(Q37932929)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21921585%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

review article

1 reference

title

Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects (English)

1 reference

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12 February 2020

0 references

2

1 reference

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12 February 2020

Léon-Charles Tranchevent

4

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12 February 2020

author name string

J Breckpot

1

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12 February 2020

Y Arens

3

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12 February 2020

J R Vermeesch

5

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12 February 2020

Y Moreau

6

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12 February 2020

M Gewillig

7

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12 February 2020

K Devriendt

8

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12 February 2020

publication date

13 September 2011

1 reference

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Cytogenetics and Genome Research

12 February 2020

published in

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12 February 2020

volume

135

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12 February 2020

issue

3-4

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12 February 2020

page(s)

251-259

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Collaboratively charting the gene-to-phenotype network of human congenital heart defects

12 February 2020

cites work

1 reference

Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms

21 January 2018

1 reference

Detection of clinically relevant exonic copy-number changes by array CGH.

21 January 2018

1 reference

A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.

21 January 2018

1 reference

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

21 January 2018

1 reference

The developmental genetics of congenital heart disease.

21 January 2018

1 reference

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

21 January 2018

1 reference

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.

21 January 2018

1 reference

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

21 January 2018

1 reference

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

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

21 January 2018

1 reference

Mutations in NOTCH1 cause aortic valve disease

21 January 2018

1 reference

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

21 January 2018

1 reference

A newborn with unusual morphology: some practical aspects

21 January 2018

1 reference

De novo rates and selection of large copy number variation

21 January 2018

1 reference

Genotype, haplotype and copy-number variation in worldwide human populations

21 January 2018

1 reference

Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.

21 January 2018

1 reference

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

21 January 2018

1 reference

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

21 January 2018

1 reference

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

21 January 2018

1 reference

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

21 January 2018

1 reference

Finding the missing heritability of complex diseases

21 January 2018

1 reference

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

21 January 2018

1 reference

Microduplication 22q11.2: a new chromosomal syndrome

21 January 2018

1 reference

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

21 January 2018

1 reference

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

Large recurrent microdeletions associated with schizophrenia

21 January 2018

1 reference

The del22q11.2 candidate gene Tbx1 controls regional outflow tract identity and coronary artery patterning

21 January 2018

1 reference

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

21 January 2018

1 reference

Partial duplications of the ATRX gene cause the ATR-X syndrome.

21 January 2018

1 reference

Haploinsufficiency of TAB2 causes congenital heart defects in humans

21 January 2018

1 reference

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

1 reference

Genetic factors in non-syndromic congenital heart malformations

21 January 2018

1 reference

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting.

21 January 2018

1 reference

Role of TBX1 in human del22q11.2 syndrome

21 January 2018

1 reference

Microduplication and triplication of 22q11.2: a highly variable syndrome

21 January 2018

1 reference

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

21 January 2018

1 reference

High Incidence of Cardiac Malformations in Connexin40-Deficient Mice

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1159/000331272

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21921585%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference