Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome (Q36041812)

11 August 2017

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

1 reference

11 August 2017

0 references

1 reference

Adam E Locke

1

0 references

Clifford L. Cua

Clifford L Cua

9

0 references

Michael C Wu

Michael C Wu

11

0 references

Eleanor Feingold

Eleanor Feingold

5

0 references

Xihong Lin

12

Xihong Lin

1 reference

11 August 2017

Kenneth J Dooley

2

1 reference

11 August 2017

Stuart W Tinker

3

1 reference

11 August 2017

Soo Yeon Cheong

4

1 reference

11 August 2017

Emily G Allen

6

1 reference

11 August 2017

Sallie B Freeman

7

1 reference

11 August 2017

Claudine P Torfs

8

1 reference

11 August 2017

Michael P Epstein

10

1 reference

11 August 2017

George Capone

13

1 reference

11 August 2017

Stephanie L Sherman

14

1 reference

11 August 2017

Lora J H Bean

15

1 reference

11 August 2017

1 September 2010

1 reference

11 August 2017

1 reference

11 August 2017

34

1 reference

11 August 2017

6

1 reference

11 August 2017

613-623

1 reference

Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Folate metabolism and the risk of Down 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=3378053

Smarter clustering methods for SNP genotype calling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Estimation and testing for the effect of a genetic pathway on a disease outcome using logistic kernel machine regression via logistic mixed models

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

The prevalence of folate-remedial MTHFR enzyme variants in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

A powerful and flexible multilocus association test for quantitative traits

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Importance of folate-homocysteine homeostasis during early embryonic 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=3378053

The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

The National Down Syndrome Project: design and implementation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Genetic variation in genes of folate metabolism and neural-tube defect risk

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

A haplotype map of 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=3378053

Homocysteine, folate, and congenital heart defects

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Abnormal folate metabolism in mothers with Down syndrome offspring: review of the literature

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Folic acid supplementation and the occurrence of congenital heart defects, orofacial clefts, multiple births, and miscarriage

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Haploview: analysis and visualization of LD and haplotype maps

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control 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=3378053

Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Homocysteine metabolism in children with Down syndrome: in vitro modulation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Genomic control for association 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=3378053

dbSNP: the NCBI database of genetic 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=3378053

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Implementing a unified approach to family-based tests of association.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Two MTHFR polymorphisms, maternal B-vitamin intake, and CHDs

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

A trisomic transmission disequilibrium test

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defects

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Plasma folate levels and risk of spontaneous abortion

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

The family based association test method: strategies for studying general genotype--phenotype associations.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Population-based study of congenital heart defects in Down syndrome.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378053

Cystathionine beta synthase: gene dosage effect in trisomy 21

5 December 2018

1 reference

12 December 2020

Is absence of atheroma in Down syndrome due to decreased homocysteine levels?

1 reference

12 December 2020

Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects

1 reference

12 December 2020

Study of Down syndrome in 238,942 consecutive births

1 reference

12 December 2020

Maternal folate deficiency affects proliferation, but not apoptosis, in embryonic mouse heart

1 reference

12 December 2020

A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia

1 reference

12 December 2020

Identifiers

DOI

10.1002/GEPI.20518

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

20718043

1 reference