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Page 1
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. Among authors: mansilla ma. 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.
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.
Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, Goldstein T, Maher BS, Daack-Hirsch S, Schultz R, Mansilla MA, Field LL, Liu YE, Prescott N, Malcolm S, Winter R, Ray A, Moreno L, Valencia C, Neiswanger K, Wyszynski DF, Bailey-Wilson JE, Albacha-Hejazi H, Beaty TH, McIntosh I, Hetmanski JB, Tunçbilek G, Edwards M, Harkin L, Scott R, Roddick LG. Marazita ML, et al. Among authors: mansilla ma. Am J Hum Genet. 2004 Aug;75(2):161-73. doi: 10.1086/422475. Epub 2004 Jun 4. Am J Hum Genet. 2004. PMID: 15185170 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. Among authors: mansilla ma. Hum Hered. 2009;68(3):151-70. doi: 10.1159/000224636. Epub 2009 Jun 11. Hum Hered. 2009. PMID: 19521098 Free PMC article.
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Arcos-Burgos M, Scott AF. Beaty TH, et al. Among authors: ma l, mansilla ma. Nat Genet. 2010 Jun;42(6):525-9. doi: 10.1038/ng.580. Epub 2010 May 2. Nat Genet. 2010. PMID: 20436469 Free PMC article.
Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.
Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H, Parker MM, Hetmanski JB, Balakrishnan P, Mansilla MA, Mangold E, Ludwig KU, Noethen MM, Rubini M, Elcioglu N, Ruczinski I. Beaty TH, et al. Among authors: mansilla ma. Hum Genet. 2013 Jul;132(7):771-81. doi: 10.1007/s00439-013-1283-6. Epub 2013 Mar 20. Hum Genet. 2013. PMID: 23512105 Free PMC article.
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.
Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Machida J, Johnson MK, Brauer D, Krahn K, Daack-Hirsch S, L'heureux J, Valencia-Ramirez C, Rivera D, López AM, Moreno MA, Hing A, Lammer EJ, Jones M, Christensen K, Lie RT, Jugessur A, Wilcox AJ, Chines P, Pugh E, Doheny K, Arcos-Burgos M, Marazita ML, Murray JC, Lidral AC. Moreno LM, et al. Among authors: mansilla ma. Hum Mol Genet. 2009 Dec 15;18(24):4879-96. doi: 10.1093/hmg/ddp444. Epub 2009 Sep 24. Hum Mol Genet. 2009. PMID: 19779022 Free PMC article.
Contributions of PTCH gene variants to isolated cleft lip and palate.
Mansilla MA, Cooper ME, Goldstein T, Castilla EE, Lopez Camelo JS, Marazita ML, Murray JC. Mansilla MA, et al. Cleft Palate Craniofac J. 2006 Jan;43(1):21-9. doi: 10.1597/04-169r.1. Cleft Palate Craniofac J. 2006. PMID: 16405370 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. Among authors: ma l, mansilla ma. 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.
Impaired FGF signaling contributes to cleft lip and palate.
Riley BM, Mansilla MA, Ma J, Daack-Hirsch S, Maher BS, Raffensperger LM, Russo ET, Vieira AR, Dodé C, Mohammadi M, Marazita ML, Murray JC. Riley BM, et al. Among authors: mansilla ma, ma j. Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4512-7. doi: 10.1073/pnas.0607956104. Epub 2007 Mar 6. Proc Natl Acad Sci U S A. 2007. PMID: 17360555 Free PMC article.
Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.
Leslie EJ, Mansilla MA, Biggs LC, Schuette K, Bullard S, Cooper M, Dunnwald M, Lidral AC, Marazita ML, Beaty TH, Murray JC. Leslie EJ, et al. Among authors: mansilla ma. Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):934-42. doi: 10.1002/bdra.23076. Epub 2012 Sep 24. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 23008150 Free PMC article.
38 results