pubmed-article:21108436 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:21108436 | lifeskim:mentions | umls-concept:C0241888 | lld:lifeskim |
pubmed-article:21108436 | lifeskim:mentions | umls-concept:C0206743 | lld:lifeskim |
pubmed-article:21108436 | lifeskim:mentions | umls-concept:C0292369 | lld:lifeskim |
pubmed-article:21108436 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:21108436 | lifeskim:mentions | umls-concept:C0812273 | lld:lifeskim |
pubmed-article:21108436 | lifeskim:mentions | umls-concept:C0205422 | lld:lifeskim |
pubmed-article:21108436 | lifeskim:mentions | umls-concept:C2827424 | lld:lifeskim |
pubmed-article:21108436 | pubmed:issue | 1 | lld:pubmed |
pubmed-article:21108436 | pubmed:dateCreated | 2010-11-25 | lld:pubmed |
pubmed-article:21108436 | pubmed:abstractText | Germline mutations and deletions of SMARCB1/INI1 in chromosome band 22q11.2 predispose patients to rhabdoid tumor and schwannomatosis. Previous estimates suggested that 15-20% of rhabdoid tumors were caused by an underlying germline abnormality of SMARCB1. However, these studies were limited by case selection and an inability to detect intragenic deletions and duplications. | lld:pubmed |
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pubmed-article:21108436 | pubmed:language | eng | lld:pubmed |
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pubmed-article:21108436 | pubmed:citationSubset | IM | lld:pubmed |
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pubmed-article:21108436 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:21108436 | pubmed:month | Jan | lld:pubmed |
pubmed-article:21108436 | pubmed:issn | 1545-5017 | lld:pubmed |
pubmed-article:21108436 | pubmed:author | pubmed-author:BiegelJaclyn... | lld:pubmed |
pubmed-article:21108436 | pubmed:author | pubmed-author:JudkinsAlexan... | lld:pubmed |
pubmed-article:21108436 | pubmed:author | pubmed-author:WainwrightLua... | lld:pubmed |
pubmed-article:21108436 | pubmed:author | pubmed-author:EatonKatherin... | lld:pubmed |
pubmed-article:21108436 | pubmed:author | pubmed-author:TookeLaura... | lld:pubmed |
pubmed-article:21108436 | pubmed:issnType | Electronic | lld:pubmed |
pubmed-article:21108436 | pubmed:volume | 56 | lld:pubmed |
pubmed-article:21108436 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:21108436 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:21108436 | pubmed:pagination | 7-15 | lld:pubmed |
pubmed-article:21108436 | pubmed:dateRevised | 2011-5-4 | lld:pubmed |
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pubmed-article:21108436 | pubmed:year | 2011 | lld:pubmed |
pubmed-article:21108436 | pubmed:articleTitle | Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. | lld:pubmed |
pubmed-article:21108436 | pubmed:affiliation | Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. | lld:pubmed |
pubmed-article:21108436 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:21108436 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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