Suchergebnisse - "Bertuzzo, Carmen Sílvia"

PubPharm (88)

1

Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro

enthalten in: Gene | 2023

von Santos, L. | Pereira, S. | Kmit, A. | +5

2

Replication Timing Aberration of KIF14 and MDM4 / PI3KC 2 β Alleles and Aneuploidy as Markers of Chromosomal Instability and Poor Treatment Response in Ewing Family Tumor Patients

enthalten in: Global medical genetics | 2023

von Ayala, F. | Martin, J. | Bertuzzo, C.

3

Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital

enthalten in: Genes | 2022

von Toro, M. | Ribeiro, J. | Marson, F. | +5

4

Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis : unravelling regional discrepancies in the country

enthalten in: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2021

von da Silva Filho, L. | Maróstica, P. | Athanazio, R. | +84

5

Single nucleotide variants c.-13G → C (rs17429833) and c.108C → T (rs72466472) in the CLDN1 gene and increased risk for familial colorectal cancer

enthalten in: Gene | 2021

von Battagin, A. | Bertuzzo, C. | Carvalho, P. | +2

6

Clinical and Molecular Investigation of Familial Multiple Lipomatosis : Variants in the HMGA2 Gene

enthalten in: Clinical, cosmetic and investigational dermatology | 2020

von Mejía Granados, D. | de Baptista, M. | Bonadia, L. | +2

7

Chloride and sodium ion concentrations in saliva and sweat as a method to diagnose cystic fibrosis

enthalten in: Jornal de pediatria | 2019

von Gonçalves, A. | Marson, F. | Mendonça, R. | +5

8

Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil

enthalten in: Scientific reports | 2019

von Olm, M. | Marson, F. | Athanazio, R. | +11

9

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

enthalten in: Biochimica et biophysica acta. Molecular basis of disease | 2019

von Kmit, A. | Marson, F. | Pereira, S. | +7

10

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

enthalten in: Scientific reports | 2019

von Pereira, S. | Ribeiro, J. | Ribeiro, A. | +2

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