(Q33610170)

28 July 2017

Rare de novo copy number variants in patients with congenital pulmonary atresia (English)

1 reference

28 July 2017

0 references

1 reference

Li Xie

1

1 reference

28 July 2017

Jin-Lan Chen

2

1 reference

28 July 2017

Wei-Zhi Zhang

3

1 reference

28 July 2017

Shou-Zheng Wang

4

1 reference

28 July 2017

Tian-Li Zhao

5

1 reference

28 July 2017

Can Huang

6

1 reference

28 July 2017

Jian Wang

7

1 reference

28 July 2017

Jin-Fu Yang

8

1 reference

28 July 2017

Yi-Feng Yang

9

1 reference

28 July 2017

Zhi-Ping Tan

10

1 reference

28 July 2017

language of work or name

English

0 references

publication date

14 May 2014

1 reference

28 July 2017

1 reference

28 July 2017

9

1 reference

28 July 2017

5

1 reference

28 July 2017

e96471

1 reference

Creative Commons Attribution 4.0 International

28 July 2017

start time

14 May 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with Tetralogy of Fallot

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Recent advances in understanding the genetics of congenital heart defects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Chromosomal copy number variation, selection and uneven rates of recombination reveal cryptic genome diversity linked to pathogenicity.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Of mice and men: molecular genetics of congenital heart disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Genetics of congenital heart disease: the glass half empty

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Disruption of the folate pathway in zebrafish causes developmental defects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Exome analysis of a family with pleiotropic congenital heart disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Trafficking of intracellular folates

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

A copy number variation morbidity map of developmental delay

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Compartmentalization of Mammalian folate-mediated one-carbon metabolism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Variants of folate metabolism genes and the risk of conotruncal cardiac defects.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Megalin and cubilin in the human gallbladder epithelium.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Genetic mechanisms controlling cardiovascular development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Independent factors associated with mortality, reintervention, and achievement of complete repair in children with pulmonary atresia with ventricular septal defect

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

The incidence of congenital heart disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Folate, vitamin B12 and homocysteine in relation to birth defects and pregnancy outcome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Cubilin, a multifunctional epithelial receptor: an overview.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Natural and unnatural history of pulmonary atresia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096471

VANGL2 mutations in human cranial neural-tube defects

21 January 2018

2 references

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096471

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4020819

Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation

30 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096471

Developmental consequences of abnormal folate transport during murine heart morphogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096471

Dihydrofolate reductase is required for the development of heart and outflow tract in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096471

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096471

Homocysteine predicts increased NT-pro-BNP through impaired fatty acid oxidation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096471

Familial ventricular aneurysms and septal defects map to chromosome 10p15

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096471

Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24826987

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0096471

1 reference

28 July 2017

0 references

1 reference

28 July 2017

1 reference