Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2011-2-14
pubmed:abstractText
Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic NF2 mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients. In contrast, germline mutations of the SMARCB1 (INI1) tumor suppressor gene were described in familial and sporadic schwannomatosis patients.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/21255467-15955931, http://linkedlifedata.com/resource/pubmed/commentcorrection/21255467-17357086, http://linkedlifedata.com/resource/pubmed/commentcorrection/21255467-18072270, http://linkedlifedata.com/resource/pubmed/commentcorrection/21255467-18285426, http://linkedlifedata.com/resource/pubmed/commentcorrection/21255467-18647326, http://linkedlifedata.com/resource/pubmed/commentcorrection/21255467-19320657, http://linkedlifedata.com/resource/pubmed/commentcorrection/21255467-19582488, http://linkedlifedata.com/resource/pubmed/commentcorrection/21255467-19898272, http://linkedlifedata.com/resource/pubmed/commentcorrection/21255467-19912265, http://linkedlifedata.com/resource/pubmed/commentcorrection/21255467-20472658, http://linkedlifedata.com/resource/pubmed/commentcorrection/21255467-20930055
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1471-2377
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
9
pubmed:dateRevised
2011-7-25
pubmed:meshHeading
pubmed-meshheading:21255467-Adolescent, pubmed-meshheading:21255467-Adult, pubmed-meshheading:21255467-Aged, pubmed-meshheading:21255467-Child, pubmed-meshheading:21255467-Child, Preschool, pubmed-meshheading:21255467-Chromosomal Proteins, Non-Histone, pubmed-meshheading:21255467-DNA-Binding Proteins, pubmed-meshheading:21255467-Exons, pubmed-meshheading:21255467-Female, pubmed-meshheading:21255467-Genetic Predisposition to Disease, pubmed-meshheading:21255467-Germ-Line Mutation, pubmed-meshheading:21255467-Humans, pubmed-meshheading:21255467-Male, pubmed-meshheading:21255467-Middle Aged, pubmed-meshheading:21255467-Neurilemmoma, pubmed-meshheading:21255467-Neurofibromatoses, pubmed-meshheading:21255467-Sequence Analysis, DNA, pubmed-meshheading:21255467-Skin Neoplasms, pubmed-meshheading:21255467-Transcription Factors
pubmed:year
2011
pubmed:articleTitle
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.
pubmed:affiliation
Laboratory of Molecular Oncogenetics, Institut Paoli-Calmettes, Marseille, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't