Associated Papers
SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.
Kehrer-Sawatzki H et al.
Familial Cancer, 2025
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.
Diets IJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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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