(Q57828161)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22349727%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22349727%20AND%20SRC:MED&resulttype=core&format=json

hypoplastic left heart syndrome

23 January 2020

main subject

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22349727%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Andrew R. Zinn

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22349727%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Vidu Garg

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22349727%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

author name string

Sheng-Wei Chang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22349727%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Ashleigh R Payne

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22349727%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

publication date

21 February 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22349727%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22349727%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22349727%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22349727%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

page(s)

757-763

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22349727%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00246-012-0208-9

23 January 2020

exact match

0 references

cites work

Hypoplastic left heart syndrome

2 references

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

21 January 2018

12 December 2020

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Hypoplastic left heart syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

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/10.1007%2FS00246-012-0208-9

Mutations in NOTCH1 cause aortic valve disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

The genetics of hypoplastic left heart syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Hypoplastic left heart syndrome is heritable

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

The incidence of congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Genetics in zebrafish, mice, and humans to dissect congenital heart disease: insights in the role of VEGF.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Heredity of bicuspid aortic valve: is family screening indicated?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

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/10.1007%2FS00246-012-0208-9

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Global variation in copy number in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Genetics of congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

VEGF signaling has distinct spatiotemporal roles during heart valve development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

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/10.1007%2FS00246-012-0208-9

A faster circular binary segmentation algorithm for the analysis of array CGH data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

The causality of de novo copy number variants is overestimated

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-012-0208-9

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

21 January 2018

1 reference

PubMed

12 December 2020

Recurrence of Congenital Heart Defects in Families

1 reference

PubMed

12 December 2020

Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome

1 reference

PubMed

12 December 2020

10.1007/S00246-012-0208-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22349727%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference