Stéphanie Villa-Nova Pereira

Publications

158

Citations

H-Index

2017

Active since

Affiliations

Universidade Estadual de Campinas (UNICAMP)(Current)

Stéphanie Villa-Nova Pereira is an author at Universidade Estadual de Campinas (UNICAMP) specializing in pathology, medicine, and molecular diagnostics.

Top concepts

MedicinePathologyAllergyFibrosisGeneticsGene ExpressionClinical GeneticsMolecular GeneticsMolecular MedicinePulmonary Fibrosis

Publications per year

2017–2019

Publications

Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools

Stéphanie Villa-Nova Pereira, José Dirceu Ribeiro, Antônio Fernando Ribeiro et al. · Scientific Reports · 2019 · 61 citations · Full text

Association of clinical severity of cystic fibrosis with variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1 and SLC9A3)

Stéphanie Villa-Nova Pereira, José Dirceu Ribeiro, Carmen Sílvia Bertuzzo et al. · Gene · 2017 · 43 citations

Mendelian Disorder, Genetic Disorder, Medicine +11

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 patients

Arthur Kmit, Fernando Augusto Lima Marson, Stéphanie Villa-Nova Pereira et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2019 · 35 citations

Fibrosis, F508del-cftr Function, Inflammatory Lung Disease +11

Interaction among variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1, and SLC9A3) and CFTR mutations with clinical markers of cystic fibrosis

Stéphanie Villa-Nova Pereira, José Dirceu Ribeiro, Carmen Sílvia Bertuzzo et al. · Pediatric Pulmonology · 2018 · 19 citations

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