Investigation of copy number variation in children with conotruncal heart defects
Arquivos Brasileiros de Cardiologia2014Vol. 104(1), pp. 24–31
Citations Over TimeTop 21% of 2014 papers
Carla Marques Rondon Campos, Évelin Aline Zanardo, Roberta Lelis Dutra, Leslie Domenici Kulikowski, Chong Ae Kim
Abstract
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.
Related Papers
- → Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions(2008)23 cited
- → A Child With Mild X-Linked Intellectual Disability and a Microduplication at Xp22.12 Including RPS6KA3(2011)17 cited
- Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions(2008)
- → [Systematic genetic analysis for a case with duplication 9p].(2015)
- → [Analysis of a patient with severe Hemophilia A due to a large duplication of F8 gene].(2022)