Results 151 to 160 of about 2,776 (190)

Molecular Analysis of the NF2 Tumor-Suppressor Gene in Schwannomatosis [PDF]

American Journal of Human Genetics, 1997
SummaryPatients with multiple schwannomas without vestibular schwannomas have been postulated to compose a distinct subclass of neurofibromatosis (NF), termed “schwannomatosis.” To compare the molecular-genetic basis of schwannomatosis with NF2, we ...
James F. Gusella, M Priscilla Short, M Maccollin   +2 more
exaly   +2 more sources

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas†

Human Mutation, 2008
Schwannomatosis is characterized by the onset of multiple intracranial, spinal, or peripheral schwannomas, without involvement of the vestibular nerve, which is instead pathognomonic of neurofibromatosis type 2 (NF2).
Aldesia Provenzano, Maurizio Genuardi, Roberta Sestini   +2 more
exaly   +2 more sources

SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis

Clinical Genetics, 2010
Schwannomatosis is characterized by the development of multiple schwannomas of the nervous system, but without the occurrence of vestibular schwannomas. Most cases of schwannomatosis are thought to be sporadic, representing the first case in a family due
Frank Baas, Mb Delatycki, M B Delatycki
exaly   +2 more sources

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Case of schwannomatosis

The Journal of Dermatology, 2009
AbstractA 40‐year‐old man presented to our hospital with painful tumors in his left carotid space and left knee. He had no family history of neurofibromatosis type II (NF II), no history of hearing loss or vestibular problems, and no symptoms of NF I.
Yukako, Murakami, Mari, Wataya-Kaneda, Mari, Tanaka, Akira, Myoui, Yoshiharu, Sakata, Ichiro, Katayama   +5 more
openaire   +2 more sources

Schwannomatosis

Neurology, 1996
Schwannomas are benign nerve sheath tumors that most commonly occur singularly in otherwise normal individuals. Multiple schwannomas in a single patient are most often seen in neurofibromatosis 2 (NF2), but several recent reports suggest that schwannomatosis may also be a distinct clinical entity.
M, MacCollin, W, Woodfin, D, Kronn, M P, Short   +3 more
openaire   +2 more sources

Schwannomatosis of the sciatic nerve

Skeletal Radiology, 2001
A 52-year-old woman with schwannomatosis in the left sciatic nerve is presented. The patient had no stigmata of neurofibromatosis (NF) type 1 or 2. Cutaneous or spinal schwannomas were not detected. Magnetic resonance (MR) imaging of the sciatic nerve revealed more than 15 tumors along the course of the nerve.
T, Yamamoto, S, Maruyama, K, Mizuno
openaire   +2 more sources

Intraosseous schwannoma in schwannomatosis

Skeletal Radiology, 2013
This study investigates the clinical, radiological, and pathological features of two cases of intraosseous schwannoma that arose in patients with multiple soft tissue schwannomas. In both cases, the patients were adult females and the tibial bone was affected.
T G, Kashima, M R J P, Gibbons, D, Whitwell, C L M H, Gibbons, K M, Bradley, S J, Ostlere, N A, Athanasou   +6 more
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Schwannomatosis: The Overlooked Neurofibromatosis?

American Journal of Roentgenology, 2013
Schwannomas are typically benign tumors that occur sporadically, in neurofibromatosis type 2 (NF2), or in an entity called "schwannomatosis." Schwannomatosis patients develop multiple schwannomas without involvement of the vestibular apparatus. Geneticists, neurologists, and pathologists have recognized that schwannomatosis is distinct from NF2, but ...
Nicholas A, Koontz, Andrea L, Wiens, Atul, Agarwal, Cynthia M, Hingtgen, Robert E, Emerson, Kristine M, Mosier   +5 more
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Diagnostic criteria for schwannomatosis

Neurology, 2005
The neurofibromatoses are a diverse group of genetic conditions that share a predisposition to the development of tumors of the nerve sheath. Schwannomatosis is a recently recognized third major form of neurofibromatosis (NF) that causes multiple schwannomas without vestibular tumors diagnostic of NF2.
M, MacCollin, E A, Chiocca, D G, Evans, J M, Friedman, R, Horvitz, D, Jaramillo, M, Lev, V F, Mautner, M, Niimura, S R, Plotkin, C N, Sang, A, Stemmer-Rachamimov, E S, Roach   +12 more
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Schwannomatosis

Archives of Dermatology, 1989
• Multiple schwannomas have frequently been seen in patients with neurofibromatosis. Recently, the association of multiple cutaneous schwannomas, central nervous system tumors, and various neurologic deficits has been described in Japanese patients as a condition called schwannomatosis.
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