Results 131 to 140 of about 4,213 (222)

Schwannomatosis [PDF]

, 2020
openaire   +2 more sources

CenterLines, Summer 2013 [PDF]

CenterLines for Families, the newsletter of the Center for Disabilities and Development at the University of Iowa Children’s Hospital, is published four times a year.

core  

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

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

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

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

NF2-Related Schwannomatosis Exhibiting the Complete Constellation of Multiple Inherited Schwannomas, Meningiomas, and Ependymomas (MISME Syndrome)

Case Reports in Neurology
Introduction: NF2-related schwannomatosis (NF2) is a rare inheritable autosomal dominant disorder characterized by multiple nervous system neoplasms. Case Presentation: In this report, we present a rare case of NF2 exhibiting the complete constellation ...
Bonifacio Pedregosa II, Mark Ramos, Steven Villaraza   +2 more
doaj   +1 more source

Schwannomatosis [PDF]

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

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

Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies. [PDF]

Fam Cancer
Smith MJ.
europepmc   +1 more source