Results 11 to 20 of about 36,792 (224)
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
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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
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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Neurofibromatose 2: opções de restauração auditiva Neurofibromatosis 2: hearing restoration options
Brazilian Journal of Otorhinolaryngology, 2012 Neurofibromatose 2 (NF2) é uma doença autossômica dominante que, invariavelmente, cursa com surdez. Restauração auditiva pode ser realizada por meio do implante coclear (IC) ou implante auditivo de tronco encefálico (ABI).
Tatiana Alves Monteiro +5 more
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Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II] [PDF]
Genetics in Medicine, 2009 Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. Affected individuals inevitably develop schwannomas typically affecting both vestibular nerves leading to deafness. Rehabilitation with brainstem implants is improving this outcome.
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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
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Outcomes following definitive treatment of malignant peripheral nerve sheath tumor are significantly worse for patients with neurofibromatosis type 1: A Canadian Sarcoma Research and Clinical Collaboration study. [PDF]
CancerAbstract Background Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas with a 5‐year survival rate of approximately 50%, secondary to their metastatic potential and resistance to therapy. MPNSTs can arise sporadically, as a late toxicity from therapeutic radiotherapy, or in patients with neurofibromatosis type 1 (NF1).
Aubrey RE +7 more
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Presymptomatic Diagnosis of Neurofibromatosis 2
Pediatric Neurology Briefs, 1996 The clinical spectrum of neurofibromatosis 2 (NF2) at the time of presymptomatic DNA diagnosis in at-risk first-degree relatives in five families were studied at the Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, and the ...
J Gordon Millichap
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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
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