(Q57807080)

English

Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients

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scholarly article

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Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients (English)

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congenital heart disease

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based on heuristic

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Paal S Andersen

object named as

Paal Skytt Andersen

15

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Vibeke E. Hjortdal

object named as

Vibeke Hjortdal

8

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object named as

Niels Tommerup

14

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11

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Thomas Werge

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author name string

Karina Meden Sørensen

1

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Milad El-Segaier

2

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Eva Fernlund

3

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Ab Errami

4

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Patrice Bouvagnet

5

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Nancy Nehme

6

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Jesper Steensberg

7

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Maria Soller

9

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Mohaddeseh Behjati

10

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Maria Kirchoff

12

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Jan Schouten

13

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Lars Allan Larsen

16

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language of work or name

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publication date

1 March 2012

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American Journal of Medical Genetics

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158A

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4

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720-725

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Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature

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https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

Rare chromosomal deletions and duplications increase risk of schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

Population analysis of large copy number variants and hotspots of human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

Do neonates with genetic abnormalities have an increased morbidity and mortality following cardiac surgery?

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

Large recurrent microdeletions associated with schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35214

21 January 2018

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10.1002/AJMG.A.35214

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