Epidemiology of Down syndrome
Down syndrome (DS) is the most commonly identified genetic form of mental retardation and
the leading cause of specific birth defects and medical conditions. Traditional …
the leading cause of specific birth defects and medical conditions. Traditional …
The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects
F Coppedè - Frontiers in genetics, 2015 - frontiersin.org
Almost 15 years ago it was hypothesized that polymorphisms of genes encoding enzymes
involved in folate metabolism could lead to aberrant methylation of peri-centromeric regions …
involved in folate metabolism could lead to aberrant methylation of peri-centromeric regions …
[图书][B] Folate in health and disease
LB Bailey - 2009 - taylorfrancis.com
During the fifteen years since the bestselling first edition of Folate in Health and Disease
was published, there have been thousands of new research studies related to folate and its …
was published, there have been thousands of new research studies related to folate and its …
Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia
R de Jonge, WJE Tissing, JH Hooijberg… - Blood, The Journal …, 2009 - ashpublications.org
Polymorphisms in folate pathway genes may influence the susceptibility to acute
lymphoblastic leukemia (ALL). DNA was isolated from 245 pediatric ALL patients (cases) …
lymphoblastic leukemia (ALL). DNA was isolated from 245 pediatric ALL patients (cases) …
One-carbon metabolism and Alzheimer's disease: focus on epigenetics
F Coppedè - Current genomics, 2010 - ingentaconnect.com
Alzheimer's disease (AD) represents the most common form of dementia in the elderly,
characterized by progressive loss of memory and cognitive capacity severe enough to …
characterized by progressive loss of memory and cognitive capacity severe enough to …
Association of C677T and A1298C polymorphisms of the MTHFR gene with maternal risk for Down syndrome: A meta-analysis of case-control studies
CTA Ginani, JRD da Luz, KS de Medeiros… - … Research/Reviews in …, 2023 - Elsevier
Background Several studies around the world support the hypothesis that genetic
polymorphisms involved in folate metabolism could be related to the maternal risk for Down …
polymorphisms involved in folate metabolism could be related to the maternal risk for Down …
Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies
V Rai, U Yadav, P Kumar, SK Yadav, OP Mishra - Plos one, 2014 - journals.plos.org
Background Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme of folate
metabolic pathway which catalyzes the irreversible conversion of 5, 10 …
metabolic pathway which catalyzes the irreversible conversion of 5, 10 …
The complex relationship between folate/homocysteine metabolism and risk of Down syndrome
F Coppedè - Mutation Research/Reviews in Mutation Research, 2009 - Elsevier
Folates are essential nutrients that are required for one-carbon biosynthetic and epigenetic
processes. A deficiency in cellular folates results in aberrant DNA methylation, point …
processes. A deficiency in cellular folates results in aberrant DNA methylation, point …
Polymorphisms in genes involved in folate metabolism and orofacial clefts
L Bhaskar, J Murthy, GV Babu - Archives of oral biology, 2011 - Elsevier
BACKGROUND: Orofacial clefts (OFCs) are one of the most common birth defects in
humans. Maternal use of folate antagonists including dihydrofolate reductase inhibitors has …
humans. Maternal use of folate antagonists including dihydrofolate reductase inhibitors has …
Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring
F Coppedè, F Migheli, S Bargagna, G Siciliano… - Neuroscience …, 2009 - Elsevier
We analyzed the role of six common polymorphisms in folate metabolizing genes as
possible risk factors for having a child with Down syndrome (DS) in 94 Italian mothers of a …
possible risk factors for having a child with Down syndrome (DS) in 94 Italian mothers of a …