Results 21 to 30 of about 3,249 (205)

A Rare Case of Familial Schwannomatosis Showing Intrafamilial Variability with Identification of a Shared Novel Germline SMARCB1 Mutation

Medicina, 2022
Schwannomatosis is characterized by the presence of multiple schwannomas without landmarks of NF2. It is considered the rarest form of neurofibromatosis (NF).
Jun Hyun Lee, Jae Seok Jeong, Kum Ju Chae, Yeon-Hee Han, So Ri Kim, Yong Chul Lee   +5 more
doaj   +1 more source

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis [PDF]

, 2016
Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations ...
Cooper, David Neil, Farschtschi, Said, Kehrer-Sawatzki, Hildegard, Mautner, Victor-Felix   +3 more
core   +3 more sources

Neurofibromas in LZTR1 schwannomatosis [PDF]

Clinical Genetics, 2022
Contains fulltext : 252012.pdf (Publisher’s version ) (Open Access)
Justus L. Groen, Setareh Moghadasi, Liesbeth Spruijt, Esther Korpershoek, Yvette van Ierland, J. Tom van Wezel, Sjoerd van Duinen, Martijn J. A. Malessy, Saskia A.J. Lesnik Oberstein   +8 more
openaire   +3 more sources

[18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis

Orphanet Journal of Rare Diseases, 2021
Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain.
I. Gallais Sérézal, S. Ferkal, L. Lerman, S. Mulé, B. Funalot, P. Wolkenstein   +5 more
doaj   +1 more source

Bilateral trigeminal nerve sheath tumors treated with stereotactic radiosurgery: A case report

Interdisciplinary Neurosurgery, 2021
Bilateral trigeminal nerve sheath tumors are extremely rare with a paucity of previously disseminated cases. In addition, bilateral nerve sheath tumors are often secondary to genetic conditions such as Neurofibromatosis (NF) 2 and schwannomatosis.
Carlin Chuck, Rahul Amrutur Sastry, Deus Cielo   +2 more
doaj   +1 more source

LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis

Molecular Genetics & Genomic Medicine, 2021
Background Dual diagnoses in genetics practice are not uncommon and patients with dual diagnosis often present with complex and challenging phenotypes.
Karthik Muthusamy, Maciej M. Mrugala, Bernard R. Bendok, Radhika Dhamija   +3 more
doaj   +1 more source

Schwannomatosis del pie

Medisan, 2013
Se describe el caso clínico de un paciente de 34 años de edad, quien presentaba múltiples schwannomas en el tercer ramo de bifurcación de la rama interna del nervio musculocutáneo, así como en los nervios colateral dorsal externo e interno del segundo y ...
Luis Enrique Montoya Cardero, Feliberto Blanco Trujillo, Juan Carlos Hernández González, David Alexander Junco Gelpi, Osmanis Moncada Josephs   +4 more
doaj   +1 more source

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

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

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb [PDF]

, 2015
Background: A clinical overlap exists between mosaic Neurofibromatosis Type 2 and sporadic Schwannomatosis conditions. In these cases a molecular analysis of tumors is recommended for a proper genetic diagnostics.
Amilibia, Emilio, Bielsa, Isabel, Blanco Guillermo, Ignacio, Carrato, Cristina, Castellanos, Elisabeth, Hostalot, Cristina, Lázaro García, Conxi, NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC, Prades, José, Roca Ribas, Francesc, Rosas, Inma, Serra Arenas, Eduard, Solanes, Ares   +12 more
core   +4 more sources