(Q36072998)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

main subject

congenital disorder

0 references

congenital heart disease

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1

Elizabeth Goldmuntz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

4

Hakon Hakonarson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

8

Tamim H Shaikh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

7

Xiaowu Gai

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

5

Jaclyn A Biegel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

author name string

Prasuna Paluru

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Peter S White

series ordinal

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

publication date

20 October 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

published in

Congenital Heart Disease

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

page(s)

592-602

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

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

14 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Large recurrent microdeletions associated with schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Rare chromosomal deletions and duplications increase risk of schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Strong association of de novo copy number mutations with sporadic schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Mapping and sequencing of structural variation from eight human genomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Neuropilins: structure, function and role in disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

The fine-scale and complex architecture of human copy-number variation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Detailed analysis of 22q11.2 with a high density MLPA probe set

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Strong association of de novo copy number mutations with autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Global variation in copy number in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Structural variants: changing the landscape of chromosomes and design of disease studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Segmental duplications and copy-number variation in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Whole genome DNA copy number changes identified by high density oligonucleotide arrays

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

The Hand1 and Hand2 transcription factors regulate expansion of the embryonic cardiac ventricles in a gene dosage-dependent manner

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Circular binary segmentation for the analysis of array-based DNA copy number data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Detection of large-scale variation in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Large-scale copy number polymorphism in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Essential roles of Meltrin beta (ADAM19) in heart development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Essential role for ADAM19 in cardiovascular morphogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Recent segmental duplications in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Segmental duplications: an 'expanding' role in genomic instability and disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Mesp1 expression is the earliest sign of cardiovascular development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

MesP1 is expressed in the heart precursor cells and required for the formation of a single heart tube

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

HAND proteins: molecular mediators of cardiac development and congenital heart disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

The bHLH factors, dHAND and eHAND, specify pulmonary and systemic cardiac ventricles independent of left-right sidedness

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Identification of an essential nonneuronal function of neurotrophin 3 in mammalian cardiac development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

A subclass of bHLH proteins required for cardiac morphogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

A requirement for neuropilin-1 in embryonic vessel formation.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4575121

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1747-0803.2011.00582.X

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

21 January 2018

1 reference

12 December 2020

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification

1 reference

12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

12 December 2020

Coil embolization to occlude aortopulmonary collateral vessels and shunts in patients with congenital heart disease

1 reference

12 December 2020

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays

1 reference

12 December 2020

10.1111/J.1747-0803.2011.00582.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22010865%20AND%20SRC:MED&resulttype=core&format=json