Matches in SemOpenAlex for { <https://semopenalex.org/work/W2343168034> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W2343168034 abstract "Background: Congenital heart defects (CHD) are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations. Objectives: Investigate gene copy number variation (CNV) in children with conotruncal heart defect. Methods: Multiplex ligation-dependent probe amplification (MLPA) was performed in 39 patients with conotruncal heart defect. Clinical and laboratory assessments were conducted in all patients. The parents of the probands who presented abnormal findings were also investigated. Results: Gene copy number variation was detected in 7/39 patients: 22q11.2 deletion, 22q11.2 duplication, 15q11.2 duplication, 20p12.2 duplication, 19p deletion, 15q and 8p23.2 duplication with 10p12.31 duplication. The clinical characteristics were consistent with those reported in the literature associated with the encountered microdeletion/microduplication. None of these changes was inherited from the parents. Conclusions: Our results demonstrate that the technique of MLPA is useful in the investigation of microdeletions and microduplications in conotruncal congenital heart defects. Early diagnosis of the copy number variation in patients with congenital heart defect assists in the prevention of morbidity and decreased mortality in these patients. (Arq Bras Cardiol. 2014; [online].ahead print, PP.0-0)" @default.
- W2343168034 created "2016-06-24" @default.
- W2343168034 creator A5007352046 @default.
- W2343168034 creator A5031642502 @default.
- W2343168034 creator A5042240399 @default.
- W2343168034 creator A5042449072 @default.
- W2343168034 creator A5053652605 @default.
- W2343168034 creator A5054362433 @default.
- W2343168034 creator A5090458063 @default.
- W2343168034 date "2014-01-01" @default.
- W2343168034 modified "2023-09-29" @default.
- W2343168034 title "Investigação da Variação no Número de Cópias Gênicas em Crianças com Defeito Cardíaco Conotruncal Investigation of Copy Number Variation in Children with Conotruncal Heart Defects" @default.
- W2343168034 cites W1486339543 @default.
- W2343168034 cites W1970319316 @default.
- W2343168034 cites W1998212662 @default.
- W2343168034 cites W2008034420 @default.
- W2343168034 cites W2012517517 @default.
- W2343168034 cites W2020117837 @default.
- W2343168034 cites W2025207473 @default.
- W2343168034 cites W2035101613 @default.
- W2343168034 cites W2044137549 @default.
- W2343168034 cites W2047455586 @default.
- W2343168034 cites W2056973499 @default.
- W2343168034 cites W2058262912 @default.
- W2343168034 cites W2065719208 @default.
- W2343168034 cites W2071116898 @default.
- W2343168034 cites W2076426906 @default.
- W2343168034 cites W2076479322 @default.
- W2343168034 cites W2079531131 @default.
- W2343168034 cites W2084775350 @default.
- W2343168034 cites W2104545292 @default.
- W2343168034 cites W2106650442 @default.
- W2343168034 cites W2110488020 @default.
- W2343168034 cites W2126662039 @default.
- W2343168034 cites W2130639247 @default.
- W2343168034 cites W2144459152 @default.
- W2343168034 cites W2170417219 @default.
- W2343168034 hasPublicationYear "2014" @default.
- W2343168034 type Work @default.
- W2343168034 sameAs 2343168034 @default.
- W2343168034 citedByCount "0" @default.
- W2343168034 crossrefType "journal-article" @default.
- W2343168034 hasAuthorship W2343168034A5007352046 @default.
- W2343168034 hasAuthorship W2343168034A5031642502 @default.
- W2343168034 hasAuthorship W2343168034A5042240399 @default.
- W2343168034 hasAuthorship W2343168034A5042449072 @default.
- W2343168034 hasAuthorship W2343168034A5053652605 @default.
- W2343168034 hasAuthorship W2343168034A5054362433 @default.
- W2343168034 hasAuthorship W2343168034A5090458063 @default.
- W2343168034 hasConcept C104317684 @default.
- W2343168034 hasConcept C120599132 @default.
- W2343168034 hasConcept C120821319 @default.
- W2343168034 hasConcept C141231307 @default.
- W2343168034 hasConcept C164705383 @default.
- W2343168034 hasConcept C187212893 @default.
- W2343168034 hasConcept C2780074459 @default.
- W2343168034 hasConcept C2994486495 @default.
- W2343168034 hasConcept C36823959 @default.
- W2343168034 hasConcept C54355233 @default.
- W2343168034 hasConcept C71924100 @default.
- W2343168034 hasConcept C7602840 @default.
- W2343168034 hasConcept C86803240 @default.
- W2343168034 hasConceptScore W2343168034C104317684 @default.
- W2343168034 hasConceptScore W2343168034C120599132 @default.
- W2343168034 hasConceptScore W2343168034C120821319 @default.
- W2343168034 hasConceptScore W2343168034C141231307 @default.
- W2343168034 hasConceptScore W2343168034C164705383 @default.
- W2343168034 hasConceptScore W2343168034C187212893 @default.
- W2343168034 hasConceptScore W2343168034C2780074459 @default.
- W2343168034 hasConceptScore W2343168034C2994486495 @default.
- W2343168034 hasConceptScore W2343168034C36823959 @default.
- W2343168034 hasConceptScore W2343168034C54355233 @default.
- W2343168034 hasConceptScore W2343168034C71924100 @default.
- W2343168034 hasConceptScore W2343168034C7602840 @default.
- W2343168034 hasConceptScore W2343168034C86803240 @default.
- W2343168034 hasLocation W23431680341 @default.
- W2343168034 hasOpenAccess W2343168034 @default.
- W2343168034 hasPrimaryLocation W23431680341 @default.
- W2343168034 isParatext "false" @default.
- W2343168034 isRetracted "false" @default.
- W2343168034 magId "2343168034" @default.
- W2343168034 workType "article" @default.