(Q46341725)

21 December 2017

title

Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects (English)

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21 December 2017

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21 December 2017

Valerie B O'Leary

object named as

Valerie B O'Leary

4

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Anne M. Molloy

object named as

Anne M Molloy

8

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Andrea M Weiler

7

object named as

Andrea Weiler

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21 December 2017

Anne Parle-McDermott

1

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21 December 2017

Edward J McManus

2

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21 December 2017

Faith Pangilinan

5

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21 December 2017

Christopher Cox

6

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21 December 2017

Mary Conley

9

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21 December 2017

Deborah Watson

10

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21 December 2017

John M Scott

11

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21 December 2017

Lawrence C Brody

12

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21 December 2017

Peadar N Kirke

13

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21 December 2017

Birth Defects Research Group

14

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21 December 2017

publication date

1 December 2003

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21 December 2017

Molecular Genetics and Metabolism

published in

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21 December 2017

volume

80

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21 December 2017

issue

4

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21 December 2017

page(s)

463-468

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21 December 2017

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

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Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

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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.

7 January 2021

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A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

7 January 2021

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Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

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

7 January 2021

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Prevention of the First Occurrence of Neural-Tube Defects by Periconceptional Vitamin Supplementation

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Nutrient Levels in Amniotic Fluid from Women with Normal and Neural Tube Defect Pregnancies

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Folate and vitamin B12 concentrations in maternal and fetal blood, and amniotic fluid in second trimester pregnancies complicated by neural tube defects

7 January 2021

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A case-control study of maternal nutrition and neural tube defects in Northern Ireland

7 January 2021

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Neural-tube defects are associated with low concentrations of cobalamin (vitamin B12) in amniotic fluid

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Amniotic fluid B12, calcium, and lead levels associated with neural tube defects

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Maternal serum B12 levels and risk for neural tube defects in a Texas-Mexico border population

7 January 2021

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Methionine Synthase: High-Resolution Mapping of the Human Gene and Evaluation as a Candidate Locus for Neural Tube Defects

7 January 2021

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Methionine synthase and neural tube defects

7 January 2021

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Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease

7 January 2021

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Comorbidity of 5,10-methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms and risk for neural tube defects

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population

7 January 2021

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Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Mutations inmut methylmalonic acidemia: Clinical and enzymatic correlations

7 January 2021

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Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Elevated midtrimester serum methylmalonic acid levels as a risk factor for neural tube defects.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Structure of the human methylmalonyl-CoA mutase (MUT) locus

7 January 2021

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Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria

7 January 2021

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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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Major congenital neurologic malformations. A 17-year survey.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Neural tube defect prevalence in California (1990-1994): eliciting patterns by type of defect and maternal race/ethnicity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Heterogeneity in the prevalence of methylenetetrahydrofolate reductase gene polymorphisms in women of different ethnic groups

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

A common mutation among blacks with mut- methylmalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

inferred from DOI database lookup

7 January 2021

based on heuristic

Transcobalamins in the etiology of neural tube defects

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.009

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2003.09.009

1 reference

21 December 2017

1 reference

21 December 2017