FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2040730922> ?p ?o ?g. }

• W2040730922 endingPage "74" @default.
• W2040730922 startingPage "71" @default.
• W2040730922 abstract "Folic acid can prevent neural tube defects; in some cases the mechanism is probably a correction of a metabolic defect caused by thermolabile methylenetetrahydrofolate reductase (MTHFR) found in increased frequency in cases. It is less clear whether folic acid can prevent oral clefts, in part because it is not known whether thermolabile MTHFR is more common in those with oral clefts. This study examined the prevalence of the mutation (677 C→T) that causes thermolabile MTHFR in subjects with oral clefts from a national Irish support group, and an anonymous control group randomly selected from a neonatal screening program covering all births in Ireland. Eighty-three of 848 control subjects were homozygous (TT) thermolabile MTHFR (9.8%). This defect was almost three times as common in the 27 subjects (25.9%) with isolated cleft palate (odds ratio 3.23, 95% confidence interval 1.32 –7.86, P = 0.02) and somewhat more common in the 66 subjects with cleft lip with or without cleft palate (15.2%, odds ratio 1.65, 95% confidence interval 0.81–3.35, P = 0.20). When the two groups with different etiologies were combined, the overall odds ratio was 2.06 (95% confidence interval 1.16–3.66, P = 0.02). In the Irish population homozygosity for the common folate-related polymorphism associated with thermolabile MTHFR is significantly more frequent in those with isolated cleft palate, and could be etiologically important. Am. J. Med. Genet. 86:71–74, 1999. Published 1999 Wiley-Liss, Inc." @default.
• W2040730922 created "2016-06-24" @default.
• W2040730922 creator A5002852349 @default.
• W2040730922 creator A5006841732 @default.
• W2040730922 creator A5037091799 @default.
• W2040730922 creator A5040331916 @default.
• W2040730922 creator A5040988177 @default.
• W2040730922 creator A5049362478 @default.
• W2040730922 creator A5067188351 @default.
• W2040730922 creator A5083720700 @default.
• W2040730922 creator A5091791224 @default.
• W2040730922 date "1999-09-03" @default.
• W2040730922 modified "2023-09-27" @default.
• W2040730922 title "Methylenetetrahydrofolate reductase thermolabile variant and oral clefts" @default.
• W2040730922 cites W1989065382 @default.
• W2040730922 cites W1995877613 @default.
• W2040730922 cites W1999728166 @default.
• W2040730922 cites W1999968416 @default.
• W2040730922 cites W2012284140 @default.
• W2040730922 cites W2026993409 @default.
• W2040730922 cites W2061362539 @default.
• W2040730922 cites W2064502343 @default.
• W2040730922 cites W2067137034 @default.
• W2040730922 cites W2071214764 @default.
• W2040730922 cites W2079960007 @default.
• W2040730922 cites W2144062723 @default.
• W2040730922 cites W2150922552 @default.
• W2040730922 cites W2172013213 @default.
• W2040730922 cites W4300479806 @default.
• W2040730922 doi "https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<71::aid-ajmg14>3.0.co;2-y" @default.
• W2040730922 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10440833" @default.
• W2040730922 hasPublicationYear "1999" @default.
• W2040730922 type Work @default.
• W2040730922 sameAs 2040730922 @default.
• W2040730922 citedByCount "133" @default.
• W2040730922 countsByYear W20407309222012 @default.
• W2040730922 countsByYear W20407309222013 @default.
• W2040730922 countsByYear W20407309222014 @default.
• W2040730922 countsByYear W20407309222015 @default.
• W2040730922 countsByYear W20407309222016 @default.
• W2040730922 countsByYear W20407309222017 @default.
• W2040730922 countsByYear W20407309222018 @default.
• W2040730922 countsByYear W20407309222019 @default.
• W2040730922 countsByYear W20407309222021 @default.
• W2040730922 countsByYear W20407309222022 @default.
• W2040730922 crossrefType "journal-article" @default.
• W2040730922 hasAuthorship W2040730922A5002852349 @default.
• W2040730922 hasAuthorship W2040730922A5006841732 @default.
• W2040730922 hasAuthorship W2040730922A5037091799 @default.
• W2040730922 hasAuthorship W2040730922A5040331916 @default.
• W2040730922 hasAuthorship W2040730922A5040988177 @default.
• W2040730922 hasAuthorship W2040730922A5049362478 @default.
• W2040730922 hasAuthorship W2040730922A5067188351 @default.
• W2040730922 hasAuthorship W2040730922A5083720700 @default.
• W2040730922 hasAuthorship W2040730922A5091791224 @default.
• W2040730922 hasConcept C104317684 @default.
• W2040730922 hasConcept C126322002 @default.
• W2040730922 hasConcept C135763542 @default.
• W2040730922 hasConcept C156957248 @default.
• W2040730922 hasConcept C181199279 @default.
• W2040730922 hasConcept C2779155592 @default.
• W2040730922 hasConcept C43563269 @default.
• W2040730922 hasConcept C44249647 @default.
• W2040730922 hasConcept C54355233 @default.
• W2040730922 hasConcept C55493867 @default.
• W2040730922 hasConcept C71924100 @default.
• W2040730922 hasConcept C86803240 @default.
• W2040730922 hasConcept C90924648 @default.
• W2040730922 hasConceptScore W2040730922C104317684 @default.
• W2040730922 hasConceptScore W2040730922C126322002 @default.
• W2040730922 hasConceptScore W2040730922C135763542 @default.
• W2040730922 hasConceptScore W2040730922C156957248 @default.
• W2040730922 hasConceptScore W2040730922C181199279 @default.
• W2040730922 hasConceptScore W2040730922C2779155592 @default.
• W2040730922 hasConceptScore W2040730922C43563269 @default.
• W2040730922 hasConceptScore W2040730922C44249647 @default.
• W2040730922 hasConceptScore W2040730922C54355233 @default.
• W2040730922 hasConceptScore W2040730922C55493867 @default.
• W2040730922 hasConceptScore W2040730922C71924100 @default.
• W2040730922 hasConceptScore W2040730922C86803240 @default.
• W2040730922 hasConceptScore W2040730922C90924648 @default.
• W2040730922 hasIssue "1" @default.
• W2040730922 hasLocation W20407309221 @default.
• W2040730922 hasLocation W20407309222 @default.
• W2040730922 hasOpenAccess W2040730922 @default.
• W2040730922 hasPrimaryLocation W20407309221 @default.
• W2040730922 hasRelatedWork W1605661417 @default.
• W2040730922 hasRelatedWork W1982456429 @default.
• W2040730922 hasRelatedWork W2012073172 @default.
• W2040730922 hasRelatedWork W2015180711 @default.
• W2040730922 hasRelatedWork W2040730922 @default.
• W2040730922 hasRelatedWork W2104080712 @default.
• W2040730922 hasRelatedWork W2130826341 @default.
• W2040730922 hasRelatedWork W2416191197 @default.
• W2040730922 hasRelatedWork W2784119056 @default.
• W2040730922 hasRelatedWork W52585057 @default.
• W2040730922 hasVolume "86" @default.
• W2040730922 isParatext "false" @default.

• next