List of works - Carmen Sílvia Bertuzzo

APC germline mutations in families with familial adenomatous polyposis.

scientific article published on 21 August 2013

Association between alpha 1 antitrypsin deficiency and cystic fibrosis severity

scientific article published on 01 November 2005

Association between the IVS4G>T mutation in the TCF7L2 gene and susceptibility to diabetes in cystic fibrosis patients

scientific article

Association of TGF-beta1, CD14, IL-4, IL-4R and ADAM33 gene polymorphisms with asthma severity in children and adolescents

scientific article

Asthma: Gln27Glu and Arg16Gly polymorphisms of the beta2-adrenergic receptor gene as risk factors.

scientific article published on 05 February 2014

CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease.

scientific article published on 26 February 2014

Classification of CFTR mutation classes

scientific article published on 01 July 2016

Cystic Fibrosis in Adults

scientific article published on 09 February 2007

Cystic fibrosis at a Brazilian center of excellence: clinical and laboratory characteristics of 104 patients and their association with genotype and disease severity

article

Cystic fibrosis transmembrane conductance regulator gene mutations and glutathione S-transferase null genotypes in cystic fibrosis patients in Brazil

scientific article

Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis.

scientific article

Determination of alpha 1-antitrypsin levels and of the presence of S and Z alleles in a population of patients with chronic respiratory symptoms.

scientific article published in December 2008

Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib

scientific article published on 8 November 2013

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

scientific article published on 12 September 2013

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

article

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?

scientific article published on 27 February 2017

Genetic interaction of GSH metabolic pathway genes in cystic fibrosis

scientific article

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

scientific article published on 21 May 2016

Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.

scientific article

Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21.

scientific article

Molecular screening of CFTR gene in Brazilian men with bilateral agenesis of the vas deferens

article

Nasal potential difference in cystic fibrosis considering severe CFTR mutations

scientific article

Polymorphisms in methylenetetrahydrofolate reductase gene (MTHFR) and the age of onset of sporadic colorectal adenocarcinoma

scientific article

Preimplantation genetic diagnosis for cystic fibrosis: a case report

scientific article published on January 2015

Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center.

scientific article

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?

scientific article published on 26 October 2016

SLC23A2-05 (rs4987219) and KRAS-LCS6 (rs61764370) polymorphisms in patients with squamous cell carcinoma of the head and neck

scientific article

Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis.

scientific article

Taxa de infecção e sorotipos de Streptococcus agalactiae em amostras de recém-nascidos infectados na cidade de Campinas (SP), Brasil

scientific article published on 01 December 2012

The ACE gene D/I polymorphism as a modulator of severity of cystic fibrosis.

scientific article

Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients

article

Variants of estrogen receptor alpha and beta genes modify the severity of sporadic breast cancer.

scientific article published on 18 January 2017

List of works by Carmen Sílvia Bertuzzo

APC germline mutations in families with familial adenomatous polyposis.

Association between alpha 1 antitrypsin deficiency and cystic fibrosis severity

Association between the IVS4G>T mutation in the TCF7L2 gene and susceptibility to diabetes in cystic fibrosis patients

Association of TGF-beta1, CD14, IL-4, IL-4R and ADAM33 gene polymorphisms with asthma severity in children and adolescents

Asthma: Gln27Glu and Arg16Gly polymorphisms of the beta2-adrenergic receptor gene as risk factors.

CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease.

Classification of CFTR mutation classes

Cystic Fibrosis in Adults

Cystic fibrosis at a Brazilian center of excellence: clinical and laboratory characteristics of 104 patients and their association with genotype and disease severity

Cystic fibrosis transmembrane conductance regulator gene mutations and glutathione S-transferase null genotypes in cystic fibrosis patients in Brazil

Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis.

Determination of alpha 1-antitrypsin levels and of the presence of S and Z alleles in a population of patients with chronic respiratory symptoms.

Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib

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

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

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?

Genetic interaction of GSH metabolic pathway genes in cystic fibrosis

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

Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.

Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21.

Molecular screening of CFTR gene in Brazilian men with bilateral agenesis of the vas deferens

Nasal potential difference in cystic fibrosis considering severe CFTR mutations

Polymorphisms in methylenetetrahydrofolate reductase gene (MTHFR) and the age of onset of sporadic colorectal adenocarcinoma

Preimplantation genetic diagnosis for cystic fibrosis: a case report

Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center.

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?

SLC23A2-05 (rs4987219) and KRAS-LCS6 (rs61764370) polymorphisms in patients with squamous cell carcinoma of the head and neck

Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis.

Taxa de infecção e sorotipos de Streptococcus agalactiae em amostras de recém-nascidos infectados na cidade de Campinas (SP), Brasil

The ACE gene D/I polymorphism as a modulator of severity of cystic fibrosis.

Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients

Variants of estrogen receptor alpha and beta genes modify the severity of sporadic breast cancer.