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109 results

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A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity.
Artigalás O, Paskulin G, Riegel M, Burin M, Saraiva-Pereira ML, Maluf S, Kiss A, Schwartz IV. Artigalás O, et al. Among authors: burin m. Genet Mol Biol. 2012 Apr;35(2):424-7. doi: 10.1590/S1415-47572012000300007. Epub 2012 Jun 23. Genet Mol Biol. 2012. PMID: 22888290 Free PMC article.
Population medical genetics: translating science to the community.
Giugliani R, Bender F, Couto R, Bochernitsan A, Brusius-Facchin AC, Burin M, Amorim T, Acosta AX, Purificação A, Leistner-Segal S, Saraiva-Pereira ML, Jardim LB, Matte U, Riegel M, Cardoso-Dos-Santos AC, Rodrigues G, Oliveira MZ, Tagliani-Ribeiro A, Heck S, Dresch V, Schuler-Faccini L, Kubaski F. Giugliani R, et al. Among authors: burin m. Genet Mol Biol. 2019;42(1 suppl 1):312-320. doi: 10.1590/1678-4685-GMB-2018-0096. Epub 2019 Apr 11. Genet Mol Biol. 2019. PMID: 30985854 Free PMC article.
Diagnostic and treatment strategies in mucopolysaccharidosis VI.
Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, Giugliani R. Vairo F, et al. Among authors: burin m. Appl Clin Genet. 2015 Oct 30;8:245-55. doi: 10.2147/TACG.S68650. eCollection 2015. Appl Clin Genet. 2015. PMID: 26586959 Free PMC article. Review.
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.
Alegra T, Koppe T, Acosta A, Sarno M, Burin M, Kessler RG, Sperb-Ludwig F, Cury G, Baldo G, Matte U, Giugliani R, Schwartz IV. Alegra T, et al. Among authors: burin m. Meta Gene. 2014 Jun 1;2:403-6. doi: 10.1016/j.mgene.2014.03.003. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606425 Free PMC article.
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.
de Camargo Pinto LL, Maluf SW, Leistner-Segal S, Zimmer da Silva C, Brusius-Facchin A, Burin MG, Brustolin S, Llerena J, Moraes L, Vedolin L, Schuch A, Giugliani R, Schwartz IV. de Camargo Pinto LL, et al. Am J Med Genet A. 2011 Jan;155A(1):50-7. doi: 10.1002/ajmg.a.33770. Am J Med Genet A. 2011. PMID: 21204210
Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.
Ribas GS, Souza HM, de Mari J, Deon M, Mescka C, Saraiva-Pereira ML, Kessler R, Trapp F, Michelin K, Burin M, Vargas CR, Giugliani R. Ribas GS, et al. Among authors: burin m. Clin Chim Acta. 2016 Aug 1;459:57-62. doi: 10.1016/j.cca.2016.05.015. Epub 2016 May 24. Clin Chim Acta. 2016. PMID: 27234403 Free article. No abstract available.
109 results