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Page 1
SPECC1L regulates palate development downstream of IRF6.
Hall EG, Wenger LW, Wilson NR, Undurty-Akella SS, Standley J, Augustine-Akpan EA, Kousa YA, Acevedo DS, Goering JP, Pitstick L, Natsume N, Paroya SM, Busch TD, Ito M, Mori A, Imura H, Schultz-Rogers LE, Klee EW, Babovic-Vuksanovic D, Kroc SA, Adeyemo WL, Eshete MA, Bjork BC, Suzuki S, Murray JC, Schutte BC, Butali A, Saadi I. Hall EG, et al. Among authors: busch td. Hum Mol Genet. 2020 Mar 27;29(5):845-858. doi: 10.1093/hmg/ddaa002. Hum Mol Genet. 2020. PMID: 31943082 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: busch td. 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.
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.
Leslie EJ, Taub MA, Liu H, Steinberg KM, Koboldt DC, Zhang Q, Carlson JC, Hetmanski JB, Wang H, Larson DE, Fulton RS, Kousa YA, Fakhouri WD, Naji A, Ruczinski I, Begum F, Parker MM, Busch T, Standley J, Rigdon J, Hecht JT, Scott AF, Wehby GL, Christensen K, Czeizel AE, Deleyiannis FW, Schutte BC, Wilson RK, Cornell RA, Lidral AC, Weinstock GM, Beaty TH, Marazita ML, Murray JC. Leslie EJ, et al. Am J Hum Genet. 2015 Mar 5;96(3):397-411. doi: 10.1016/j.ajhg.2015.01.004. Epub 2015 Feb 19. Am J Hum Genet. 2015. PMID: 25704602 Free PMC article.
Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations.
Gowans LJ, Adeyemo WL, Eshete M, Mossey PA, Busch T, Aregbesola B, Donkor P, Arthur FK, Bello SA, Martinez A, Li M, Augustine-Akpan EA, Deressa W, Twumasi P, Olutayo J, Deribew M, Agbenorku P, Oti AA, Braimah R, Plange-Rhule G, Gesses M, Obiri-Yeboah S, Oseni GO, Olaitan PB, Abdur-Rahman L, Abate F, Hailu T, Gravem P, Ogunlewe MO, Buxó CJ, Marazita ML, Adeyemo AA, Murray JC, Butali A. Gowans LJ, et al. J Dent Res. 2016 Oct;95(11):1245-56. doi: 10.1177/0022034516657003. Epub 2016 Jul 1. J Dent Res. 2016. PMID: 27369588 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. Birth Defects Res. 2017 Jan 20;109(1):27-37. doi: 10.1002/bdra.23596. Birth Defects Res. 2017. PMID: 28029220 Free PMC article.
The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa.
Gowans LJ, Busch TD, Mossey PA, Eshete MA, Adeyemo WL, Aregbesola B, Donkor P, Arthur FK, Agbenorku P, Olutayo J, Twumasi P, Braimah R, Oti AA, Plange-Rhule G, Obiri-Yeboah S, Abate F, Hoyte-Williams PE, Hailu T, Murray JC, Butali A. Gowans LJ, et al. Among authors: busch td. Mol Genet Genomic Med. 2017 Jan 12;5(2):164-171. doi: 10.1002/mgg3.273. eCollection 2017 Mar. Mol Genet Genomic Med. 2017. PMID: 28361103 Free PMC article.
Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.
Eshete MA, Liu H, Li M, Adeyemo WL, Gowans LJJ, Mossey PA, Busch T, Deressa W, Donkor P, Olaitan PB, Aregbesola BS, Braimah RO, Oseni GO, Oginni F, Audu R, Onwuamah C, James O, Augustine-Akpan E, Rahman LA, Ogunlewe MO, Arthur FKN, Bello SA, Agbenorku P, Twumasi P, Abate F, Hailu T, Demissie Y, Hailu A, Plange-Rhule G, Obiri-Yeboah S, Dunnwald MM, Gravem PE, Marazita ML, Adeyemo AA, Murray JC, Cornell RA, Butali A. Eshete MA, et al. J Dent Res. 2018 Jan;97(1):41-48. doi: 10.1177/0022034517729819. Epub 2017 Sep 8. J Dent Res. 2018. PMID: 28886269 Free PMC article.
Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate.
Gowans LJJ, Oseni G, Mossey PA, Adeyemo WL, Eshete MA, Busch TD, Donkor P, Obiri-Yeboah S, Plange-Rhule G, Oti AA, Owais A, Olaitan PB, Aregbesola BS, Oginni FO, Bello SA, Audu R, Onwuamah C, Agbenorku P, Ogunlewe MO, Abdur-Rahman LO, Marazita ML, Adeyemo AA, Murray JC, Butali A. Gowans LJJ, et al. Among authors: busch td. Cleft Palate Craniofac J. 2018 May;55(5):736-742. doi: 10.1177/1055665618754948. Epub 2018 Feb 28. Cleft Palate Craniofac J. 2018. PMID: 29489415 Free PMC article.
43 results