Array CGH as a first-tier test for neonates with congenital heart disease (Q38160092)

30 August 2017

Array CGH as a first-tier test for neonates with congenital heart disease (English)

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Constantinos Chrysostomou

30 August 2017

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object named as

Constantinos Chrysostomou

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30 August 2017

Kristine K Bachman

1

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30 August 2017

Stephanie J DeWard

2

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30 August 2017

Ricardo Munoz

4

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30 August 2017

Suneeta Madan-Khetarpal

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30 August 2017

6 November 2013

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30 August 2017

Cardiology in the Young

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30 August 2017

25

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30 August 2017

1

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30 August 2017

115-122

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

30 August 2017

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https://api.crossref.org/works/10.1017%2FS1047951113001868

Chromosomal microarray versus karyotyping for prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Critical congenital heart disease--utility of routine screening for chromosomal and other extracardiac malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

DiGeorge syndrome: part of CATCH 22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Karyotype versus microarray testing for genetic abnormalities after stillbirth

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Genetics of congenital heart disease: the glass half empty

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Incidence of congenital heart disease: I. Postnatal incidence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Technical report: Ethical and policy issues in genetic testing and screening of children

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

Interstitial deletion of 3p22.2-p24.2: the first reported case

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

7 January 2021

Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

7 January 2021

Detection of large-scale variation in the human genome

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

7 January 2021

A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation

1 reference

https://api.crossref.org/works/10.1017%2FS1047951113001868

7 January 2021

10.1017/S1047951113001868

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DOI

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30 August 2017

1 reference