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Page 1
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.
Kokitsu-Nakata NM, Petrin AL, Heard JP, Vendramini-Pittoli S, Henkle LE, dos Santos DV, Murray JC, Richieri-Costa A. Kokitsu-Nakata NM, et al. Among authors: petrin al. Am J Med Genet A. 2012 Aug;158A(8):2003-8. doi: 10.1002/ajmg.a.35454. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740433 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.
Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes.
Carlson JC, Standley J, Petrin A, Shaffer JR, Butali A, Buxó CJ, Castilla E, Christensen K, Deleyiannis FW, Hecht JT, Field LL, Garidkhuu A, Moreno Uribe LM, Nagato N, Orioli IM, Padilla C, Poletta F, Suzuki S, Vieira AR, Wehby GL, Weinberg SM, Beaty TH, Feingold E, Murray JC, Marazita ML, Leslie EJ. Carlson JC, et al. Among authors: petrin a. Genet Epidemiol. 2017 Dec;41(8):887-897. doi: 10.1002/gepi.22090. Epub 2017 Nov 10. Genet Epidemiol. 2017. PMID: 29124805 Free PMC article.
Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A. Alade AA, et al. Among authors: petrin a. Mol Genet Genomic Med. 2020 Aug;8(8):e1355. doi: 10.1002/mgg3.1355. Epub 2020 Jun 17. Mol Genet Genomic Med. 2020. PMID: 32558391 Free PMC article. Review.
Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).
Gowans LJJ, Comnick CL, Mossey PA, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Petrin A, Adeleke C, Donkor P, Busch TD, James O, Ogunlewe MO, Li M, Olotu J, Hassan M, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Agbenorku P, Oti AA, Olatosi O, Adamson OO, Fashina AA, Zeng E, Marazita ML, Adeyemo AA, Murray JC, Butali A. Gowans LJJ, et al. Among authors: petrin a. Cleft Palate Craniofac J. 2022 Jul;59(7):841-851. doi: 10.1177/10556656211036316. Epub 2021 Aug 12. Cleft Palate Craniofac J. 2022. PMID: 34382870 Free PMC article.
Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus.
Awotoye W, Comnick C, Pendleton C, Zeng E, Alade A, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Adeleke C, Busch T, Li M, Petrin A, Olotu J, Hassan M, Pape J, Miller SE, Donkor P, Anand D, Lachke SA, Marazita ML, Adeyemo AA, Murray JC, Albokhari D, Sobreira N, Butali A. Awotoye W, et al. Among authors: petrin a. J Dent Res. 2022 Apr;101(4):465-472. doi: 10.1177/00220345211046614. Epub 2021 Oct 23. J Dent Res. 2022. PMID: 34689653 Free PMC article.
Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.
Petrin AL, Machado-Paula LA, Hinkle A, Hovey L, Awotoye W, Chimenti M, Darbro B, Ribeiro-Bicudo LA, Dabdoub SM, Peter T, Breheny P, Murray J, Van Otterloo E, Rengasamy Venugopalan S, Moreno-Uribe LM. Petrin AL, et al. medRxiv [Preprint]. 2024 Jul 15:2024.02.07.24301824. doi: 10.1101/2024.02.07.24301824. medRxiv. 2024. PMID: 38370836 Free PMC article. Preprint.
DNA Methylation Effects on Van der Woude Syndrome Phenotypic Variability.
Seaberg A, Awotoye W, Qian F, Machado-Paula LA, Dunlay L, Butali A, Murray J, Moreno-Uribe L, Petrin AL. Seaberg A, et al. Among authors: petrin al. Cleft Palate Craniofac J. 2024 Aug 7:10556656241269495. doi: 10.1177/10556656241269495. Online ahead of print. Cleft Palate Craniofac J. 2024. PMID: 39109995
64 results