Thaiane Rispoli

Bento Gonçalves Avenue 9500
Porto Alegre, RS 91501970, Brazil

Last Updated: 09/26/2026

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Found 9 publications

SARS-CoV-2 laboratory surveillance during the first year of the COVID-19 pandemic in southern Brazil.

SARS-CoV-2 laboratory surveillance during the first year of the COVID-19 pandemic in southern Brazil.

Journal: Revista da Sociedade Brasileira de Medicina Tropical

Published: April 06, 2022

Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.

Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.

Journal: International journal of molecular sciences

Published: December 07, 2021

Cystic Fibrosis: Systems Biology Analysis from Homozygous p.Phe508del Variant Patients' Samples Reveals Perturbations in Tissue-Specific Pathways.

Cystic Fibrosis: Systems Biology Analysis from Homozygous p.Phe508del Variant Patients' Samples Reveals Perturbations in Tissue-Specific Pathways.

Journal: BioMed research international

Published: October 10, 2021

Novel frameshift variant of the CFTR gene: S511Lfs*2 from phenotype to molecular predictions.

Novel frameshift variant of the CFTR gene: S511Lfs*2 from phenotype to molecular predictions.

Journal: Molecular biology reports

Published: March 27, 2020

Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns.

Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns.

Journal: Molecular diagnosis & therapy

Published: March 19, 2020

False-negative newborn screening result for immunoreactive trypsinogen: a major problem in children with chronic lung disease.

False-negative newborn screening result for immunoreactive trypsinogen: a major problem in children with chronic lung disease.

Journal: Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia

Published: July 05, 2019

A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System.

A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System.

Journal: The Journal of pediatrics

Published: October 20, 2017

Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.

Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.

Journal: Molecular diagnosis & therapy

Published: August 19, 2017

Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.

Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.

Journal: Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia

Published: August 12, 2017

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Last Updated: 09/26/2026