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Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder (incidence 1:33 000-40 000) characterized by formation of central nervous system tumors, due to mutation in the NF2 gene on chromosome 22q12. Vestibular schwannomas are the hallmark lesion, affecting 95% of individuals and typically occur bilaterally.
Simone Ardern-Holmes +2 more
+6 more sources
Neurofibromatosis type 2 [PDF]
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
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The Molecular Pathogenesis, Diagnostic Criteria, Symptoms, Clinical Manifestations, and Gene-Based Therapeutic Approaches in Neurofibromatosis [PDF]
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
Pulmonary hypertension associated with neurofibromatosis type 2
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
Imatinib in neurofibromatosis type 2 [PDF]
SummaryA 30-year-old man with a 10-year history of neurofibromatosis type 2 (NF-2) and minimal hearing in his left ear, presented with rapidly progressive disease and risk of total hearing loss. He was started on imatinib and achieved stable disease for 4 months, after which the drug was ceased due to toxicity.
Stephanie, Lim, Paul, de Souza
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Management of Neurofibromatosis Type 2 [PDF]
Neurofibromatosis type 2 (NF2), an as-yet incurable disease that predisposes patients to multiple intracranial and spinal tumors, requires a team approach to treatment, because of its multisystem nature. Included on the team should be neuro-otologists, neurosurgeons, ophthalmologists, geneticists, audiologists, speech therapists and other ...
M, Bance, R T, Ramsden
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Neurofibromatosis type 2 (NF2) [PDF]
Review on Neurofibromatosis type 2 (NF2), with data on clinics, and the genes ...
Gusella, JF
core +1 more source
Neurofibromatosis type 2: A case study
No abstract available.
H. G. Kritzinger
doaj +1 more source
Multifocality in neurofibromatosis type 2 [PDF]
In their article in the current edition of the journal Asthagiri and colleagues1 elegantly demonstrate that the lobulated appearance of vestibular schwannomas in NF2 is due to the multifocal origin of separate clonal tumors that have distinct second somatic ‘hits’ in the NF2 gene. In 1971 Knudson2 published the “two hit” hypothesis of tumorigenesis for
Evans, D Gareth R; id_orcid 0000-0002-8482-5784 +1 more
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NF2 (neurofibromatosis type 2) [PDF]
Review on NF2 (neurofibromatosis type 2), with data on DNA, on the protein encoded, and where the gene is ...
Huret, JL, JL Huret
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