Macedo G - Search Results

1

A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.

Santin R, Vieira IA, Nunes JC, Benevides ML, Quadros F, Brusius-Facchin AC, Macedo G, Bertoni APS. Santin R, et al. Among authors: macedo g. Acta Myol. 2021 Jun 30;40(2):93-100. doi: 10.36185/2532-1900-048. eCollection 2021 Jun. Acta Myol. 2021. PMID: 34355126 Free PMC article.

2

p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers.

Macedo GS, Vieira IA, Vianna FSL, Alemar B, Giacomazzi J, Brandalize APC, Caleffi M, Volc SM, de Campos Reis Galvão H, Palmero EI, Achatz MI, Ashton-Prolla P. Macedo GS, et al. Fam Cancer. 2018 Apr;17(2):269-274. doi: 10.1007/s10689-017-0028-4. Fam Cancer. 2018. PMID: 28756477

3

TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling.

Bittar CM, Vieira IA, Sabato CS, Andreis TF, Alemar B, Artigalás O, Galvão HCR, Macedo GS, Palmero EI, Ashton-Prolla P. Bittar CM, et al. Fam Cancer. 2019 Oct;18(4):451-456. doi: 10.1007/s10689-019-00140-w. Fam Cancer. 2019. PMID: 31321604

4

MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers.

Bandeira IC, Vieira IA, Andreis TF, Brussa Reis L, Macedo GS, Vianna FSL, Santos-Silva P, Palmero EI, Galvão HCR, Ramos CRN, Santiago KM, Achatz MI, da Costa AABA, Ashton-Prolla P. Bandeira IC, et al. Cancer Genet. 2020 Jan;240:54-58. doi: 10.1016/j.cancergen.2019.11.005. Epub 2019 Nov 20. Cancer Genet. 2020. PMID: 31778928

5

Prevalence of the Brazilian TP53 Founder c.1010G>A (p.Arg337His) in Lung Adenocarcinoma: Is Genotyping Warranted in All Brazilian Patients?

Vieira IA, Andreis TF, Fernandes BV, Achatz MI, Macedo GS, Schramek D, Ashton-Prolla P. Vieira IA, et al. Front Genet. 2021 Feb 2;12:606537. doi: 10.3389/fgene.2021.606537. eCollection 2021. Front Genet. 2021. PMID: 33603772 Free PMC article.

6

Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil.

Matzenbacher Bittar C, de Araújo Rocha YM, Vieira IA, Rosset C, Andreis TF, Sartor ITS, Artigalás O, Netto CBO, Alemar B, Macedo GS, Ashton-Prolla P. Matzenbacher Bittar C, et al. PLoS One. 2021 Sep 16;16(9):e0251639. doi: 10.1371/journal.pone.0251639. eCollection 2021. PLoS One. 2021. PMID: 34529667 Free PMC article.

7

Exploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomas.

Vieira IA, Viola GD, Pezzi EH, Kowalski TW, Fernandes BV, Andreis TF, Bom N, Sonnenstrahl G, Rocha YMA, Corrêa BDS, Donatti LM, Sant'Anna GDS, Corleta HVE, Brum IS, Rosset C, Vianna FSL, Macedo GS, Palmero EI, Ashton-Prolla P. Vieira IA, et al. Among authors: macedo gs. Genet Mol Biol. 2024 Jan 19;46(3 Suppl 1):e20230133. doi: 10.1590/1678-4685-GMB-2023-0133. eCollection 2024. Genet Mol Biol. 2024. PMID: 38252059 Free PMC article.

8

Genetic profile of Brazilian patients with dystrophinopathies.

de Almeida PAD, Machado-Costa MC, Manzoli GN, Ferreira LS, Rodrigues MCS, Bueno LSM, Saute JAM, Pinto Vairo F, Matte US, Siebert M, Cossio SL, Macedo GS, Winckler PB, Becker MM, Magalhães LVB, Gonçalves MVM, Marrone CD, Nucci A, França MC Jr. de Almeida PAD, et al. Among authors: macedo gs. Clin Genet. 2017 Aug;92(2):199-203. doi: 10.1111/cge.12975. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28116794

9

Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.

Macedo GS, Araujo Vieira I, Brandalize AP, Giacomazzi J, Inez Palmero E, Volc S, Rodrigues Paixão-Côrtes V, Caleffi M, Silva Alves M, Achatz MI, Hainaut P, Ashton-Prolla P. Macedo GS, et al. Cancer Genet. 2016 Mar;209(3):97-106. doi: 10.1016/j.cancergen.2015.12.012. Epub 2016 Jan 7. Cancer Genet. 2016. PMID: 26823150

10

Analysis of Predictive Biomarkers in Patients With Lung Adenocarcinoma From Southern Brazil Reveals a Distinct Profile From Other Regions of the Country.

Andreis TF, Correa BS, Vianna FS, De-Paris F, Siebert M, Leistner-Segal S, Hahn EC, Ulbrich JM, Rivero LFR, De Oliveira FH, Lorandi V, Ashton-Prolla P, Macedo GS. Andreis TF, et al. J Glob Oncol. 2019 Sep;5:1-9. doi: 10.1200/JGO.19.00174. J Glob Oncol. 2019. PMID: 31532708 Free PMC article.

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