(Q24540193)

English

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.

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

D C Shields

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

P N Kirke

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

D Ramsbottom

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

H Burke

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

D G Weir

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

J M Scott

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

A S Whitehead

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

language of work or name

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publication date

1 April 1999

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

64

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1045-1055

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

7 April 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

27 September 2017

Thermolabile variant of 5,10-methylenetetrahydrofolate reductase associated with low red-cell folates: implications for folate intake recommendations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

27 September 2017

Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

27 September 2017

Comparison of statistics for candidate-gene association studies using cases and parents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

27 September 2017

Folate/vitamin B12 inter-relationships

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

27 September 2017

Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

27 September 2017

Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

27 September 2017

Evaluation of the MTHFR C677T allele and the MTHFR gene locus in a German spina bifida population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

30 May 2018

Methionine synthase and neural tube defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

30 May 2018

General score tests for associations of genetic markers with disease using cases and their parents.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

30 May 2018

Levels of gamma-glutamyltranspeptidase in cultured skin fibroblasts from cystinotics and normals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

30 May 2018

Low blood folates in NTD pregnancies are only partly explained by thermolabile 5,10-methylenetetrahydrofolate reductase: low folate status alone may be the critical factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

29 November 2018

Differentiating between fetal and maternal genotypic effects, using the transmission test for linkage disequilibrium.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

29 November 2018

Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

29 November 2018

5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

29 November 2018

Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

29 November 2018

A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

29 November 2018

Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

29 November 2018

Maternal hyperhomocysteinemia: a risk factor for neural-tube defects?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

29 November 2018

Homocysteine metabolism in pregnancies complicated by neural-tube defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

29 November 2018

Neural-tube defects and derangement of homocysteine metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377828

29 November 2018

The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thermolabile methylenetetrahydrofolate reductase in patients with coronary artery disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Folate levels and neural tube defects. Implications for prevention

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spina bifida, 677T-->C mutation, and role of folate

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relevance to spina bifida of mutated methylenetetrahydrofolate reductase

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylenetetrahydrofolate reductase and neural tube defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The common 'thermolabile' variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased methylene tetrahydrofolate reductase activity due to the 677C-->T mutation in families with spina bifida offspring

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is the common 677C-->T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/10090889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/10.1086%2F302310

7 January 2021

based on heuristic

inferred from DOI database lookup

Methylenetetrahydrofolate reductase mutation and neural tube defects

1 reference

https://api.crossref.org/works/10.1086%2F302310

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090889%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

ResearchGate publication ID

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