FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3176390551> ?p ?o ?g. }

• W3176390551 endingPage "557" @default.
• W3176390551 startingPage "550" @default.
• W3176390551 abstract "Scimitar syndrome is a rare CHD composed of partial anomalous pulmonary venous connection from the right lung, via a scimitar vein, to the inferior vena cava rather than the left atrium. Genetic conditions associated with scimitar syndrome have not been well investigated at present.Our study included patients with scimitar syndrome diagnosed at Texas Children's Hospital from January 1987 to July 2020. Medical records were evaluated to determine if genetic testing was performed, including chromosomal microarray analysis or whole-exome sequencing. Copy number variants identified as pathogenic/likely pathogenic and variants of unknown significance were collected. Analyses of cardiac and extracardiac findings were performed via chart review.Ninety-eight patients were identified with scimitar syndrome, 89 of which met inclusion criteria. A chromosome analysis or chromosomal microarray analysis was performed in 18 patients (20%). Whole-exome sequencing was performed in six patients following negative chromosomal microarray analysis testing. A molecular genetic diagnosis was made in 7 of 18 cases (39% of those tested). Ninety-six per cent of the cohort had some type of extracardiac finding, with 43% having asthma and 20% having a gastrointestinal pathology. Of the seven patients with positive genetic testing, all had extracardiac anomalies with all but one having gastrointestinal findings and 30% having congenital diaphragmatic hernia.Genetic testing revealed an underlying diagnosis in roughly 40% of those tested. Given the relatively high prevalence of pathogenic variants, we recommend chromosomal microarray analysis and whole-exome sequencing for patients with scimitar syndrome and extracardiac defects." @default.
• W3176390551 created "2021-07-05" @default.
• W3176390551 creator A5020666336 @default.
• W3176390551 creator A5023522510 @default.
• W3176390551 creator A5046308731 @default.
• W3176390551 creator A5066345693 @default.
• W3176390551 creator A5085873463 @default.
• W3176390551 date "2021-07-02" @default.
• W3176390551 modified "2023-10-14" @default.
• W3176390551 title "The frequency and efficacy of genetic testing in individuals with scimitar syndrome" @default.
• W3176390551 cites W1493358511 @default.
• W3176390551 cites W1590146248 @default.
• W3176390551 cites W1818326830 @default.
• W3176390551 cites W1962362613 @default.
• W3176390551 cites W1975232450 @default.
• W3176390551 cites W1979030147 @default.
• W3176390551 cites W1983616787 @default.
• W3176390551 cites W1997746607 @default.
• W3176390551 cites W1999284061 @default.
• W3176390551 cites W2008586203 @default.
• W3176390551 cites W2022575653 @default.
• W3176390551 cites W2025207473 @default.
• W3176390551 cites W2028077252 @default.
• W3176390551 cites W2051977513 @default.
• W3176390551 cites W2051978340 @default.
• W3176390551 cites W2070811374 @default.
• W3176390551 cites W2072990016 @default.
• W3176390551 cites W2085647894 @default.
• W3176390551 cites W2111019868 @default.
• W3176390551 cites W2168292749 @default.
• W3176390551 cites W2335326851 @default.
• W3176390551 cites W2590394296 @default.
• W3176390551 cites W2753677632 @default.
• W3176390551 cites W2765918438 @default.
• W3176390551 cites W2778120113 @default.
• W3176390551 cites W2791511391 @default.
• W3176390551 cites W2792836219 @default.
• W3176390551 cites W2804836377 @default.
• W3176390551 cites W2894833808 @default.
• W3176390551 cites W2901940932 @default.
• W3176390551 cites W2905150311 @default.
• W3176390551 cites W2913244950 @default.
• W3176390551 cites W2919234963 @default.
• W3176390551 cites W2943900631 @default.
• W3176390551 cites W2970019064 @default.
• W3176390551 cites W3020531561 @default.
• W3176390551 cites W3093535755 @default.
• W3176390551 cites W58552938 @default.
• W3176390551 doi "https://doi.org/10.1017/s1047951121002535" @default.
• W3176390551 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34210367" @default.
• W3176390551 hasPublicationYear "2021" @default.
• W3176390551 type Work @default.
• W3176390551 sameAs 3176390551 @default.
• W3176390551 citedByCount "2" @default.
• W3176390551 countsByYear W31763905512023 @default.
• W3176390551 crossrefType "journal-article" @default.
• W3176390551 hasAuthorship W3176390551A5020666336 @default.
• W3176390551 hasAuthorship W3176390551A5023522510 @default.
• W3176390551 hasAuthorship W3176390551A5046308731 @default.
• W3176390551 hasAuthorship W3176390551A5066345693 @default.
• W3176390551 hasAuthorship W3176390551A5085873463 @default.
• W3176390551 hasBestOaLocation W31763905512 @default.
• W3176390551 hasConcept C104317684 @default.
• W3176390551 hasConcept C10590036 @default.
• W3176390551 hasConcept C120821319 @default.
• W3176390551 hasConcept C126322002 @default.
• W3176390551 hasConcept C141231307 @default.
• W3176390551 hasConcept C142724271 @default.
• W3176390551 hasConcept C16671776 @default.
• W3176390551 hasConcept C2776279631 @default.
• W3176390551 hasConcept C2777714996 @default.
• W3176390551 hasConcept C2780673598 @default.
• W3176390551 hasConcept C501734568 @default.
• W3176390551 hasConcept C54355233 @default.
• W3176390551 hasConcept C71924100 @default.
• W3176390551 hasConcept C86803240 @default.
• W3176390551 hasConceptScore W3176390551C104317684 @default.
• W3176390551 hasConceptScore W3176390551C10590036 @default.
• W3176390551 hasConceptScore W3176390551C120821319 @default.
• W3176390551 hasConceptScore W3176390551C126322002 @default.
• W3176390551 hasConceptScore W3176390551C141231307 @default.
• W3176390551 hasConceptScore W3176390551C142724271 @default.
• W3176390551 hasConceptScore W3176390551C16671776 @default.
• W3176390551 hasConceptScore W3176390551C2776279631 @default.
• W3176390551 hasConceptScore W3176390551C2777714996 @default.
• W3176390551 hasConceptScore W3176390551C2780673598 @default.
• W3176390551 hasConceptScore W3176390551C501734568 @default.
• W3176390551 hasConceptScore W3176390551C54355233 @default.
• W3176390551 hasConceptScore W3176390551C71924100 @default.
• W3176390551 hasConceptScore W3176390551C86803240 @default.
• W3176390551 hasIssue "4" @default.
• W3176390551 hasLocation W31763905511 @default.
• W3176390551 hasLocation W31763905512 @default.
• W3176390551 hasLocation W31763905513 @default.
• W3176390551 hasOpenAccess W3176390551 @default.
• W3176390551 hasPrimaryLocation W31763905511 @default.
• W3176390551 hasRelatedWork W1983406990 @default.
• W3176390551 hasRelatedWork W2043256480 @default.

• next