FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2005094648> ?p ?o ?g. }

• W2005094648 endingPage "72" @default.
• W2005094648 startingPage "68" @default.
• W2005094648 abstract "<h3>Background:</h3> The role of germline and somatic <i>SMARCB1</i> gene mutations in malignant rhabdoid tumour (MRT) predisposition is well known. Germline <i>SMARCB1</i> mutations have also recently been identified in a subset of individuals with schwannomatosis. Surprisingly, MRT predisposition and schwannomatosis have never been reported to co-occur in a family. The correlation between genotype and phenotype for mutations in <i>SMARCB1</i> has not been determined. <h3>Results:</h3> We have identified a germline 2631 bp duplication that includes exon 6 of <i>SMARCB1</i> in a unique family with a four generation history of MRT predisposition and schwannomatosis. This duplication segregates with disease in individuals affected with both conditions, linking MRT predisposition and schwannomatosis as components of the same syndrome in this family. <h3>Conclusion:</h3> The unique combination of tumours that result from the duplication described in this report may provide important clues about the mechanisms that influence the phenotype associated with a given <i>SMARCB1</i> mutation." @default.
• W2005094648 created "2016-06-24" @default.
• W2005094648 creator A5009326615 @default.
• W2005094648 creator A5021656514 @default.
• W2005094648 creator A5023572421 @default.
• W2005094648 creator A5027360115 @default.
• W2005094648 creator A5039716945 @default.
• W2005094648 creator A5051355838 @default.
• W2005094648 date "2008-09-19" @default.
• W2005094648 modified "2023-10-02" @default.
• W2005094648 title "Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1" @default.
• W2005094648 cites W1584922891 @default.
• W2005094648 cites W1760824447 @default.
• W2005094648 cites W1988902515 @default.
• W2005094648 cites W1989265039 @default.
• W2005094648 cites W1990706646 @default.
• W2005094648 cites W1995062360 @default.
• W2005094648 cites W1999340868 @default.
• W2005094648 cites W2048599590 @default.
• W2005094648 cites W2081534093 @default.
• W2005094648 cites W2090004244 @default.
• W2005094648 cites W2101868032 @default.
• W2005094648 cites W2106139451 @default.
• W2005094648 cites W2128140173 @default.
• W2005094648 cites W2143617564 @default.
• W2005094648 cites W2163975452 @default.
• W2005094648 doi "https://doi.org/10.1136/jmg.2008.060152" @default.
• W2005094648 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2843150" @default.
• W2005094648 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19124645" @default.
• W2005094648 hasPublicationYear "2008" @default.
• W2005094648 type Work @default.
• W2005094648 sameAs 2005094648 @default.
• W2005094648 citedByCount "87" @default.
• W2005094648 countsByYear W20050946482012 @default.
• W2005094648 countsByYear W20050946482013 @default.
• W2005094648 countsByYear W20050946482014 @default.
• W2005094648 countsByYear W20050946482015 @default.
• W2005094648 countsByYear W20050946482016 @default.
• W2005094648 countsByYear W20050946482017 @default.
• W2005094648 countsByYear W20050946482018 @default.
• W2005094648 countsByYear W20050946482019 @default.
• W2005094648 countsByYear W20050946482020 @default.
• W2005094648 countsByYear W20050946482021 @default.
• W2005094648 countsByYear W20050946482022 @default.
• W2005094648 countsByYear W20050946482023 @default.
• W2005094648 crossrefType "journal-article" @default.
• W2005094648 hasAuthorship W2005094648A5009326615 @default.
• W2005094648 hasAuthorship W2005094648A5021656514 @default.
• W2005094648 hasAuthorship W2005094648A5023572421 @default.
• W2005094648 hasAuthorship W2005094648A5027360115 @default.
• W2005094648 hasAuthorship W2005094648A5039716945 @default.
• W2005094648 hasAuthorship W2005094648A5051355838 @default.
• W2005094648 hasBestOaLocation W20050946482 @default.
• W2005094648 hasConcept C104317684 @default.
• W2005094648 hasConcept C109825262 @default.
• W2005094648 hasConcept C13514818 @default.
• W2005094648 hasConcept C167227067 @default.
• W2005094648 hasConcept C177450382 @default.
• W2005094648 hasConcept C36823959 @default.
• W2005094648 hasConcept C41091548 @default.
• W2005094648 hasConcept C501734568 @default.
• W2005094648 hasConcept C502942594 @default.
• W2005094648 hasConcept C54355233 @default.
• W2005094648 hasConcept C7602840 @default.
• W2005094648 hasConcept C86803240 @default.
• W2005094648 hasConceptScore W2005094648C104317684 @default.
• W2005094648 hasConceptScore W2005094648C109825262 @default.
• W2005094648 hasConceptScore W2005094648C13514818 @default.
• W2005094648 hasConceptScore W2005094648C167227067 @default.
• W2005094648 hasConceptScore W2005094648C177450382 @default.
• W2005094648 hasConceptScore W2005094648C36823959 @default.
• W2005094648 hasConceptScore W2005094648C41091548 @default.
• W2005094648 hasConceptScore W2005094648C501734568 @default.
• W2005094648 hasConceptScore W2005094648C502942594 @default.
• W2005094648 hasConceptScore W2005094648C54355233 @default.
• W2005094648 hasConceptScore W2005094648C7602840 @default.
• W2005094648 hasConceptScore W2005094648C86803240 @default.
• W2005094648 hasIssue "1" @default.
• W2005094648 hasLocation W20050946481 @default.
• W2005094648 hasLocation W20050946482 @default.
• W2005094648 hasLocation W20050946483 @default.
• W2005094648 hasLocation W20050946484 @default.
• W2005094648 hasOpenAccess W2005094648 @default.
• W2005094648 hasPrimaryLocation W20050946481 @default.
• W2005094648 hasRelatedWork W1489089338 @default.
• W2005094648 hasRelatedWork W1840856309 @default.
• W2005094648 hasRelatedWork W2004209173 @default.
• W2005094648 hasRelatedWork W2005094648 @default.
• W2005094648 hasRelatedWork W2009648436 @default.
• W2005094648 hasRelatedWork W2060169551 @default.
• W2005094648 hasRelatedWork W2409614280 @default.
• W2005094648 hasRelatedWork W2417766600 @default.
• W2005094648 hasRelatedWork W2613868166 @default.
• W2005094648 hasRelatedWork W300580931 @default.
• W2005094648 hasVolume "46" @default.
• W2005094648 isParatext "false" @default.
• W2005094648 isRetracted "false" @default.
• W2005094648 magId "2005094648" @default.

• next