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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
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.
Brusius-Facchin AC, Abrahão L, Schwartz IV, Lourenço CM, Santos ES, Zanetti A, Tomanin R, Scarpa M, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Gene. 2013 Sep 10;526(2):150-4. doi: 10.1016/j.gene.2013.05.007. Epub 2013 May 21. Gene. 2013. PMID: 23707223
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
Borsatto T, Sperb-Ludwig F, Pinto LL, Luca GR, Carvalho FL, Souza CF, Medeiros PF, Lourenço CM, Lo Filho R, Neto EC, Bernardi P, Leistner-Segal S, Schwartz IV. Borsatto T, et al. BMC Med Genet. 2014 Sep 1;15:96. doi: 10.1186/s12881-014-0096-3. BMC Med Genet. 2014. PMID: 25174816 Free PMC article.
Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.
Kubaski F, Yabe H, Suzuki Y, Seto T, Hamazaki T, Mason RW, Xie L, Onsten TGH, Leistner-Segal S, Giugliani R, Dũng VC, Ngoc CTB, Yamaguchi S, Montaño AM, Orii KE, Fukao T, Shintaku H, Orii T, Tomatsu S. Kubaski F, et al. Biol Blood Marrow Transplant. 2017 Oct;23(10):1795-1803. doi: 10.1016/j.bbmt.2017.06.020. Epub 2017 Jul 1. Biol Blood Marrow Transplant. 2017. PMID: 28673849 Free PMC article.
TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients.
Hahn EC, Bittar CM, Vianna FSL, Netto CBO, Biazús JV, Cericatto R, Cavalheiro JA, de Melo MP, Menke CH, Rabin E, Leistner-Segal S, Ashton-Prolla P. Hahn EC, et al. PLoS One. 2018 Dec 31;13(12):e0209934. doi: 10.1371/journal.pone.0209934. eCollection 2018. PLoS One. 2018. PMID: 30596752 Free PMC article. Clinical Trial.
Methylation of BDNF and SLC6A4 Gene Promoters in Brazilian Patients With Temporal Lobe Epilepsy Presenting or Not Psychiatric Comorbidities.
Bandeira IC, Giombelli L, Werlang IC, Abujamra AL, Secchi TL, Brondani R, Bragatti JA, Bizzi JWJ, Leistner-Segal S, Bianchin MM. Bandeira IC, et al. Among authors: leistner segal s. Front Integr Neurosci. 2021 Nov 29;15:764742. doi: 10.3389/fnint.2021.764742. eCollection 2021. Front Integr Neurosci. 2021. PMID: 34912196 Free PMC article.
80 results