Associated Papers
Germline mutational landscape in a large cohort of Indian breast cancer.
Peter J et al.
Bmc Cancer, 2025
Inactivation of Epigenetic Regulators due to Mutations in Solid Tumors.
Nemtsova MV et al.
Biochemistry. Biokhimiia, 2020
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
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
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
Caltabiano R et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2017
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
27921248 (PubMed )
Supplement: 439_2016_1753_MOESM1_ESM.doc
The SWI/SNF Subunit INI1 Contains an N-Terminal Winged Helix DNA Binding Domain that Is a Target for Mutations in Schwannomatosis.
Allen MD et al.
Structure (london, England : 1993), 2015
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.
Smith MJ et al.
Cancer Genetics, 2014
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
Smith MJ et al.
Human Molecular Genetics, 2012
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.
Smith MJ et al.
Neurogenetics, 2012
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.
Bacci C et al.
Neurogenetics, 2010
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis.
Boyd C et al.
Clinical Genetics, 2008
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.
Hadfield KD et al.
Journal of Medical Genetics, 2008
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