FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000387274> ?p ?o ?g. }

• W2000387274 endingPage "636.e6" @default.
• W2000387274 startingPage "636.e1" @default.
• W2000387274 abstract "Objective The purpose of this research was to study factors that are involved in centromeric hypomethylation in the pathogenesis of Down syndrome (DS). Study Design This was a case-control study to evaluate the association between methyltetrahydrofolate reductase (MTHFR) C677T and methionine synthetase-reductase (MTRR) A66G polymorphisms and the risk of DS; we compared mothers in Italy who had children with DS and matched control subjects. Results Seventy-four cases of DS caused by an error in maternal meiosis were compared with 184 matched control subjects. The frequencies of the MTHFR C677T polymorphism were similar between the 2 groups. As regards the MTRR A66G polymorphism, the presence of the mutated G allele either in the heterozygous or homozygous form was significantly more common among mothers of children with DS than among control subjects (odds ratio, 2.21; 95% CI, 1.11-4.40). Conclusion In a population with a high prevalence of the mutated T allele, maternal MTRR A66G, but not MTHFR, polymorphisms are associated with Down syndrome. The purpose of this research was to study factors that are involved in centromeric hypomethylation in the pathogenesis of Down syndrome (DS). This was a case-control study to evaluate the association between methyltetrahydrofolate reductase (MTHFR) C677T and methionine synthetase-reductase (MTRR) A66G polymorphisms and the risk of DS; we compared mothers in Italy who had children with DS and matched control subjects. Seventy-four cases of DS caused by an error in maternal meiosis were compared with 184 matched control subjects. The frequencies of the MTHFR C677T polymorphism were similar between the 2 groups. As regards the MTRR A66G polymorphism, the presence of the mutated G allele either in the heterozygous or homozygous form was significantly more common among mothers of children with DS than among control subjects (odds ratio, 2.21; 95% CI, 1.11-4.40). In a population with a high prevalence of the mutated T allele, maternal MTRR A66G, but not MTHFR, polymorphisms are associated with Down syndrome." @default.
• W2000387274 created "2016-06-24" @default.
• W2000387274 creator A5027850840 @default.
• W2000387274 creator A5032948798 @default.
• W2000387274 creator A5033748226 @default.
• W2000387274 creator A5039412423 @default.
• W2000387274 creator A5051972725 @default.
• W2000387274 creator A5068056823 @default.
• W2000387274 creator A5079441146 @default.
• W2000387274 creator A5083575870 @default.
• W2000387274 date "2009-06-01" @default.
• W2000387274 modified "2023-10-02" @default.
• W2000387274 title "Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome" @default.
• W2000387274 cites W1529934215 @default.
• W2000387274 cites W1934232739 @default.
• W2000387274 cites W1970857676 @default.
• W2000387274 cites W1975652111 @default.
• W2000387274 cites W1992751077 @default.
• W2000387274 cites W1994782758 @default.
• W2000387274 cites W2010692698 @default.
• W2000387274 cites W2021647091 @default.
• W2000387274 cites W2025755447 @default.
• W2000387274 cites W2044542628 @default.
• W2000387274 cites W2048116659 @default.
• W2000387274 cites W2048731329 @default.
• W2000387274 cites W2071282605 @default.
• W2000387274 cites W2076492737 @default.
• W2000387274 cites W2083116612 @default.
• W2000387274 cites W2087891957 @default.
• W2000387274 cites W2091628175 @default.
• W2000387274 cites W2091917308 @default.
• W2000387274 cites W2095541261 @default.
• W2000387274 cites W2097124657 @default.
• W2000387274 cites W2097899606 @default.
• W2000387274 cites W2098841265 @default.
• W2000387274 cites W2107432126 @default.
• W2000387274 cites W2124036673 @default.
• W2000387274 cites W2165715420 @default.
• W2000387274 cites W2230432411 @default.
• W2000387274 cites W4254694901 @default.
• W2000387274 doi "https://doi.org/10.1016/j.ajog.2008.12.046" @default.
• W2000387274 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19254790" @default.
• W2000387274 hasPublicationYear "2009" @default.
• W2000387274 type Work @default.
• W2000387274 sameAs 2000387274 @default.
• W2000387274 citedByCount "36" @default.
• W2000387274 countsByYear W20003872742012 @default.
• W2000387274 countsByYear W20003872742013 @default.
• W2000387274 countsByYear W20003872742014 @default.
• W2000387274 countsByYear W20003872742015 @default.
• W2000387274 countsByYear W20003872742016 @default.
• W2000387274 countsByYear W20003872742018 @default.
• W2000387274 countsByYear W20003872742020 @default.
• W2000387274 countsByYear W20003872742021 @default.
• W2000387274 countsByYear W20003872742023 @default.
• W2000387274 crossrefType "journal-article" @default.
• W2000387274 hasAuthorship W2000387274A5027850840 @default.
• W2000387274 hasAuthorship W2000387274A5032948798 @default.
• W2000387274 hasAuthorship W2000387274A5033748226 @default.
• W2000387274 hasAuthorship W2000387274A5039412423 @default.
• W2000387274 hasAuthorship W2000387274A5051972725 @default.
• W2000387274 hasAuthorship W2000387274A5068056823 @default.
• W2000387274 hasAuthorship W2000387274A5079441146 @default.
• W2000387274 hasAuthorship W2000387274A5083575870 @default.
• W2000387274 hasConcept C104317684 @default.
• W2000387274 hasConcept C118552586 @default.
• W2000387274 hasConcept C126322002 @default.
• W2000387274 hasConcept C134651460 @default.
• W2000387274 hasConcept C146304588 @default.
• W2000387274 hasConcept C156957248 @default.
• W2000387274 hasConcept C180754005 @default.
• W2000387274 hasConcept C181199279 @default.
• W2000387274 hasConcept C2778087339 @default.
• W2000387274 hasConcept C2779954681 @default.
• W2000387274 hasConcept C43563269 @default.
• W2000387274 hasConcept C54355233 @default.
• W2000387274 hasConcept C55493867 @default.
• W2000387274 hasConcept C71924100 @default.
• W2000387274 hasConcept C86803240 @default.
• W2000387274 hasConcept C90924648 @default.
• W2000387274 hasConceptScore W2000387274C104317684 @default.
• W2000387274 hasConceptScore W2000387274C118552586 @default.
• W2000387274 hasConceptScore W2000387274C126322002 @default.
• W2000387274 hasConceptScore W2000387274C134651460 @default.
• W2000387274 hasConceptScore W2000387274C146304588 @default.
• W2000387274 hasConceptScore W2000387274C156957248 @default.
• W2000387274 hasConceptScore W2000387274C180754005 @default.
• W2000387274 hasConceptScore W2000387274C181199279 @default.
• W2000387274 hasConceptScore W2000387274C2778087339 @default.
• W2000387274 hasConceptScore W2000387274C2779954681 @default.
• W2000387274 hasConceptScore W2000387274C43563269 @default.
• W2000387274 hasConceptScore W2000387274C54355233 @default.
• W2000387274 hasConceptScore W2000387274C55493867 @default.
• W2000387274 hasConceptScore W2000387274C71924100 @default.
• W2000387274 hasConceptScore W2000387274C86803240 @default.
• W2000387274 hasConceptScore W2000387274C90924648 @default.
• W2000387274 hasIssue "6" @default.
• W2000387274 hasLocation W20003872741 @default.

• next