Folate pathway gene alterations in patients with neural tube defects (Q42638450)

4 November 2017

title

Folate pathway gene alterations in patients with neural tube defects (English)

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4 November 2017

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P De Marco

1

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4 November 2017

A Moroni

2

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4 November 2017

E Merello

3

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4 November 2017

R de Franchis

4

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4 November 2017

L Andreussi

5

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4 November 2017

R H Finnell

6

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4 November 2017

R C Barber

7

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4 November 2017

A Cama

8

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4 November 2017

V Capra

9

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4 November 2017

publication date

1 November 2000

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American Journal of Medical Genetics Part A

4 November 2017

published in

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4 November 2017

volume

95

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4 November 2017

issue

3

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4 November 2017

page(s)

216-223

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Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency

4 November 2017

cites work

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https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

Lack of association between mutations in the folate receptor-alpha gene and spina bifida

21 January 2018

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https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

Evolution of immunoglobulin V genes: evidence indicating that recently duplicated human V kappa sequences have diverged by gene conversion

21 January 2018

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https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

Site-directed mutagenesis of tryptophan residues to conserved hydrophobic residues inhibits the processing of human KB cell folate receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

The divergent 5' termini of the alpha human folate receptor (hFR) mRNAs originate from two tissue-specific promoters and alternative splicing: characterization of the alpha hFR gene structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

Gene conversion in the evolution of the human and chimpanzee MHC class I loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

Complementary DNA for the folate binding protein correctly predicts anchoring to the membrane by glycosyl-phosphatidylinositol

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

Homocysteine metabolism in pregnancies complicated by neural-tube defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

Mice lacking the folic acid-binding protein Folbp1 are defective in early embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

Genomic organization of the human folate receptor genes on chromosome 11q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

Identification of a novel folate receptor, a truncated receptor, and receptor type beta in hematopoietic cells: cDNA cloning, expression, immunoreactivity, and tissue specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

Molecular pathology of steroid 21-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F

21 January 2018

Identifiers

DOI

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4 November 2017

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