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Acta Otorrinolaringológica Española, 2010
Type 2 neurofibromatosis (NF2) is an invalidating, inherited, dominant, autosomal disease. It is commonly confused with type 1 neurofibromatosis, although the two disorders are different. All subjects who inherit a mutated NF2 gene will develop the disease, which is characterised by the growth of schwannomas, generally affecting the vestibular nerve ...
Marta, Pérez-Grau +5 more
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Type 2 neurofibromatosis (NF2) is an invalidating, inherited, dominant, autosomal disease. It is commonly confused with type 1 neurofibromatosis, although the two disorders are different. All subjects who inherit a mutated NF2 gene will develop the disease, which is characterised by the growth of schwannomas, generally affecting the vestibular nerve ...
Marta, Pérez-Grau +5 more
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2011
Neurofibromatosis type 2 (NF2) is an autosomal-dominant inherited tumour predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. Affected individuals develop schwannomas characteristically affecting both vestibular nerves leading to hearing loss and eventual deafness.
Evans, GR; id_orcid 0000-0002-8482-5784 +2 more
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Neurofibromatosis type 2 (NF2) is an autosomal-dominant inherited tumour predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. Affected individuals develop schwannomas characteristically affecting both vestibular nerves leading to hearing loss and eventual deafness.
Evans, GR; id_orcid 0000-0002-8482-5784 +2 more
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Surgery for neurofibromatosis 2
Current Opinion in Otolaryngology & Head and Neck Surgery, 2012This study reviews the latest literature relating to the surgical treatment of otologic manifestations in patients with neurofibromatosis 2 (NF2). The emphasis is on vestibular and other schwannomas. We review surgical approaches, including hearing preservation and nonhearing preservation surgery, as well as outcomes, including hearing and facial nerve
Jacek, Szudek +2 more
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Otolaryngologic Clinics of North America, 2015
Neurofibromatosis type 2 (NF2) is a rare syndrome characterized by bilateral vestibular schwannomas, multiple meningiomas, cranial nerve tumors, spinal tumors, and eye abnormalities. NF2 presents unique challenges to the otologist because hearing loss may be the presenting complaint leading to the diagnosis of the disorder.
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Neurofibromatosis type 2 (NF2) is a rare syndrome characterized by bilateral vestibular schwannomas, multiple meningiomas, cranial nerve tumors, spinal tumors, and eye abnormalities. NF2 presents unique challenges to the otologist because hearing loss may be the presenting complaint leading to the diagnosis of the disorder.
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2004
Type 2 neurofibromatosis (NF2) is an autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene NF2 on chromosome 22. Around 1 in 33000 people are born with an NF2 mutation although more than one-third of the 60% of de novo cases are not conceived with the mutation but this develops later in embryogenesis (mosaics).
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Type 2 neurofibromatosis (NF2) is an autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene NF2 on chromosome 22. Around 1 in 33000 people are born with an NF2 mutation although more than one-third of the 60% of de novo cases are not conceived with the mutation but this develops later in embryogenesis (mosaics).
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Pseudopapilledema in neurofibromatosis type 2
American Journal of Ophthalmology, 2000To report a case of neurofibromatosis type 2 with pseudopapilledema secondary to a prepapillary gliotic membrane.Case report. Results of an ocular examination and fluorescein angiography of a patient are described.Fundus examination of a 14-year-old male with neurofibromatosis type 2 revealed an irregular elevation of the optic nerve and a perifoveal ...
G T, Lueder, J T, Doll
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Retinal Hamartoma in Neurofibromatosis 2
Archives of Ophthalmology, 1990In 1973 Gass1recorded the occurrence of combined pigment epithelial and retinal hamartoma (CPERH) in a patient with cutaneous signs suggesting neurofibromatosis (NF). It has now been proven that NF consists of at least two distinct diseases, each caused by a unique chromosomal defect: NF-1 (the von Recklinghausen type) and NF-2 (the bilateral acoustic ...
K, Landau +3 more
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[Neurofibromatosis 2 (bilateral acoustic neurofibromatosis)].
Schweizerische medizinische Wochenschrift, 1989We report a personal series of 28 patients with neurofibromatosis 2 (NF-2), emphasizing the differences from classical NF-1. The hallmark of NF-2 is bilateral acoustic neuromas with initial symptoms usually occurring in the second or third decade. The natural history may lead to bilateral deafness, but hearing loss may also be a complication of surgery.
C, Yalcinkaya +2 more
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Preservation of hearing in neurofibromatosis 2
Otolaryngology–Head and Neck Surgery, 1990Preservation of hearing in the neurofibromatosis 2 (central neurofibromatosis) patient has been Infrequently documented. This goal can be attained in selected patients and should be more frequently accomplished in the future with improved diagnostic capabilities and improved surgical techniques.
R T, Miyamoto +3 more
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Neurofibromatosis 2 in the Pediatric Population
Journal of Child Neurology, 2003Neurofibromatosis 2 is a severe autosomal dominant disorder characterized by the occurrence of bilateral vestibular schwannomas and other benign tumors of the nervous system. Excellent natural history studies exist for adults with neurofibromatosis 2, but limited outcome data are available for children with neurofibromatosis 2.
Fabio, Nunes, Mia, MacCollin
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