(Q37432642)

English

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

scientific article published on 25 August 2013

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scholarly article

1 reference

Europe PubMed Central

20 August 2017

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease (English)

1 reference

Europe PubMed Central

20 August 2017

congenital disorder

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congenital heart disease

1 reference

based on heuristic

inferred from title

Michael Ronemus

object named as

Michael Ronemus

2

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Kwame Anyane-Yeboa

object named as

Kwame Anyane-Yeboa

6

0 references

object named as

Michael Wigler

16

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Dorothy Warburton

1

object named as

Dorothy Warburton

1 reference

Europe PubMed Central

20 August 2017

12

object named as

Anthony Leotta

1 reference

Europe PubMed Central

20 August 2017

13

object named as

Jude Kendall

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Europe PubMed Central

20 August 2017

author name string

Jennie Kline

3

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Europe PubMed Central

20 August 2017

Vaidehi Jobanputra

4

1 reference

Europe PubMed Central

20 August 2017

Ismee Williams

5

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Europe PubMed Central

20 August 2017

Wendy Chung

7

1 reference

Europe PubMed Central

20 August 2017

Lan Yu

8

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Europe PubMed Central

20 August 2017

Nancy Wong

9

1 reference

Europe PubMed Central

20 August 2017

Danielle Awad

10

1 reference

Europe PubMed Central

20 August 2017

Chih-Yu Yu

11

1 reference

Europe PubMed Central

20 August 2017

Boris Yamrom

14

1 reference

Europe PubMed Central

20 August 2017

Yoon-Ha Lee

15

1 reference

Europe PubMed Central

20 August 2017

Dan Levy

17

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Europe PubMed Central

20 August 2017

publication date

25 August 2013

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Europe PubMed Central

20 August 2017

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Europe PubMed Central

20 August 2017

133

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Europe PubMed Central

20 August 2017

1

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Europe PubMed Central

20 August 2017

11-27

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Europe PubMed Central

20 August 2017

https://scigraph.springernature.com/pub.10.1007/s00439-013-1353-9

0 references

Rare copy number variants contribute to congenital left-sided heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Reducing system noise in copy number data using principal components of self-self hybridizations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

A copy number variation morbidity map of developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

GATA4 sequence variants in patients with congenital heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Cardiac outflow tract: a review of some embryogenetic aspects of the conotruncal region of the heart

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Detection of large-scale variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Large-scale copy number polymorphism in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

NKX2.5 mutations in patients with tetralogy of fallot

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

2 September 2018

Epidemiology of cardiovascular malformations: prevalence and risk factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

23 August 2017

Application of a modified real-time PCR technique for relative gene copy number quantification to the determination of the relationship between NKX3.1 loss and MYC gain in prostate cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

14 September 2017

A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

26 June 2018

Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

2 September 2018

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

2 September 2018

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

2 September 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

2 September 2018

Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

2 September 2018

Associations between chromosomal anomalies and congenital heart defects: a database search.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3880624

2 September 2018

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1353-9

21 January 2018

High Incidence of Cardiac Malformations in Connexin40-Deficient Mice

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1353-9

21 January 2018

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/23979609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel genomic alterations and clonal evolution in chronic lymphocytic leukemia revealed by representational oligonucleotide microarray analysis (ROMA)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23979609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-013-1353-9

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

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