| scholarly article | Q13442814 |
| P50 | author | James F. Gusella | Q1602688 |
| Anat Stemmer-Rachamimov | Q111143076 | ||
| P2093 | author name string | Yiping Shen | |
| Scott R Plotkin | |||
| Miriam J Smith | |||
| James A Walker | |||
| P2860 | cites work | Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers | Q24534231 |
| Cell cycle arrest and repression of cyclin D1 transcription by INI1/hSNF5. | Q24537644 | ||
| Germline mutation of INI1/SMARCB1 in familial schwannomatosis | Q24682982 | ||
| Diagnostic criteria for schwannomatosis | Q28256490 | ||
| Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas | Q28260652 | ||
| Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer | Q28277002 | ||
| Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation | Q28279755 | ||
| Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors | Q28294240 | ||
| Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1 | Q33744341 | ||
| Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors | Q34915348 | ||
| Familial schwannomatosis: exclusion of the NF2 locus as the germline event | Q38451805 | ||
| Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. | Q42020615 | ||
| Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines | Q45795446 | ||
| Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis | Q57266689 | ||
| Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis | Q77885035 | ||
| Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis | Q81684801 | ||
| Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations | Q94860813 | ||
| P433 | issue | 24 | |
| P304 | page(s) | 5239-5245 | |
| P577 | publication date | 2012-09-04 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | Expression of SMARCB1 (INI1) mutations in familial schwannomatosis | |
| P478 | volume | 21 |
| Q55638662 | CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies. |
| Q61965595 | Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer |
| Q46651440 | Concurrent myeloid sarcoma, atypical teratoid/rhabdoid tumor, and hypereosinophilia in an infant with a germline SMARCB1 mutation |
| Q27027021 | Extracranial rhabdoid tumours: what we have learned so far and future directions |
| Q45382547 | Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). |
| Q39126217 | Loss of IGFBP7 expression and persistent AKT activation contribute to SMARCB1/Snf5-mediated tumorigenesis |
| Q87986889 | Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome |
| Q52984278 | Multiparametric whole-body anatomic, functional, and metabolic imaging characteristics of peripheral lesions in patients with schwannomatosis. |
| Q30394068 | Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis |
| Q91622156 | Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects |
| Q49557868 | Pain correlates with germline mutation in schwannomatosis |
| Q39003338 | Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors. |
| Q33802660 | Primary atypical teratoid/rhabdoid tumor of central nervous system in children: a clinicopathological analysis and review of literature in China |
| Q38121136 | Rhabdoid tumors: clinical approaches and molecular targets for innovative therapy |
| Q47894129 | SMARCB1-deficient Tumors of Childhood: A Practical Guide |
| Q55292232 | Sporadic NF2 Mosaic: Multiple spinal schwannomas presenting with severe, intractable pain following pregnancy. |
| Q24338138 | The SWI/SNF Subunit INI1 Contains an N-Terminal Winged Helix DNA Binding Domain that Is a Target for Mutations in Schwannomatosis |
| Q92025302 | The SWI/SNF complex in cancer - biology, biomarkers and therapy |
| Q37601480 | The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis |
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