FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2033545963> ?p ?o ?g. }

• W2033545963 endingPage "35" @default.
• W2033545963 startingPage "30" @default.
• W2033545963 abstract "Abstract BACKGROUND: Conotruncal heart defects compose 25% to 30% of nonsyndromic congenital heart defects. This study describes the frequency of chromosome abnormalities and microdeletion of 22q11 associated among infants and fetuses delivered with conotruncal heart malformations. METHODS: From a population base of 974,579 infants/fetuses delivered, 622 California infants/fetuses were ascertained with a defect of aortopulmonary septation. Infants whose primary cardiac defect was tetralogy of Fallot ( n = 296) or d‐transposition of the great arteries ( n = 189) were screened for microdeletion of 22q11. RESULTS: Of the infants who had routine karyotypes, 5% had chromosomal abnormalities, including four with extra sex chromosomes. Thirty infants had chromosome 22q11 microdeletions, providing a cause for 10% of infants whose primary defect was tetralogy of Fallot. Right aortic arch, abnormal branching patterns of the major arteries arising from the thoracic aorta, and pulmonary artery abnormalities were observed more frequently among infants with tetralogy of Fallot caused by 22q11 microdeletion. CONCLUSIONS: We found an unusual number of infants with an extra sex chromosome and a conotruncal defect. Infants with tetralogy of Fallot owing to 22q11 microdeletion showed more associated vascular anomalies than infants with tetralogy without a 22q11 microdeletion. Although these associated vascular anomalies provide clues as to which infants with tetralogy of Fallot are more likely to carry the microdeletion, the overall risk of 10% among infants with tetralogy of Fallot warrants chromosome analysis and fluorescent in situ hybridization (FISH) testing routinely, which may be supplanted by genome‐wide copy number testing as it becomes more widely utilized. Birth Defects Research (Part A), 2009. © 2008 Wiley‐Liss, Inc." @default.
• W2033545963 created "2016-06-24" @default.
• W2033545963 creator A5002873786 @default.
• W2033545963 creator A5003468273 @default.
• W2033545963 creator A5014337265 @default.
• W2033545963 creator A5031744510 @default.
• W2033545963 creator A5033044395 @default.
• W2033545963 creator A5066231280 @default.
• W2033545963 creator A5090333556 @default.
• W2033545963 creator A5090894060 @default.
• W2033545963 date "2008-12-09" @default.
• W2033545963 modified "2023-10-16" @default.
• W2033545963 title "Chromosomal abnormalities among children born with conotruncal cardiac defects" @default.
• W2033545963 cites W1964976079 @default.
• W2033545963 cites W1970216315 @default.
• W2033545963 cites W1972292632 @default.
• W2033545963 cites W1974135004 @default.
• W2033545963 cites W1986417464 @default.
• W2033545963 cites W1992914659 @default.
• W2033545963 cites W1998950161 @default.
• W2033545963 cites W2001217125 @default.
• W2033545963 cites W2012517517 @default.
• W2033545963 cites W2012535972 @default.
• W2033545963 cites W2020117837 @default.
• W2033545963 cites W2023650084 @default.
• W2033545963 cites W2030783212 @default.
• W2033545963 cites W2038884679 @default.
• W2033545963 cites W2047455586 @default.
• W2033545963 cites W2060674493 @default.
• W2033545963 cites W2061690865 @default.
• W2033545963 cites W2066996651 @default.
• W2033545963 cites W2069063448 @default.
• W2033545963 cites W2087538149 @default.
• W2033545963 cites W2088123750 @default.
• W2033545963 cites W2091232465 @default.
• W2033545963 cites W2097066119 @default.
• W2033545963 cites W2097170562 @default.
• W2033545963 cites W2112673117 @default.
• W2033545963 cites W2114381641 @default.
• W2033545963 cites W2117736258 @default.
• W2033545963 cites W2120777302 @default.
• W2033545963 cites W2128923688 @default.
• W2033545963 cites W2137055477 @default.
• W2033545963 cites W2156398172 @default.
• W2033545963 cites W2617245041 @default.
• W2033545963 doi "https://doi.org/10.1002/bdra.20541" @default.
• W2033545963 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2856481" @default.
• W2033545963 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19067405" @default.
• W2033545963 hasPublicationYear "2008" @default.
• W2033545963 type Work @default.
• W2033545963 sameAs 2033545963 @default.
• W2033545963 citedByCount "56" @default.
• W2033545963 countsByYear W20335459632012 @default.
• W2033545963 countsByYear W20335459632013 @default.
• W2033545963 countsByYear W20335459632014 @default.
• W2033545963 countsByYear W20335459632015 @default.
• W2033545963 countsByYear W20335459632016 @default.
• W2033545963 countsByYear W20335459632017 @default.
• W2033545963 countsByYear W20335459632018 @default.
• W2033545963 countsByYear W20335459632019 @default.
• W2033545963 countsByYear W20335459632020 @default.
• W2033545963 countsByYear W20335459632021 @default.
• W2033545963 countsByYear W20335459632023 @default.
• W2033545963 crossrefType "journal-article" @default.
• W2033545963 hasAuthorship W2033545963A5002873786 @default.
• W2033545963 hasAuthorship W2033545963A5003468273 @default.
• W2033545963 hasAuthorship W2033545963A5014337265 @default.
• W2033545963 hasAuthorship W2033545963A5031744510 @default.
• W2033545963 hasAuthorship W2033545963A5033044395 @default.
• W2033545963 hasAuthorship W2033545963A5066231280 @default.
• W2033545963 hasAuthorship W2033545963A5090333556 @default.
• W2033545963 hasAuthorship W2033545963A5090894060 @default.
• W2033545963 hasBestOaLocation W20335459632 @default.
• W2033545963 hasConcept C126322002 @default.
• W2033545963 hasConcept C164705383 @default.
• W2033545963 hasConcept C2776064143 @default.
• W2033545963 hasConcept C2778427304 @default.
• W2033545963 hasConcept C2778646171 @default.
• W2033545963 hasConcept C2779980429 @default.
• W2033545963 hasConcept C2780074459 @default.
• W2033545963 hasConcept C2781285907 @default.
• W2033545963 hasConcept C71924100 @default.
• W2033545963 hasConceptScore W2033545963C126322002 @default.
• W2033545963 hasConceptScore W2033545963C164705383 @default.
• W2033545963 hasConceptScore W2033545963C2776064143 @default.
• W2033545963 hasConceptScore W2033545963C2778427304 @default.
• W2033545963 hasConceptScore W2033545963C2778646171 @default.
• W2033545963 hasConceptScore W2033545963C2779980429 @default.
• W2033545963 hasConceptScore W2033545963C2780074459 @default.
• W2033545963 hasConceptScore W2033545963C2781285907 @default.
• W2033545963 hasConceptScore W2033545963C71924100 @default.
• W2033545963 hasIssue "1" @default.
• W2033545963 hasLocation W20335459631 @default.
• W2033545963 hasLocation W20335459632 @default.
• W2033545963 hasLocation W20335459633 @default.
• W2033545963 hasLocation W20335459634 @default.
• W2033545963 hasOpenAccess W2033545963 @default.
• W2033545963 hasPrimaryLocation W20335459631 @default.

• next