Results 21 to 30 of about 24,619,681 (234)

Neurofibromatosis type 2 and central neurofibromatosis [PDF]

Neurosurgical Focus, 1998
Neurofibromatosis type 2 (NF2) is a rare disease, affecting only approximately 1000 patients in the entire United States. The diagnosis requires the presence of bilateral acoustic neuromas, but many other tumors of the nervous system are also present. It is a very different disease from von Recklinghausen's neurofibromatosis, NF1.
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NF2 (neurofibromatosis type 2) [PDF]

, 1998
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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Focal amyotrophy in neurofibromatosis 2 [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2000
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by bilateral vestibular schwannomas and other CNS tumours including meningiomas and spinal schwannomas. Occasionally, peripheral neuropathy occurs in these patients but this is the first report of focal amyotrophy.
R, Trivedi, J, Byrne, S M, Huson, M, Donaghy   +3 more
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Neurofibromatosis [PDF]

, 2020
Neurofibromatosis, one of the most common genetic disorders, is a group of three conditions—Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis—that share some clinical features, such as the presence of cranial and spinal nerve sheet tumors ...

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NEUROFIBROMATOSIS TYPE 2

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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Neurofibromatosis 1 and 2

Brain Pathology, 1997
Neurofibromatosis (NF) 1 and 2 are multisystem disorders associated with a variety of neoplastic and non‐neoplastic manifestations that typically progress in severity during the lifetime of the affected patient. The importance of appropriately diagnosing these disorders stems from the fact that the natural history of an associated neoplasm, such as a ...
I F, Pollack, J J, Mulvihill
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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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Multiple odontogenic cysts in a patient with Neurofibromatosis–Noonan syndrome [PDF]

, 2016
Neurofibromatosis–Noonan syndrome (NFNS) is an uncommon chromosomal disorder showing features of both neurofibromatosis (NF-1) and Noonan syndrome (NS). We encountered a case of NFNS with keratocystic odontogenic tumor and dentigerous cysts.
Tohru Ikeda, Asahina, Izumi, Izumi Asahina, Yamashita, Hiromi, Fujita, Shuichi, Ikeda, Tohru, Shuichi Fujita, Hiromi Yamashita   +7 more
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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, Luca Lucchino, Ludovico Alisi, Antonio Valerio Chicca, Valerio Di Martino, Emanuele Miraglia, Ludovico Iannetti, Anna Maria Comberiati, Sandra Giustini, Alessandro Lambiase, Antonietta Moramarco   +10 more
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Legius syndrome in fourteen families [PDF]

, 2010
Legius syndrome presents as an autosomal dominant condition characterized by café-au-lait macules with or without freckling and sometimes a Noonan-like appearance and/or learning difficulties.
Denayer, E, Oostenbrink, R., Legius, E, Eric Legius, Van Minkelen, R, Lakeman, P, Rick Van Minkelen, Beert, E, Van Spaendonck-Zwarts, KY, Goede-Bolder, A. de, Peltonen, S., Van den Ouweland, AM, Spaendonck-Zwarts, KY, Brice, Glen, Ellen Denayer, Van den Ouweland, Ans Mw, Chmara, Magdalena, Bolder, A, Peltonen, Sirkku, Mori, T., Rankin, J., van den Ouweland, Ans, Peltonen, S, Brice, G., Brice, G, Brems, H, Ouweland, A.M.W. van den, Van den Ouweland, Ans M. W., Rankin, Julia, Bever, Yolande, Brems, Hilde, Spaendonck-Zwarts, K.Y. van, Julia Rankin, Kievit, Anneke Maat, Oostenbrink, Rianne, Eline Beert, Karin Y Van Spaendonck-Zwarts, van Bever, Yolande, Keymolen, K., Anneke Maat Kievit, Kievit, A.M., Mangold, Elisabeth, Yolande van Bever, Lakeman, Phillis, Mori, T, Arja de Goede-Bolder, Ans MW Van den Ouweland, Ende, J. van der, Phillis Lakeman, Beert, E., Legius, E., Sirkku Peltonen, Keymolen, Kathelijn, Magdalena Chmara, van Bever, Y., van der Ende, J., Ishizaki, Takuma, Mangold, E, Yoshimura, Akihiko, Van Minkelen, Rick, Beert, Eline, Keymolen, K, Legius, Eric, van Minkelen, R., Ishizaki, T., Kievit, AM, Glen Brice, Rianne Oostenbrink, van Spaendonck-Zwarts, K.Y., de Goede-Bolder, A, Denayer, Ellen, Akihiko Yoshimura, Chmara, M., Yoshimura, A, Jenneke Van den Ende, van den Ouweland, A.M.W., Denayer, E., Van Spaendonck-Zwarts, Karin Y., Van den Ende, Jenneke, Lakeman, P., Mangold, E., de Goede-Bolder, A., van Bever, Y, Van den Ende, J, Yoshimura, A., de Goede-Bolder, Arja, Elisabeth Mangold, Takuma Ishizaki, Maat-Kievit, Anneke, Bever, Y. van, Oostenbrink, R, Hilde Brems, Maat Kievit, A, Mori, Tomoaki, Tomoaki Mori, Chmara, M, Kathelijn Keymolen, Minkelen, R. van, Rankin, J, Ishizaki, T, De Goede, Arja, Van Spaendonck, Karin Y., Van Minckelen, Rick, et al., Van Den Ouweland, Ans M.W.   +104 more
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