Results 11 to 20 of about 32,341 (221)
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
+6 more sources
Ophthalmic Manifestation in Neurofibromatosis Type 2
Applied Sciences, 2023 Neurofibromatosis type 2 (NF2) is a genetically determined tumor-predisposing syndrome. Ocular manifestations include cataracts, epiretinal membranes, retinal hamartomas, optic disk gliomas, and optic nerve sheath meningiomas. Moreover, optic disk edema,
Marta Armentano +10 more
doaj +1 more source
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 +4 more sources
Cystic meningioangiomatosis and cerebellar ependymoma in a child with neurofibromatosis type 2
Radiology Case Reports, 2022 We report a case of multifocal cystic meningioangiomatosis (MA), an exceptionally uncommon diagnosis even in patients with type 2 neurofibromatosis (NF2).
Austin Wheeler, MD +3 more
doaj +1 more source
Pulmonary hypertension associated with neurofibromatosis type 2
Pulmonary Circulation, 2021 Although precapillary pulmonary hypertension is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown.
Hirohisa Taniguchi +9 more
doaj +1 more source
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: A case study
South African Journal of Radiology, 2002 No abstract available.
H. G. Kritzinger
doaj +1 more source
Mechanisms of hearing loss in neurofibromatosis type 2. [PDF]
PLoS ONE, 2012 Patients with neurofibromatosis type 2 (NF2) develop bilateral cochleovestibular schwannomas (CVSs) that cause binaural deafness in most individuals. Hearing loss occurs in an unpredictable manner and the underlying mechanisms are not known.
Ashok R Asthagiri +9 more
doaj +1 more source