neurofibromatosis type 2 (NF2) is a rare disease, affecting only approximately 1000 patients in the entire United States. The diagnosis requires the presence of bilateral acoustic neuromas, but many other tumors of the nervous system are also present. It is a very different disease from von Recklinghausen's neurofibromatosis, NF1.
openaire +2 more sources
Focal amyotrophy in neurofibromatosis 2 [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 2000 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.
R, Trivedi +3 more
openaire +2 more sources
International Journal of Clinical Practice, 2003 SUMMARYNeurofibromatosis type 2 (NF2) is often not recognised as a distinct entity from peripheral neurofibromatosis. NF2 is a predominantly intracranial condition whose hallmark is bilateral vestibular schwannomas. NF2 results from a mutation in the gene named merlin, located on chromosome 22.
S, Uppal, A P, Coatesworth
openaire +2 more sources
International Archives of Otorhinolaryngology, 2013 Summary Introduction: Few cases of cochlear implantation (CI) in neurofibromatosis type 2 (NF2) patients had been reported in the literature. The approaches described were translabyrinthine, retrosigmoid or middle cranial fossa.
Ricardo Ferreira Bento +4 more
doaj +1 more source
Brain Pathology, 1997 Neurofibromatosis (NF) 1 and 2 are multisystem disorders associated with a variety of neoplastic and non‐neoplastic manifestations that typically progress in severity during the lifetime of the affected patient. The importance of appropriately diagnosing these disorders stems from the fact that the natural history of an associated neoplasm, such as a ...
I F, Pollack, J J, Mulvihill
openaire +3 more sources