Results 111 to 120 of about 3,249 (205)

Schwannomatosis [PDF]

, 2020
openaire   +2 more sources

Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis:A potential model for rare diseases [PDF]

Background Neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis (grouped under the abbreviation "NF") are rare hereditary tumor predisposition syndromes.
Azizi, Amedeo A., Bakker, Annette, Blakeley, Jaishri O., Carton, Charlotte, Dhaenens, Britt A. E., Driever, Pablo Hernaiz, Evans, D. Gareth, Ferner, Rosalie E., Fisher, Michael J., Gross, Andrea, Heimann, Guenter, Iloeje, Uchenna, Kim, Aerang, Kirk, George, Legius, Eric, Leubner, Jonas, Nievo, Marco, Oostenbrink, Rianne, Parke, Tom, Plotkin, Scott, Potratz, Cornelia, Widemann, Brigitte C., Wolkenstein, Pierre   +22 more
core   +2 more sources

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

KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth [PDF]

, 2017
Anastasaki, Corina, Dahiya, Sonika, Gutmann, David H   +2 more
core   +3 more sources

Effects of higher-than-expected control population allele frequency on classification of loss-of-function variants in cancer susceptibility genes

A query was sent to the cancer predisposition gene variant database Cancer Variant Interpretation Group UK, on the nonsense variant in NM_032043.3( BRIP1):c.2392C>T,p.(Arg798Ter).
Burghel, George J, Evans, D Gareth, Smith, Miriam J   +2 more
core   +2 more sources

Schwannomatosis [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
openaire   +1 more source

Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis

Purpose To determine the impact of additional genetic screening techniques on the rate of detection of pathogenic variants leading to familial NF2-related schwannomatosis.Methods We conducted genetic screening of a cohort of 168 second-generation ...
Burghel, George, Evans, Dafydd, Hartley, Claire, Perez-Becerril, Cristina, Rowlands, Charles, Smith, Miriam   +5 more
core   +2 more sources

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

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

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