(Q33572905)

28 July 2017

Genome-wide association study of maternal and inherited loci for conotruncal heart defects (English)

1 reference

genome-wide association study

28 July 2017

0 references

6

Hakon Hakonarson

1 reference

28 July 2017

7

Elizabeth Goldmuntz

1 reference

28 July 2017

Joseph Glessner

3

1 reference

ORCID Public Data File 2021

Laura E Mitchell

series ordinal

2

object named as

Laura E Mitchell

1 reference

28 July 2017

4

Angela D Bhalla

1 reference

28 July 2017

5

Anshuman Sewda

1 reference

28 July 2017

A J Agopian

1

1 reference

PubMed ID

24800985

28 July 2017

language of work or name

English

0 references

publication date

6 May 2014

1 reference

28 July 2017

1 reference

28 July 2017

9

1 reference

28 July 2017

5

1 reference

28 July 2017

e96057

1 reference

Creative Commons Attribution 4.0 International

28 July 2017

start time

6 May 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

genome-wide association study

1 reference

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

inferred from title

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Genome-wide association study identifies loci on 12q24 and 13q32 associated with 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=4011736

The UCSC Genome Browser database: extensions and updates 2013.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Exploration of gene-environment interactions, maternal effects and parent of origin effects in the etiology of hypospadias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Evaluation of heterogeneity in the association between congenital heart defects and variants of folate metabolism genes: conotruncal and left-sided 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=4011736

MI-GWAS: a SAS platform for the analysis of inherited and maternal genetic effects in genome-wide association studies using log-linear models

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

NAT1, NOS3, and TYMS genotypes 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=4011736

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Maternal folate-related gene environment interactions and 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=4011736

21 June 2018

The kindlins at a glance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

A method and server for predicting damaging missense mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal 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=4011736

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=4011736

Detection of nonneutral substitution rates on mammalian phylogenies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

The role of secondary heart field in cardiac 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=4011736

Variants of folate metabolism genes and risk of left-sided 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=4011736

Molecular mechanism of inward rectifier potassium channel 2.3 regulation by tax-interacting protein-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=4011736

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

118 SNPs of folate-related genes and risks of spina bifida and conotruncal 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=4011736

Establishing an adjusted p-value threshold to control the family-wide type 1 error in genome wide association studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Identification of six putative human transporters with structural similarity to the drug transporter SLC22 family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Comparing the clinical and economic effects of clinical examination, pulse oximetry, and echocardiography in newborn screening for congenital heart defects: a probabilistic cost-effectiveness model and value of information analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Genetic background of congenital conotruncal heart defects--a study of 45 families.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

A gene atlas of the mouse and human protein-encoding transcriptomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

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=4011736

Allowing for missing parents in genetic studies of case-parent triads

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Primary structure and characterization of a small-conductance inwardly rectifying potassium channel from human hippocampus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Genetic epidemiology of congenital heart diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

The inheritance of conotruncal malformations: a review and report of two siblings with tetralogy of Fallot with 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=4011736

Annual summary of vital statistics--2003.

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096057

A common ABCC2 promoter polymorphism is not a determinant of the risk of spina bifida

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096057

Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096057

Evidence for a role of Smad6 in chick cardiac development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096057

Distinguishing the Effects of Maternal and Offspring Genes through Studies of "Case-Parent Triads"

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096057

New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

[FHIT--tumor suppressor protein involved in induction of apoptosis and cell cycle regulation].

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011736

Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching

10 December 2018

1 reference

12 December 2020

Conotruncal myocardium arises from a secondary heart field

1 reference

12 December 2020

Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies

1 reference

12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

12 December 2020

Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes

1 reference

12 December 2020

Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies

1 reference

12 December 2020

Recurrence of Congenital Heart Defects in Families

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0096057

Identifiers

DOI

1 reference

28 July 2017

0 references

1 reference

28 July 2017

1 reference

PubMed ID

24800985