Results 11 to 20 of about 47,993 (230)
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
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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
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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
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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
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
Neurofibromatosis Type 2 Involving the Brain and Spinal Cord
Вестник рентгенологии и радиологии, 2021 Neurofibromatosis type 2 is a rare genetic disease that occurs with a frequency of approximately 1 in 50,000 newborns and is characterized by benign tumors, mainly bilateral schwannomas of the VIII cranial nerve.
O. A. Staroseltseva +6 more
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NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]
, 2013 Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S +2 more
core +3 more sources
Neurofibromatosis type 2: A case study
South African Journal of Radiology, 2002 No abstract available.
H. G. Kritzinger
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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
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Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma [PDF]
, 2013 Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even ...
BOZZAO, ALESSANDRO +6 more
core +2 more sources