{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T08:57:05Z","timestamp":1774688225209,"version":"3.50.1"},"reference-count":21,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2014,10,1]],"date-time":"2014-10-01T00:00:00Z","timestamp":1412121600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,10,1]],"date-time":"2014-10-01T00:00:00Z","timestamp":1412121600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Cranio-Maxillofacial Surgery"],"published-print":{"date-parts":[[2014,10]]},"DOI":"10.1016\/j.jcms.2014.04.021","type":"journal-article","created":{"date-parts":[[2014,5,1]],"date-time":"2014-05-01T20:48:38Z","timestamp":1398977318000},"page":"1503-1505","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["RFC1 and non-syndromic cleft lip with or without cleft palate: An association based study in Italy"],"prefix":"10.1016","volume":"42","author":[{"given":"Ambra","family":"Girardi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcella","family":"Martinelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Cura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annalisa","family":"Palmieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Carinci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Sesenna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Scapoli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jcms.2014.04.021_bib1","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1093\/bioinformatics\/bth457","article-title":"Haploview: analysis and visualization of LD and haplotype maps","volume":"21","author":"Barrett","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jcms.2014.04.021_bib2","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1002\/bdra.20740","article-title":"Folate pathway and nonsyndromic cleft lip and palate","volume":"91","author":"Blanton","year":"2011","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"10.1016\/j.jcms.2014.04.021_bib3","first-page":"337","article-title":"Nonsyndromic cleft lip and palate: evidence of linkage to a microsatellite marker on 6p23","volume":"56","author":"Carinci","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jcms.2014.04.021_bib4","doi-asserted-by":"crossref","first-page":"21","DOI":"10.3945\/an.111.000992","article-title":"Folate and DNA methylation: a review of molecular mechanisms and the evidence for folate's role","volume":"3","author":"Crider","year":"2012","journal-title":"Adv Nutr"},{"key":"10.1016\/j.jcms.2014.04.021_bib5","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/ajh.2830310103","article-title":"In\u00a0vitro DNA synthesis by megaloblastic bone marrow: effect of folates and cobalamins on thymidine incorporation and de novo thymidylate synthesis","volume":"31","author":"Das","year":"1989","journal-title":"Am J Hematol"},{"key":"10.1016\/j.jcms.2014.04.021_bib6","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1038\/sj.ejhg.5200625","article-title":"The family based association test method: strategies for studying general genotype\u2013phenotype associations","volume":"9","author":"Horvath","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jcms.2014.04.021_bib7","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/gepi.10295","article-title":"Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics","volume":"26","author":"Horvath","year":"2004","journal-title":"Genet Epidemiol"},{"key":"10.1016\/j.jcms.2014.04.021_bib8","doi-asserted-by":"crossref","first-page":"64","DOI":"10.4103\/0973-029X.92976","article-title":"A\u00a0comprehensive review of the genetic basis of cleft lip and palate","volume":"16","author":"Kohli","year":"2012","journal-title":"J\u00a0Oral Maxillofac Pathol"},{"key":"10.1016\/j.jcms.2014.04.021_bib9","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1111\/j.1600-0722.2011.00824.x","article-title":"New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate","volume":"119","author":"Martinelli","year":"2011","journal-title":"Eur J Oral Sci"},{"key":"10.1016\/j.jcms.2014.04.021_bib10","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1002\/humu.9411","article-title":"Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate","volume":"27","author":"Martinelli","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jcms.2014.04.021_bib11","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/1096-8628(20010201)98:4<357::AID-AJMG1108>3.0.CO;2-F","article-title":"C677T variant form at the MTHFR gene and CL\/P: a risk factor for mothers?","volume":"98","author":"Martinelli","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jcms.2014.04.021_bib12","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1016\/S0140-6736(09)60695-4","article-title":"Cleft lip and palate","volume":"374","author":"Mossey","year":"2009","journal-title":"Lancet"},{"key":"10.1016\/j.jcms.2014.04.021_bib13","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/j.1399-0004.2006.00618.x","article-title":"Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population","volume":"69","author":"Mostowska","year":"2006","journal-title":"Clin Genet"},{"key":"10.1016\/j.jcms.2014.04.021_bib14","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1053\/gast.1997.v112.pm9041240","article-title":"Human intestinal folate transport: cloning, expression, and distribution of complementary RNA","volume":"112","author":"Nguyen","year":"1997","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jcms.2014.04.021_bib15","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.annepidem.2005.02.014","article-title":"Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China","volume":"16","author":"Pei","year":"2006","journal-title":"Ann Epidemiol"},{"key":"10.1016\/j.jcms.2014.04.021_bib16","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1002\/humu.9257","article-title":"Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate","volume":"24","author":"Pezzetti","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jcms.2014.04.021_bib17","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1002\/gepi.20186","article-title":"A\u00a0new multimarker test for family-based association studies","volume":"31","author":"Rakovski","year":"2007","journal-title":"Genet Epidemiol"},{"key":"10.1016\/j.jcms.2014.04.021_bib18","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1093\/aje\/kwg189","article-title":"Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defects","volume":"158","author":"Shaw","year":"2003","journal-title":"Am J Epidemiol"},{"key":"10.1016\/j.jcms.2014.04.021_bib19","doi-asserted-by":"crossref","first-page":"1717","DOI":"10.1515\/CCLM.2007.345","article-title":"Importance of folate-homocysteine homeostasis during early embryonic development","volume":"45","author":"Taparia","year":"2007","journal-title":"Clin Chem Lab Med"},{"key":"10.1016\/j.jcms.2014.04.021_bib20","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1590\/S0100-879X2008000800009","article-title":"Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only","volume":"41","author":"Vieira","year":"2008","journal-title":"Braz J Med Biol Res"},{"key":"10.1016\/j.jcms.2014.04.021_bib21","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1002\/ajmg.a.30705","article-title":"Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects","volume":"135","author":"Vieira","year":"2005","journal-title":"Am J Med Genet A"}],"container-title":["Journal of Cranio-Maxillofacial Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1010518214001449?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1010518214001449?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T14:30:59Z","timestamp":1760884259000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1010518214001449"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10]]},"references-count":21,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["S1010518214001449"],"URL":"https:\/\/doi.org\/10.1016\/j.jcms.2014.04.021","relation":{},"ISSN":["1010-5182"],"issn-type":[{"value":"1010-5182","type":"print"}],"subject":[],"published":{"date-parts":[[2014,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"RFC1 and non-syndromic cleft lip with or without cleft palate: An association based study in Italy","name":"articletitle","label":"Article Title"},{"value":"Journal of Cranio-Maxillofacial Surgery","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jcms.2014.04.021","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}