Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects
APC Brandalize, E Bandinelli… - American journal of …, 2009 - Wiley Online Library
Abnormal folate/homocysteine metabolism due to polymorphisms in genes involved in this
pathway has been implicated as an etiologic factor in Down syndrome (DS). This case …
pathway has been implicated as an etiologic factor in Down syndrome (DS). This case …
Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women
F Coppedè, G Marini, S Bargagna… - American journal of …, 2006 - Wiley Online Library
Maternal impairments in folate metabolism and elevated homocysteinemia are known risk
factors for having a child with Down syndrome (DS) at a young age. The 80G> A …
factors for having a child with Down syndrome (DS) at a young age. The 80G> A …
Maternal MTR genotype contributes to the risk of non‐syndromic cleft lip and palate in the Polish population
A Mostowska, KK Hozyasz, PP Jagodzinski - Clinical genetics, 2006 - Wiley Online Library
The aetiology of non‐syndromic cleft lip with or without cleft palate (CL/P) is very complex. It
has been shown that polymorphic variants of genes encoding key proteins of folate and …
has been shown that polymorphic variants of genes encoding key proteins of folate and …
[HTML][HTML] MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers
Abstract Down's syndrome (DS), a chromosomal disorder due to trisomy 21, results mostly
from nondisjunction in maternal meiosis. The present case-control study examined the …
from nondisjunction in maternal meiosis. The present case-control study examined the …
Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring: a meta-analysis
X Wu, X Wang, Y Chan, S Jia, Y Luo, W Tang - European Journal of …, 2013 - Elsevier
OBJECTIVES: MTHFR C677T and A1298C have been associated with the risk of having an
infant with Down syndrome (DS), but results were conflicting. We performed this meta …
infant with Down syndrome (DS), but results were conflicting. We performed this meta …
[HTML][HTML] Folate metabolism and the risk of Down syndrome
D Patterson - Down Syndrome Research and Practice, 2008 - down-syndrome.org
Folate is an important vitamin that contributes to cell division and growth and is therefore of
particular importance during infancy and pregnancy. Folate deficiency has been associated …
particular importance during infancy and pregnancy. Folate deficiency has been associated …
[HTML][HTML] The effect of 1 mg folic acid supplementation on clinical outcomes in female migraine with aura patients
S Menon, B Nasir, N Avgan, S Ghassabian… - The journal of headache …, 2016 - Springer
Background Migraine is a common neurovascular condition that may be linked to
hyperhomocysteinemia. We have previously provided evidence that reduction of …
hyperhomocysteinemia. We have previously provided evidence that reduction of …
[PDF][PDF] Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil
The aim of the present study was to investigate the effect of polymorphisms C677T and
A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine …
A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine …
Maternal gene polymorphisms involved in folate metabolism and the risk of having a Down syndrome offspring: a meta-analysis
M Yang, T Gong, X Lin, L Qi, Y Guo, Z Cao… - …, 2013 - academic.oup.com
Down syndrome (DS) is the most common chromosomal abnormality. Many studies have
assessed the association between maternal gene polymorphisms involved in folate …
assessed the association between maternal gene polymorphisms involved in folate …
The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with …
ML Martínez‐Frías - American journal of medical genetics Part …, 2008 - Wiley Online Library
Studies on the structure of the methylenetetrahydrofolate reductase (MTHFR) gene and the
mechanisms by which folate may reduce homocysteine levels in bacteria and in humans …
mechanisms by which folate may reduce homocysteine levels in bacteria and in humans …