Results 121 to 130 of about 1,956 (168)

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar. [PDF]

Cancer Genet
Satish S, Bone M, Ritter D, Plon SE.
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Biallelic germline MBD4 mutations predispose to colorectal polyposis, hypermutated AML, and schwannomas. [PDF]

Fam Cancer
Cooper J, Stewart BL, Bokovitz L, Carraway H, Mukherjee S, Liska D, Vasu S, Lesmana H, Blachly JS.   +8 more
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Fimepinostat Promotes Apoptosis and Decreases Cytokine Secretion in <i>NF2</i>-Related Human Schwannoma Cells. [PDF]

Int J Mol Sci
Nagel A, Hass EW, Hayes H, Huelbes L, Oliveira S, Hardin HM, Marasigan M, Nisenbaum E, Misztal C, Telischi FF, Ivan ME, Liu XZ, Bracho OR, Dinh CT, Fernandez-Valle C.   +14 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 ...
Robert Emerson, Nicholas Koontz, Atul Agarwal   +2 more
exaly   +3 more sources

Neurofibromatosis and Schwannomatosis

Seminars in Neurology, 2018
Neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis are a group of related classically inherited but often times sporadic tumor suppressor syndromes. Neuro-oncologists should recognize these syndromes, initiate necessary tests in patients with a clinical suspicion, and support genetic counseling of patients and families.
Scott R, Plotkin, Antje, Wick
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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
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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
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Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up

Journal of Neurosurgery, 2011
Object The aim of this study was to provide disease-specific information about schwannomatosis in its different forms and to present 2 particular cases of malignant schwannomas in the context of familial schwannomatosis (FS). Methods The authors analyzed patients with pathologically defined schwannomas and identified those with varied forms of ...
Augusto, Gonzalvo, Adam, Fowler, Raymond John, Cook, Nicholas Scott, Little, Helen, Wheeler, Kerrie L, McDonald, Michael Thomas, Biggs   +6 more
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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
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