Condition: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)


rs1555877276 in SMARCB1 gene and RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) PMID 21208904 2011 Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor.

PMID 10521299 1999 Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.

PMID 20848638 2011 Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system.

PMID 26998479 2015 Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency.

PMID 21108436 2011 Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.

PMID 24933152 2014 SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.

PMID 18647326 2008 Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis.

PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.