Associated Papers
SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.
Kehrer-Sawatzki H et al.
Familial Cancer, 2025
Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant.
Eelloo JA et al.
Familial Cancer, 2019
Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.
Holsten T et al.
European Journal of Human Genetics : Ejhg, 2018
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
Kehrer-Sawatzki H et al.
Human Genetics, 2017
Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors.
Hulsebos TJ et al.
Acta Neuropathologica, 2014
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.
Smith MJ et al.
Cancer Genetics, 2014
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