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Page 1
Novel cleft susceptibility genes in chromosome 6q.
Letra A, Menezes R, Fonseca RF, Govil M, McHenry T, Murphy MJ, Hennebold JD, Granjeiro JM, Castilla EE, Orioli IM, Martin R, Marazita ML, Bjork BC, Vieira AR. Letra A, et al. J Dent Res. 2010 Sep;89(9):927-32. doi: 10.1177/0022034510370004. Epub 2010 May 28. J Dent Res. 2010. PMID: 20511563 Free PMC article.
The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.
Choi SJ, Marazita ML, Hart PS, Sulima PP, Field LL, McHenry TG, Govil M, Cooper ME, Letra A, Menezes R, Narayanan S, Mansilla MA, Granjeiro JM, Vieira AR, Lidral AC, Murray JC, Hart TC. Choi SJ, et al. Eur J Hum Genet. 2009 Jun;17(6):774-84. doi: 10.1038/ejhg.2008.245. Epub 2008 Dec 17. Eur J Hum Genet. 2009. PMID: 19092777 Free PMC article.
Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results.
Marazita ML, Lidral AC, Murray JC, Field LL, Maher BS, Goldstein McHenry T, Cooper ME, Govil M, Daack-Hirsch S, Riley B, Jugessur A, Felix T, Morene L, Mansilla MA, Vieira AR, Doheny K, Pugh E, Valencia-Ramirez C, Arcos-Burgos M. Marazita ML, et al. Hum Hered. 2009;68(3):151-70. doi: 10.1159/000224636. Epub 2009 Jun 11. Hum Hered. 2009. PMID: 19521098 Free PMC article.
CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate.
Letra A, Menezes R, Cooper ME, Fonseca RF, Tropp S, Govil M, Granjeiro JM, Imoehl SR, Mansilla MA, Murray JC, Castilla EE, Orioli IM, Czeizel AE, Ma L, Chiquet BT, Hecht JT, Vieira AR, Marazita ML. Letra A, et al. Cleft Palate Craniofac J. 2011 Jul;48(4):363-70. doi: 10.1597/09-227. Epub 2010 Jul 1. Cleft Palate Craniofac J. 2011. PMID: 20815724 Free PMC article.