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Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.
Awotoye W, Mossey PA, Hetmanski JB, Gowans LJJ, Eshete MA, Adeyemo WL, Alade A, Zeng E, Adamson O, Naicker T, Anand D, Adeleke C, Busch T, Li M, Petrin A, Aregbesola BS, Braimah RO, Oginni FO, Oladele AO, Oladayo A, Kayali S, Olotu J, Hassan M, Pape J, Donkor P, Arthur FKN, Obiri-Yeboah S, Sabbah DK, Agbenorku P, Plange-Rhule G, Oti AA, Gogal RA, Beaty TH, Taub M, Marazita ML, Schnieders MJ, Lachke SA, Adeyemo AA, Murray JC, Butali A. Awotoye W, et al. Among authors: petrin a. Sci Rep. 2022 Jul 11;12(1):11743. doi: 10.1038/s41598-022-15885-1. Sci Rep. 2022. PMID: 35817949 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: petrin a. 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.
Clinical findings in patients with GLI2 mutations--phenotypic variability.
Bertolacini CD, Ribeiro-Bicudo LA, Petrin A, Richieri-Costa A, Murray JC. Bertolacini CD, et al. Among authors: petrin a. Clin Genet. 2012 Jan;81(1):70-5. doi: 10.1111/j.1399-0004.2010.01606.x. Epub 2011 Jan 19. Clin Genet. 2012. PMID: 21204792 Free PMC article.
Monozygotic twins with variable expression of Van der Woude syndrome.
Jobling R, Ferrier RA, McLeod R, Petrin AL, Murray JC, Thomas MA. Jobling R, et al. Among authors: petrin al. Am J Med Genet A. 2011 Aug;155A(8):2008-10. doi: 10.1002/ajmg.a.34022. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739575 Free PMC article. No abstract available.
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: petrin al. 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.
Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).
Butali A, Suzuki S, Cooper ME, Mansilla AM, Cuenco K, Leslie EJ, Suzuki Y, Niimi T, Yamamoto M, Ayanga G, Erkhembaatar T, Furukawa H, Fujiwawa K, Imura H, Petrin AL, Natsume N, Beaty TH, Marazita ML, Murray JC. Butali A, et al. Among authors: petrin al. Am J Med Genet A. 2013 May;161A(5):965-72. doi: 10.1002/ajmg.a.35749. Epub 2013 Mar 5. Am J Med Genet A. 2013. PMID: 23463464 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: petrin a. Birth Defects Res. 2017 Jan 20;109(1):27-37. doi: 10.1002/bdra.23596. Birth Defects Res. 2017. PMID: 28029220 Free PMC article.
62 results