Detalhe da pesquisa
1.
Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts.
Am J Med Genet A
; 170A(4): 1007-16, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789141
2.
Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
Proc Natl Acad Sci U S A
; 110(2): 588-93, 2013 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23267103
3.
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.
BMC Med Genet
; 15: 102, 2014 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25293959
4.
Is low iron status a risk factor for neural tube defects?
Birth Defects Res A Clin Mol Teratol
; 100(2): 100-6, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24535840
5.
Lack of association between folate-receptor autoantibodies and neural-tube defects.
N Engl J Med
; 361(2): 152-60, 2009 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-19587340
6.
Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects.
BMC Med Genet
; 13: 62, 2012 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22856873
7.
Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.
Am J Med Genet A
; 155A(1): 14-21, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204206
8.
Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.
Birth Defects Res A Clin Mol Teratol
; 88(2): 84-93, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19937600
9.
A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.
Hum Mutat
; 30(12): 1650-6, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19777576
10.
Analysis of the MTHFD1 promoter and risk of neural tube defects.
Hum Genet
; 125(3): 247-56, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19130090
11.
The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects.
Birth Defects Res A Clin Mol Teratol
; 85(4): 285-94, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19235830
12.
Uncoupling protein 2 polymorphisms as risk factors for NTDs.
Birth Defects Res A Clin Mol Teratol
; 85(2): 156-60, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19137581
13.
Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population.
Am J Med Genet A
; 146A(20): 2617-25, 2008 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18798306
14.
Survival and disability in a cohort of neural tube defect births in Dublin, Ireland.
Birth Defects Res A Clin Mol Teratol
; 82(10): 701-9, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18803309
15.
Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate.
Birth Defects Res A Clin Mol Teratol
; 82(9): 636-43, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18661527
16.
Effects of folate and vitamin B12 deficiencies during pregnancy on fetal, infant, and child development.
Food Nutr Bull
; 29(2 Suppl): S101-11; discussion S112-5, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18709885
17.
Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.
Eur J Hum Genet
; 14(6): 768-72, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16552426
18.
Maternal folate, vitamin B12 and homocysteine levels in pregnancies affected by congenital malformations other than neural tube defects.
Birth Defects Res A Clin Mol Teratol
; 91(7): 610-5, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21591245
19.
Choline and homocysteine interrelations in umbilical cord and maternal plasma at delivery.
Am J Clin Nutr
; 82(4): 836-42, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16210714
20.
MTRR and MTHFR polymorphism: link to Down syndrome?
Am J Med Genet
; 107(2): 151-5, 2002 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-11807890