Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test-Reference-Cited by-同舟云学术

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Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test

Published:2017 Issue:5 Volume:8 Page:227-235
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Monteiro Rejane A.C.,de Freitas Mariana L.,Vianna Gabrielle S.,de Oliveira Valdirene T.,Pietra Rafaella X.,Ferreira Luana C.A.,Rocha Patrícia P.O.,da S. Gonçalves Michele,da C. César Giovana,de S. Lima Joziele,Medeiros Paula F.V.,Mazzeu Juliana F.,Jehee Fernanda S.

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Conotruncal Heart Defects: A Narrative Review of Molecular Genetics, Genomics Research and Innovation;OMICS: A Journal of Integrative Biology;2024-07-01

2. A Pilot Study of Multiplex Ligation-Dependent Probe Amplification Evaluation of Copy Number Variations in Romanian Children with Congenital Heart Defects;Genes;2024-02-05

3. The use of high-resolution SNP arrays to detect congenital cardiac defects;The Journal of Maternal-Fetal & Neonatal Medicine;2024-01-02

4. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return;European Journal of Human Genetics;2023-09-07

5. A review of 22q11.2 microdeletion syndrome: clinical and diagnostic perspective;The Journal of Medical Laboratory Science and Technology of South Africa;2023-05

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