| Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools SVN Pereira, JD Ribeiro, AF Ribeiro, CS Bertuzzo, FAL Marson Scientific Reports 9 (1), 6234, 2019 | 53 | 2019 |
| Association of clinical severity of cystic fibrosis with variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1 and SLC9A3) SVN Pereira, JD Ribeiro, CS Bertuzzo, FAL Marson Gene 629, 117-126, 2017 | 43 | 2017 |
| Extent of rescue of F508del-CFTR function by VX-809 and VX-770 in human nasal epithelial cells correlates with SNP rs7512462 in SLC26A9 gene in F508del/F508del Cystic Fibrosis … A Kmit, FAL Marson, SVN Pereira, AM Vinagre, GS Leite, MF Servidoni, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1865 (6 …, 2019 | 41 | 2019 |
| Interaction among variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1, and SLC9A3) and CFTR mutations with clinical markers of cystic fibrosis SVN Pereira, JD Ribeiro, CS Bertuzzo, FAL Marson Pediatric pulmonology 53 (7), 888-900, 2018 | 24 | 2018 |
| Oestrogenicity assessment of s-triazines by-products during ozonation SV Pereira, T Reis, BS Souza, RF Dantas, DA Azevedo, M Dezotti, ... Environmental technology 36 (12), 1538-1546, 2015 | 10 | 2015 |
| Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p. Phe508del homozygous) and its association to Orkambi®(Lumacaftor and Ivacaftor … LG Santos, SVN Pereira, AHP Kmit, LC Bonadia, CS Bertuzzo, JD Ribeiro, ... Gene 871, 147428, 2023 | 3 | 2023 |
| Impact of CFTR large deletions and insertions on the clinical and laboratory severity of cystic fibrosis: A serial case report LR Pereira, TM Lima, VF Melani, MF Mendes, SV Pereira, CS Bertuzzo, ... Pulmonology 28 (3), 235-238, 2022 | 3 | 2022 |
| ABCB1 variants (C1236T, rs1128503 and G2677T/A, rs2032582) do not show an association with recurrence and survival in patients with breast cancer undergoing anthracycline-based … RW Vencatto, S Ramalho, FAL Marson, LM Rezende, SVN Pereira, ... Meta Gene 21, 100596, 2019 | 2 | 2019 |
| Identificação de variantes no gene CFTR e nos genes ANO1, CLCN2, SCNN1A e SCNN1B e sua relação moduladora na fibrose cística SVN Pereira [sn], 2021 | | 2021 |
| Associação da gravidade clínica da fibrose cística com variantes na família de genes SLC (SLC26A9, SLC9A3, SLC6A14 e SLC11A1) SVN Pereira Dissertação, 2017 | | 2017 |
| Nasal obstruction: not only adenoid and turbinate hypertrophy M Breda, A Menezes, S Pereira, DP Silva, F Moreira, S Ramalho, ... | | 2016 |
| Clinical severity of Cystic Fibrosis conditioned by RS1800482 (-954g> C) polymorphism in the NOS2 gene SVN Pereira, CS Bertuzzo, AF Ribeiro, JD Ribeiro, FA de Lima Marson Pediatric pulmonology, 2016 | | 2016 |
| BBA-Molecular Basis of Disease LE Kuil, RK Chauhan, BM de Graaf, WW Cheng, NJM Kakiailatu, ... | | |
