(Q33608633)

28 July 2017

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome (English)

1 reference

28 July 2017

1 reference

6

Elaine Zackai

1 reference

28 July 2017

Donna M McDonald-McGinn

4

object named as

Donna McDonald-McGinn

1 reference

28 July 2017

1

Elizabeth Goldmuntz

1 reference

28 July 2017

Deborah A Driscoll

2

1 reference

28 July 2017

Beverly S Emanuel

3

1 reference

28 July 2017

Minghua Mei

5

1 reference

28 July 2017

Laura E Mitchell

7

1 reference

28 July 2017

language of work or name

1 reference

1 February 2009

1 reference

Birth Defects Research Part A: Clinical and Molecular Teratology

28 July 2017

1 reference

28 July 2017

85

1 reference

28 July 2017

2

1 reference

28 July 2017

125-129

1 reference

Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

DiGeorge syndrome: new insights

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Periconceptional multivitamin use and the occurrence of conotruncal heart defects: results from a population-based, case-control study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

VEGF: a modifier of the del22q11 (DiGeorge) syndrome?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Exploring gene-gene interactions in the etiology of neural tube defects.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810963

Occurrence of congenital heart defects in relation to maternal mulitivitamin use

30 October 2018

1 reference

12 December 2020

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

1 reference

12 December 2020

Reduction of urinary tract and cardiovascular defects by periconceptional multivitamin supplementation

1 reference

12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

12 December 2020

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

1 reference

12 December 2020

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients

1 reference

12 December 2020

Accurate and rapid "multiplex heteroduplexing" method for genotyping key enzymes involved in folate/homocysteine metabolism

1 reference

12 December 2020

Identifiers

DOI

10.1002/BDRA.20501

1 reference

28 July 2017

1 reference

28 July 2017

1 reference