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

scientific article published on 14 June 2017

Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1159/000477226
P932PMC publication ID5582521
P698PubMed publication ID28878606

P2093author name stringFernanda S Jehee
Mariana L de Freitas
Juliana F Mazzeu
Rejane A C Monteiro
Joziele de S Lima
Paula F V Medeiros
Gabrielle S Vianna
Giovana da C César
Luana C A Ferreira
Michele da S Gonçalves
Patrícia P O Rocha
Rafaella X Pietra
Valdirene T de Oliveira
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Rapid detection of aneuploidy and unbalanced chromosomal rearrangements by subtelomeric multiplex ligation-dependent probe amplification in fetuses with congenital heart disease.Q54255025
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.Q54531000
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.Q55166864
The ring 14 syndrome: Clinical and molecular definitionQ55982585
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Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patientsQ57807080
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Child with multiple congenital anomalies and mosaicism 46, XX/46,XX, del (14)(q32.3)Q67986222
P433issue5
P921main subjectcongenital heart diseaseQ939364
P304page(s)227-235
P577publication date2017-06-14
P1433published inMolecular syndromologyQ26842514
P1476titleMajor Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test
P478volume8

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cites work (P2860)
Q58761954A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
Q88101846Beyond Gene Panels: Whole Exome Sequencing for Diagnosis of Congenital Heart Disease

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