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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2010-11-25
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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.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1545-5017
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
56
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
7-15
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pubmed:dateRevised |
2011-5-4
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pubmed:meshHeading |
pubmed-meshheading:21108436-Child, Preschool,
pubmed-meshheading:21108436-Chromosomal Proteins, Non-Histone,
pubmed-meshheading:21108436-Chromosomes, Human, Pair 22,
pubmed-meshheading:21108436-DNA Mutational Analysis,
pubmed-meshheading:21108436-DNA-Binding Proteins,
pubmed-meshheading:21108436-Family,
pubmed-meshheading:21108436-Female,
pubmed-meshheading:21108436-Gene Deletion,
pubmed-meshheading:21108436-Genetic Predisposition to Disease,
pubmed-meshheading:21108436-Germ-Line Mutation,
pubmed-meshheading:21108436-Humans,
pubmed-meshheading:21108436-Infant,
pubmed-meshheading:21108436-Infant, Newborn,
pubmed-meshheading:21108436-Male,
pubmed-meshheading:21108436-Mosaicism,
pubmed-meshheading:21108436-Penetrance,
pubmed-meshheading:21108436-Rhabdoid Tumor,
pubmed-meshheading:21108436-Transcription Factors
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pubmed:year |
2011
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pubmed:articleTitle |
Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.
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pubmed:affiliation |
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
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pubmed:publicationType |
Journal Article,
Research Support, N.I.H., Extramural
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