Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors

SMARCB1 Involvement in the Development of Leiomyoma in a Patient With Schwannomatosis

(2014) Theo J.M. Hulsebos et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

(2013) Scott R. Plotkin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

LQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation

(2013) Matthew R. Stump et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Reversible Disruption of mSWI/SNF (BAF) Complexes by the SS18-SSX Oncogenic Fusion in Synovial Sarcoma

(2013) Cigall Kadoch et al.   CELL

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

(2013) Arkadiusz Piotrowski et al.   NATURE GENETICS

High-resolution genomic analysis suggests the absence of recurrent genomic alterations other thanSMARCB1aberrations in atypical teratoid/rhabdoid tumors

(2012) Martin Hasselblatt et al.   GENES CHROMOSOMES & CANCER

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis

(2012) M. J. Smith et al.   HUMAN MOLECULAR GENETICS

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

(2012) Miriam J. Smith et al.   NEUROGENETICS

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

(2011) Guillaume Rousseau et al.   BMC Neurology

Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor

(2011) F. Bourdeaut et al.   CLINICAL CANCER RESEARCH

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors

(2010) Katherine W. Eaton et al.   PEDIATRIC BLOOD & CANCER

Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor

(2009) Uwe Kordes et al.   GENES CHROMOSOMES & CANCER