Matches in SemOpenAlex for { <https://semopenalex.org/work/W2897401743> ?p ?o ?g. }
Showing items 1 to 90 of
90
with 100 items per page.
- W2897401743 endingPage "519" @default.
- W2897401743 startingPage "516" @default.
- W2897401743 abstract "Capillary malformation-arteriovenous malformation (CM-AVM) is caused by germline RASA1 and EPHB4 alterations. RASA1 intralesional second hits have also been reported. Here we report RASA1 constitutional mosaicism, defined here as the presence of a mosaic variant in all cell types of an individual, in two patients with CM-AVM. High-throughput sequencing was used to search for RASA1 pathogenic variants in blood samples from two unrelated patients with CM-AVM. An affected tissue sample from one of the patients was also analyzed. Both patients showed different nonsense RASA1 variants in mosaic, ranging from 7% to 21.5%, in blood samples and in the corresponding affected tissue sample from one of the patients. In conclusion, we report for the first time the presence of RASA1 constitutional mosaicism in CM-AVM. Constitutional mosaicism has implications for accurate molecular diagnosis and recurrence risk and helps to explain the great phenotypic variability in CM-AVM." @default.
- W2897401743 created "2018-10-26" @default.
- W2897401743 creator A5005942172 @default.
- W2897401743 creator A5031807627 @default.
- W2897401743 creator A5040237484 @default.
- W2897401743 creator A5051048934 @default.
- W2897401743 creator A5061475416 @default.
- W2897401743 creator A5069928322 @default.
- W2897401743 creator A5070928217 @default.
- W2897401743 creator A5090470413 @default.
- W2897401743 date "2019-02-04" @default.
- W2897401743 modified "2023-10-12" @default.
- W2897401743 title "Constitutional mosaicism in<i>RASA1</i>-related capillary malformation-arteriovenous malformation" @default.
- W2897401743 cites W1866582684 @default.
- W2897401743 cites W1973376683 @default.
- W2897401743 cites W2000566468 @default.
- W2897401743 cites W2025096646 @default.
- W2897401743 cites W2041750650 @default.
- W2897401743 cites W2051978340 @default.
- W2897401743 cites W2069192525 @default.
- W2897401743 cites W2074517075 @default.
- W2897401743 cites W2130697192 @default.
- W2897401743 cites W2130998538 @default.
- W2897401743 cites W2155495006 @default.
- W2897401743 cites W2155501369 @default.
- W2897401743 cites W2256016639 @default.
- W2897401743 cites W2293557323 @default.
- W2897401743 cites W2627083739 @default.
- W2897401743 cites W2756468109 @default.
- W2897401743 cites W2762413087 @default.
- W2897401743 cites W2808454041 @default.
- W2897401743 cites W2949152580 @default.
- W2897401743 cites W4235558720 @default.
- W2897401743 doi "https://doi.org/10.1111/cge.13499" @default.
- W2897401743 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30635911" @default.
- W2897401743 hasPublicationYear "2019" @default.
- W2897401743 type Work @default.
- W2897401743 sameAs 2897401743 @default.
- W2897401743 citedByCount "10" @default.
- W2897401743 countsByYear W28974017432019 @default.
- W2897401743 countsByYear W28974017432020 @default.
- W2897401743 countsByYear W28974017432022 @default.
- W2897401743 countsByYear W28974017432023 @default.
- W2897401743 crossrefType "journal-article" @default.
- W2897401743 hasAuthorship W2897401743A5005942172 @default.
- W2897401743 hasAuthorship W2897401743A5031807627 @default.
- W2897401743 hasAuthorship W2897401743A5040237484 @default.
- W2897401743 hasAuthorship W2897401743A5051048934 @default.
- W2897401743 hasAuthorship W2897401743A5061475416 @default.
- W2897401743 hasAuthorship W2897401743A5069928322 @default.
- W2897401743 hasAuthorship W2897401743A5070928217 @default.
- W2897401743 hasAuthorship W2897401743A5090470413 @default.
- W2897401743 hasConcept C104317684 @default.
- W2897401743 hasConcept C109825262 @default.
- W2897401743 hasConcept C141071460 @default.
- W2897401743 hasConcept C2777507709 @default.
- W2897401743 hasConcept C2779603958 @default.
- W2897401743 hasConcept C54355233 @default.
- W2897401743 hasConcept C71924100 @default.
- W2897401743 hasConcept C86803240 @default.
- W2897401743 hasConceptScore W2897401743C104317684 @default.
- W2897401743 hasConceptScore W2897401743C109825262 @default.
- W2897401743 hasConceptScore W2897401743C141071460 @default.
- W2897401743 hasConceptScore W2897401743C2777507709 @default.
- W2897401743 hasConceptScore W2897401743C2779603958 @default.
- W2897401743 hasConceptScore W2897401743C54355233 @default.
- W2897401743 hasConceptScore W2897401743C71924100 @default.
- W2897401743 hasConceptScore W2897401743C86803240 @default.
- W2897401743 hasIssue "4" @default.
- W2897401743 hasLocation W28974017431 @default.
- W2897401743 hasLocation W28974017432 @default.
- W2897401743 hasOpenAccess W2897401743 @default.
- W2897401743 hasPrimaryLocation W28974017431 @default.
- W2897401743 hasRelatedWork W1988496665 @default.
- W2897401743 hasRelatedWork W2077744056 @default.
- W2897401743 hasRelatedWork W2113377893 @default.
- W2897401743 hasRelatedWork W2188535921 @default.
- W2897401743 hasRelatedWork W2547794367 @default.
- W2897401743 hasRelatedWork W2762413087 @default.
- W2897401743 hasRelatedWork W3159562927 @default.
- W2897401743 hasRelatedWork W4234606113 @default.
- W2897401743 hasRelatedWork W4310781886 @default.
- W2897401743 hasRelatedWork W1896726944 @default.
- W2897401743 hasVolume "95" @default.
- W2897401743 isParatext "false" @default.
- W2897401743 isRetracted "false" @default.
- W2897401743 magId "2897401743" @default.
- W2897401743 workType "article" @default.