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Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.
Butali A, Mossey PA, Adeyemo WL, Jezewski PA, Onwuamah CK, Ogunlewe MO, Ugboko VI, Adejuyigbe O, Adigun AI, Abdur-Rahman LO, Onah II, Audu RA, Idigbe EO, Mansilla MA, Dragan EA, Petrin AL, Bullard SA, Uduezue AO, Akpata O, Osaguona AO, Olasoji HO, Ligali TO, Kejeh BM, Iseh KR, Olaitan PB, Adebola AR, Efunkoya E, Adesina OA, Oluwatosin OM, Murray JC; NigeriaCRAN Collaboration. Butali A, et al. Among authors: bullard sa. Cleft Palate Craniofac J. 2011 Nov;48(6):646-53. doi: 10.1597/10-133. Epub 2011 Jul 8. Cleft Palate Craniofac J. 2011. PMID: 21740177 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. 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.
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. 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.
Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.
Liu H, Busch T, Eliason S, Anand D, Bullard S, Gowans LJJ, Nidey N, Petrin A, Augustine-Akpan EA, Saadi I, Dunnwald M, Lachke SA, Zhu Y, Adeyemo A, Amendt B, Roscioli T, Cornell R, Murray J, Butali A. Liu H, et al. Among authors: bullard s. Birth Defects Res. 2017 Jan 20;109(1):27-37. doi: 10.1002/bdra.23596. Birth Defects Res. 2017. PMID: 28029220 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: bullard sa. 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.
A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1.
Lidral AC, Liu H, Bullard SA, Bonde G, Machida J, Visel A, Uribe LM, Li X, Amendt B, Cornell RA. Lidral AC, et al. Among authors: bullard sa. Hum Mol Genet. 2015 Jul 15;24(14):3895-907. doi: 10.1093/hmg/ddv047. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652407 Free PMC article.
143 results