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34 results

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Page 1
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: monlleo il. 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 clinical study of 77 patients with mucopolysaccharidosis type II.
Schwartz IV, Ribeiro MG, Mota JG, Toralles MB, Correia P, Horovitz D, Santos ES, Monlleo IL, Fett-Conte AC, Sobrinho RP, Norato DY, Paula AC, Kim CA, Duarte AR, Boy R, Valadares E, De Michelena M, Mabe P, Martinhago CD, Pina-Neto JM, Kok F, Leistner-Segal S, Burin MG, Giugliani R. Schwartz IV, et al. Among authors: monlleo il. Acta Paediatr. 2007 Apr;96(455):63-70. doi: 10.1111/j.1651-2227.2007.00212.x. Acta Paediatr. 2007. PMID: 17391446
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. Among authors: monlleo il. Plast Surg Int. 2012;2012:247104. doi: 10.1155/2012/247104. Epub 2012 Nov 27. Plast Surg Int. 2012. PMID: 23227324 Free PMC article.
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: monlleo il. 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
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.
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
Fontes MI, Santos AP, Molck MC, Simioni M, Nascimento DL, Andrade AK, Rosenberg C, Krepischi AC, Appenzeller S, Monlleó IL, Gil-da-Silva-Lopes VL. Fontes MI, et al. Among authors: monlleo il. Am J Med Genet A. 2016 Mar;170(3):766-72. doi: 10.1002/ajmg.a.37494. Epub 2015 Dec 7. Am J Med Genet A. 2016. PMID: 26638882 Review.
Study of IRF6 and 8q24 region in non-syndromic oral clefts in the Brazilian population.
de Souza LT, Kowalski TW, Ferrari J, Monlléo IL, Ribeiro EM, de Souza J, Fett-Conte AC, de Araujo TK, Gil-da-Silva-Lopes VL, Ribeiro-Dos-Santos ÂK, dos Santos SE, Félix TM. de Souza LT, et al. Among authors: monlleo il. Oral Dis. 2016 Apr;22(3):241-5. doi: 10.1111/odi.12432. Epub 2016 Feb 1. Oral Dis. 2016. PMID: 26714022
Identification of genomic imbalances in oral clefts.
Lustosa-Mendes E, Santos APD, Vieira TP, Ribeiro EM, Rezende AA, Fett-Conte AC, Cavalcanti DP, Félix TM, Monlleó IL, Gil-da-Silva-Lopes VL. Lustosa-Mendes E, et al. Among authors: monlleo il. J Pediatr (Rio J). 2021 May-Jun;97(3):321-328. doi: 10.1016/j.jped.2020.06.005. Epub 2020 Jul 21. J Pediatr (Rio J). 2021. PMID: 32707036 Free PMC article.
34 results