Results 101 to 110 of about 2,776 (190)

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

, 2011
Schwannomatosis is a recently delineated inherited condition that has clinical overlap with neurofibromatosis type 2 (NF2). Diagnostic criteria have been developed to distinguish schwannomatosis from NF2, but the existence of mosaic NF2, which may ...
Kulkarni, Anjana, Rustad, Cecilie, Naomi L. Bowers, Smith, Miriam J.; id_orcid, Andrew J. Wallace, Ramsden, Richard T., Holder, Susan E., Richard T. Ramsden, Miriam J. Smith, Heiberg, Arvid, Wallace, Andrew J., Evans, D. Gareth; id_orcid, Anjana Kulkarni, Bowers, Naomi L., Cecilie Rustad, Susan E. Holder, Arvid Heiberg, D. Gareth Evans   +17 more
core   +1 more source

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

, 2008
Background: Schwannomatosis is a rare condition characterised by multiple schwannomas and lack of involvement of the vestibular nerve. A recent report identified bi-allelic mutations in the SMARCB1/INI1 gene in a single family with schwannomatosis.
Hadfield, K. D., Wallace, A., McCann, E., Newman, W. G.; id_orcid, Bolger, C., Bowers, N. L., Evans, D. G R; id_orcid, Colley, A., Trump, D., Prescott, T.   +9 more
core   +1 more source

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

, 2017
Schwannomatosis is the third major form of neurofibromatosis and is characterized by the development of multiple schwannomas in the absence of bilateral vestibular schwannomas.
Kalpana, Ganjam V., Stemmer-Rachamimov, Anat, Giovannini, Marco, Ratner, Nancy, Vitte, Jeremie, Plotkin, Scott, Smith, Miriam J., Blakeley, Jaishri O., Papi, Laura, Hunter-Schaedle, Kim, Sherman, Larry S., Hulsebos, Theo J.M., Korf, Bruce, Messiaen, Ludwine, Evans, D. Gareth, Hanemann, C. Oliver   +15 more
core   +1 more source

Clinical severity grading of NF2-related schwannomatosis

Orphanet Journal of Rare Diseases
Background NF2-related schwannomatosis (NF2) is associated with various tumors of the central and peripheral nervous system. There is a wide range of disabilities these patients may suffer from and there is no validated clinical classification for ...
Anna C. Lawson McLean, Denise Löschner, Said Farschtschi, Nora F. Dengler, Steffen K. Rosahl   +4 more
doaj   +1 more source

Plexiform schwannoma in schwannomatosis

Journal of Postgraduate Medicine, 2009
Shinde, S. V., Tyagi, D. K., Sawant, H. V., Puranik, G. V.   +3 more
openaire   +2 more sources

SMARCA4-associated schwannomatosis

Acta Neuropathologica, 2023
Fiona Chan-Pak-Choon, Carla Roca, Anne-Sophie Chong, Clara Nogué, Sonja Dahlum, Rachel Austin, Helen Mar Fan, Karin Y. van Spaendonck-Zwarts, Neil K. Lambie, Thomas Robertson, Reiner Siebert, Barbara Rivera, William D. Foulkes   +12 more
openaire   +2 more sources

Clinical and Imaging Phenotype of Schwannomatosis in Children, Adolescents and Young Adults. [PDF]

Cancers (Basel)
Ahlawat S, Blakeley JO, Fayad LM, Schatz KS, Morris SM, Belzberg AJ, Slobogean B, Romo CG.   +7 more
europepmc   +1 more source

Stereotactic radiosurgery for NF2-related schwannomatosis and schwannomatosis-associated spinal tumors: a single-institution cohort. [PDF]

J Spine Surg
Sanker V, Urdaneta A, Kattaa AH, Li Z, Miller R, Park C, Frantzias J, Park DJ, Chang SD, Desai A.   +9 more
europepmc   +1 more source

Malignant peripheral nerve sheath tumors arising in SMARCB1-associated schwannomatosis: illustrative cases. [PDF]

J Neurosurg Case Lessons
Khalilullah T, Yang X, Yao J, Ghaith AK, Khalifeh JM, Azad TD, Ahmed AK, Xia Y, Theodore N, Romo CG, Wolinsky JP, Belzberg AJ, Lubelski D.   +12 more
europepmc   +1 more source

New Approaches to Clinical Trials for Rare Diseases: Decentralized Trial Design for Neurofibromatosis Type 1 and Schwannomatosis. [PDF]

Cancers (Basel)
Merker VL, Ahlawat S, Avery RA, Bradford D, Gross AM, Janusz J, Lessing AJ, Manth L, McManus ML, Oberlander B, Pichard DC, Riter W, Sarin KY, Sheard S, Sundby RT, Walsh KS, Wolters PL, Widemann BC, Plotkin SR.   +18 more
europepmc   +1 more source