Results 31 to 40 of about 4,213 (222)

Immortalized Human Schwann Cell Lines Derived From Tumors of Schwannomatosis Patients.

PLoS ONE, 2015
Schwannomatosis, a rare form of neurofibromatosis, is characterized predominantly by multiple, often painful, schwannomas throughout the peripheral nervous system. The current standard of care for schwannomatosis is surgical resection.
Kimberly Laskie Ostrow, Katelyn Donaldson, Jaishri Blakeley, Allan Belzberg, Ahmet Hoke   +4 more
doaj   +1 more source

Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis. [PDF]

Sci Rep
The identification of structural variant (SV) breakpoints plays a crucial role in understanding the genetic variants, mutagenic mechanisms, and functional consequences that drive various genetic diseases. While next-generation sequencing (NGS) has become
Montini M, Bonacchi L, Sidoti D, Cuccoli S, Pantaleo M, Peron A, Scuffi I, DosSantos MF, Nassini R, De Logu F, Papi L.   +10 more
europepmc   +2 more sources

Hybrid neurofibroma/schwannoma in schwannomatosis-a diagnostically challenging benign peripheral nerve sheath tumour. [PDF]

Fam Cancer
Hybrid neurofibroma/schwannoma tumors (HNS) represent a still underrecognized, yet clinically and diagnostically significant entity within the spectrum of schwannomatosis (SWN).
Tippner D, Anokhin M, Scheffler J, Hellmann F, Plontke SK, Leisz S, Harder A.   +6 more
europepmc   +2 more sources

Benign retroperitoneal schwannoma presenting as colitis: A case report [PDF]

, 2007
We report a case of a patient presenting with clinical , radiological and endoscopic features of colitis due to a compressive left para-aortic mass.
Claes, Kathleen, da Costa, Pierre Mendes, Duttmann, Ruth, Fass, Gary, Hossey, Didier, Nyst, Michel, Saligheh, Esmail Najar, Smets, Dirk   +7 more
core   +2 more sources

Multiple neurogenic extracranial tumors. Clinical, MRI features, and diagnostic difficulties [PDF]

Romanian Journal of Neurology, 2013
A case of multiple neurogenic tumors is presented. A native MRI (head and cervical spine) identified multiple bilateral tumors in the intraorbital space and cervical tumors. Based on the clinical course, imaging features and diagnosis criteria a possible
Adriana Bulboaca, Camelia Aron, Renata Kovacsz, Angelo Bulboaca   +3 more
doaj   +1 more source

Distinct Imaging Features of Peripheral Nerve Sheath Tumours in <i>NF2</i>-Related Schwannomatosis: A Case Report. [PDF]

Case Rep Neurol Med
Peripheral nerve sheath tumours (PNST) are an important feature of the NF2‐related schwannomatosis. These constitute primarily schwannomas which are characterized as nodular, solitary benign tumours of single fascicles.
Hanna K, Cristiana R, Natalie W, Alexander G, Thomas N, Hendrik R, Ulrich SM.   +6 more
europepmc   +2 more sources

Current whole-body MRI applications in the neurofibromatoses [PDF]

, 2016
ObjectivesThe Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration Whole-Body MRI (WB-MRI) Working Group reviewed the existing literature on WB-MRI, an emerging technology for assessing disease in patients with
Ahlawat, S, Blakeley, JO, Bredella, MA, Cai, W, Chhabra, A, Dombi, E, Evans, DG, Farschtschi, S, Fayad, LM, Hanemann, CO, Harris, GJ, Jacobs, MA, Khan, MS, Mautner, VF, Plotkin, SR, Salamon, JM, Wenzel, R   +16 more
core   +3 more sources

Mapping the Somatic Mutation Landscape of Familial NF2-Related Schwannomatosis using Whole-Exome Sequencing. [PDF]

Int J Med Sci
Background: Neurofibromatosis type 2 (NF2), currently more accurately named NF2-related schwannomatosis (NF2-SWN), is classified as a multiple tumor syndrome, caused by impaired expression of the merlin protein.
Luo F, Jiang L, Pan Y, Li H, Tan J, Wu C, Liu Q.   +6 more
europepmc   +2 more sources

Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials. [PDF]

, 2016
ObjectiveTumors and other disease complications of neurofibromatosis (NF) can cause pain and negatively affect physical functioning. To document the clinical benefit of treatment in NF trials targeting these manifestations, patient-reported outcomes ...
Baldwin, A, Bergner, AL, Dudley, WN, Franklin, B, Gardner, KL, Hanemann, CO, HIngtgen, CM, Martin, S, Merker, VL, Schorry, E, Soloman, SE, Thompson, HL, Tonsgard, JH, Walsh, K, Wolters, PL   +14 more
core   +2 more sources

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

BMC Neurology, 2011
Background Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic NF2 mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients.
Bourdon Violaine, Noguchi Tetsuro, Rousseau Guillaume, Sobol Hagay, Olschwang Sylviane   +4 more
doaj   +1 more source