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2008 1
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13 results

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Page 1
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.
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. Among authors: fontes mi. Plast Surg Int. 2013;2013:641570. doi: 10.1155/2013/641570. Epub 2013 Mar 12. Plast Surg Int. 2013. PMID: 23577250 Free PMC article.
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
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. Among authors: fontes mi. 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
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. Among authors: fontes mi. 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
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Monteiro FP, Vieira TP, Sgardioli IC, Molck MC, Damiano AP, Souza J, Monlleó IL, Fontes MI, Fett-Conte AC, Félix TM, Leal GF, Ribeiro EM, Banzato CE, Dantas Cde R, Lopes-Cendes I, Gil-da-Silva-Lopes VL. Monteiro FP, et al. Among authors: fontes mi. Eur J Pediatr. 2013 Jul;172(7):927-45. doi: 10.1007/s00431-013-1964-0. Epub 2013 Feb 26. Eur J Pediatr. 2013. PMID: 23440478
13 results