(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

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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

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11 August 2017

1 September 2010

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11 August 2017

1 reference

11 August 2017

34

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11 August 2017

6

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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