Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population (Q57677550)

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English	Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population	article

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scholarly article

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18 January 2020

Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population (English)

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18 January 2020

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18 January 2020

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18 January 2020

Valerie B O'Leary

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18 January 2020

author name string

Anne Parle-McDermott

1

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18 January 2020

Peadar N Kirke

2

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18 January 2020

Christopher Cox

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18 January 2020

Faith Pangilinan

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18 January 2020

Mary Conley

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18 January 2020

Laura Cleary

9

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18 January 2020

Lawrence C Brody

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18 January 2020

John M Scott

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18 January 2020

publication date

1 June 2006

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18 January 2020

European Journal of Human Genetics

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18 January 2020

14

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18 January 2020

768-772

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18 January 2020

6

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18 January 2020

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201603

0 references

The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201603

21 January 2018

A Polymorphism, R653Q, in the Trifunctional Enzyme Methylenetetrahydrofolate Dehydrogenase/Methenyltetrahydrofolate Cyclohydrolase/Formyltetrahydrofolate Synthetase Is a Maternal Genetic Risk Factor for Neural Tube Defects

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201603

21 January 2018

5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201603

21 January 2018

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201603

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201603

21 January 2018

MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201603

21 January 2018

A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201603

21 January 2018

Common mutations at the homocysteine metabolism pathway and pediatric stroke

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201603

21 January 2018

Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFC1, and GCP2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201603

21 January 2018

Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201603

7 January 2021

based on heuristic

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Maternal nutrition and fetal development

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201603

7 January 2021

based on heuristic

inferred from DOI database lookup

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