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Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
de Souza GC, Malta MC, Santos MRS, Fontes MÍB, de Sousa Anjos JL, Ribeiro DP, Kok F, Figueiredo T. de Souza GC, et al. Among authors: fontes mib. Neurol Sci. 2024 Jun;45(6):2705-2710. doi: 10.1007/s10072-023-07271-0. Epub 2023 Dec 30. Neurol Sci. 2024. PMID: 38159148
Implementing the brazilian database on orofacial clefts.
Monlleó IL, Fontes MÍ, Ribeiro EM, de Souza J, Leal GF, Félix TM, Fett-Conte AC, Bueno BH, Magna LA, Mossey PA, Gil-da Silva-Lopes V. Monlleó IL, et al. Plast Surg Int. 2013;2013:641570. doi: 10.1155/2013/641570. Epub 2013 Mar 12. Plast Surg Int. 2013. PMID: 23577250 Free PMC article.
A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population.
de Araujo TK, Secolin R, Félix TM, de Souza LT, Fontes MÍ, Monlleó IL, de Souza J, Fett-Conte AC, Ribeiro EM, Xavier AC, de Rezende AA, Simioni M, Ribeiro-dos-Santos ÂK, dos Santos SE, Gil-da-Silva-Lopes VL. de Araujo TK, et al. J Craniomaxillofac Surg. 2016 Jan;44(1):16-20. doi: 10.1016/j.jcms.2015.07.026. Epub 2015 Aug 13. J Craniomaxillofac Surg. 2016. PMID: 26602496
Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate.
Araújo TK, Simioni M, Félix TM, de Souza LT, Fontes MÍ, Monlleó IL, Souza J, Fett-Conte AC, Secolin R, Lopes-Cendes I, Maurer-Morelli CV, Gil-da-Silva-Lopes VL. Araújo TK, et al. Plast Surg Int. 2012;2012:247104. doi: 10.1155/2012/247104. Epub 2012 Nov 27. Plast Surg Int. 2012. PMID: 23227324 Free PMC article.
Genomic imbalances in craniofacial microsomia.
Spineli-Silva S, Sgardioli IC, Dos Santos AP, Bergamini LL, Monlleó IL, Fontes MIB, Félix TM, Ribeiro EM, Xavier AC, Lustosa-Mendes E, Gil-da-Silva-Lopes VL, Vieira TP. Spineli-Silva S, et al. Among authors: fontes mib. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):970-985. doi: 10.1002/ajmg.c.31857. Epub 2020 Nov 20. Am J Med Genet C Semin Med Genet. 2020. PMID: 33215817 Review.
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Brusius-Facchin AC, Schwartz IV, Zimmer C, Ribeiro MG, Acosta AX, Horovitz D, Monlleó IL, Fontes MI, Fett-Conte A, Sobrinho RP, Duarte AR, Boy R, Mabe P, Ascurra M, de Michelena M, Tylee KL, Besley GT, Garreton MC, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Mol Genet Metab. 2014 Feb;111(2):133-8. doi: 10.1016/j.ymgme.2013.08.011. Epub 2013 Sep 1. Mol Genet Metab. 2014. PMID: 24125893
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