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

Jornal de pediatria, 2019-07, Vol.95 (4), p.443-450

2019

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Classification of CFTR mutation classes

The lancet respiratory medicine, 2016-08, Vol.4 (8), p.e37-e38

2016

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Variants in the interleukin 8 gene and the response to inhaled bronchodilators in cystic fibrosis

Jornal de pediatria, 2017-11, Vol.93 (6), p.639-648

2017

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Thymidylate synthase gene (TYMS) polymorphisms in sporadic and hereditary breast cancer

BMC research notes, 2012-12, Vol.5 (1), p.676-676, Article 676

2012

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

Gene, 2017-09, Vol.629, p.117-126

2017

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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

Gene, 2023-06, Vol.871, p.147428-147428, Article 147428

2023

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

Gene, 2021-02, Vol.768, p.145304-145304, Article 145304

2021

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

Scientific reports, 2019-06, Vol.9 (1), p.8693-11, Article 8693

2019

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Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis

Gene, 2018-01, Vol.641, p.137-143

2018

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IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability

Human genetics, 2016-08, Vol.135 (8), p.881-894

2016

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Epidemiological and genetic characteristics associated with the severity of acute viral bronchiolitis by respiratory syncytial virus

Jornal de pediatria, 2013-11, Vol.89 (6), p.531-543

2013

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Genetic interaction of GSH metabolic pathway genes in cystic fibrosis

BMC medical genetics, 2013-06, Vol.14 (1), p.60-60, Article 60

2013

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Burkholderia cepacia complex in cystic fibrosis in a Brazilian reference center

Medical microbiology and immunology, 2017-12, Vol.206 (6), p.447-461

2017

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

Jornal de Pediatria (Versão em Português), 2019-07, Vol.95 (4), p.443-450

2019

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

Scientific reports, 2019-04, Vol.9 (1), p.6234-6234, Article 6234

2019

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Replication Timing Aberration of KIF14 and MDM4/PI3KC2β Alleles and Aneuploidy as Markers of Chromosomal Instability and Poor Treatment Response in Ewing Family Tumor Patients

Global medical genetics, 2023-06, Vol.10 (2), p.054-062

2023

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Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion

Arquivos de neuro-psiquiatria, 2001-06, Vol.59 (2-A), p.186-191

2001

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Preimplantation genetic diagnosis for cystic fibrosis: a case report

Einstein (São Paulo, Brazil), 2015-01, Vol.13 (1), p.110-113

2015

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Personalized Drug Therapy in Cystic Fibrosis: From Fiction to Reality

Current drug targets, 2015-01, Vol.16 (9), p.1007

2015

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Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital

Genes, 2022-07, Vol.13 (7), p.1252

2022

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Pancreatic Insufficiency in Cystic Fibrosis: Influence of Inflammatory Response Genes

Pancreas, 2018-01, Vol.47 (1), p.99-109

2018

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Prevalência da mutação ΔF508 no gene cystic fibrosis transmembrane conductance regulator em pacientes com fibrose cística em um centro de referência no Brasil

Jornal de pediatria, 2012-12, Vol.88 (6), p.531-534

2012

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

Classification of CFTR mutation classes

Variants in the interleukin 8 gene and the response to inhaled bronchodilators in cystic fibrosis

Thymidylate synthase gene (TYMS) polymorphisms in sporadic and hereditary breast cancer

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

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

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

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

Association between single nucleotide polymorphisms in TLR4, TLR2, TLR9, VDR, NOS2 and CCL5 genes with acute viral bronchiolitis

Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis

IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability

Epidemiological and genetic characteristics associated with the severity of acute viral bronchiolitis by respiratory syncytial virus

Genetic interaction of GSH metabolic pathway genes in cystic fibrosis

Burkholderia cepacia complex in cystic fibrosis in a Brazilian reference center

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

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

Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?

Erratum to: Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?

Replication Timing Aberration of KIF14 and MDM4/PI3KC2β Alleles and Aneuploidy as Markers of Chromosomal Instability and Poor Treatment Response in Ewing Family Tumor Patients

Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion

Preimplantation genetic diagnosis for cystic fibrosis: a case report

Personalized Drug Therapy in Cystic Fibrosis: From Fiction to Reality

Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital

Pancreatic Insufficiency in Cystic Fibrosis: Influence of Inflammatory Response Genes

Prevalência da mutação ΔF508 no gene cystic fibrosis transmembrane conductance regulator em pacientes com fibrose cística em um centro de referência no Brasil

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