C. Bertuzzo

Sergio Santos Muhlen, H. Hernández-Figueroa, C. Bertuzzo, 2011, 2011 SBMO/IEEE MTT-S International Microwave and Optoelectronics Conference (IMOC 2011).

The IFRD1 (57460C>T Polymorphism) Gene: A Negative Report in Cystic Fibrosis Clinical Severity

C. Bertuzzo, A. Ribeiro, L. M. Rezende, 2013 .

Glutathione S-transferase mu 1 (GSTM1) and theta 1 (GSTT1) genetic polymorphisms and atopic asthma in children from Southeastern Brazil

J. Ribeiro, C. Lima, G. Lourenço, 2010, Genetics and molecular biology.

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

F. Marson, C. Bertuzzo, J. Junior, 2012, BMC Research Notes.

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

J. Ribeiro, A. A. Toro, C. Bertuzzo, 2008, Jornal de pediatria.

Association of TGF-β 1 , CD 14 , IL-4 , IL-4 R and ADAM 33 gene polymorphisms with asthma severity in children and adolescents

J. Ribeiro, A. A. Toro, Isabel Faria, 2008 .

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

J. Ribeiro, F. Marson, C. Bertuzzo, 2013, Jornal de pediatria.

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

H. G. Serra, C. Bertuzzo, I. Paschoal, 2008, Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia.

ADIPOR2 Polymorphisms in Cystic Fibrosis are Potential Modifiers of Clinical Severity

J. Ribeiro, C. Bertuzzo, Fern, 2014 .

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

J. Ribeiro, F. Marson, S. V. Pereira, 2017, Gene.

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

J. Ribeiro, F. Marson, C. Bertuzzo, 2017, Jornal de pediatria.

[Association between alpha 1 antitrypsin deficiency and cystic fibrosis severity].

J. Ribeiro, C. Bertuzzo, A. E. Alvarez, 2005, Jornal de pediatria.

Classification of CFTR mutation classes.

J. Ribeiro, F. Marson, C. Bertuzzo, 2016, The Lancet. Respiratory medicine.

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

H. Omran, Marcus H. Jones, R. Stelmach, 2019, Scientific Reports.

Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital

Marcus H. Jones, J. Ribeiro, E. Sakano, 2022, Genes.

Personalized or Precision Medicine? The Example of Cystic Fibrosis

J. Ribeiro, F. Marson, C. Bertuzzo, 2017, Front. Pharmacol..

Genetic interaction of GSH metabolic pathway genes in cystic fibrosis

R. Secolin, J. Ribeiro, F. Marson, 2013, BMC Medical Genetics.

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

A. M. D. DE Tommaso, C. Bertuzzo, C. Steiner, 2013, Genetics and molecular biology.

Nasal Potential Difference in Cystic Fibrosis considering Severe CFTR Mutations

J. Ribeiro, M. A. Ribeiro, E. Sakano, 2015, Disease markers.

Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study

J. Ribeiro, F. Marson, C. Bertuzzo, 2014, BMC Medical Genetics.

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

J. Ribeiro, F. Marson, C. Levy, 2019, Jornal de pediatria.

Hematological phenotype and the type of beta thalassemia mutation in Brazil

Fernando Ferreira Costa, Carmen Silvia Bertuzzo, M. F Sonati, 1997 .

[Estimation of the frequency of Hereditary Persistence of Fetal Hemoglobin in Brazil].

C. Bertuzzo, N. Polimeno, V. M. D. Costa, 2002, Cadernos de saude publica.

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

L. Bonadia, C. Bertuzzo, C. Steiner, 2020, Clinical, cosmetic and investigational dermatology.

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.

M. Amaral, J. Ribeiro, F. Marson, 2019, Biochimica et biophysica acta. Molecular basis of disease.

Can MTHFR C677T and A1298C Polymorphisms Alter the Risk and Severity of Sporadic Breast Cancer in Brazilian Women?

F. Marson, C. Lima, C. Bertuzzo, 2017, Clinical breast cancer.

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

R. Secolin, J. Ribeiro, C. Lima, 2014, Oncology letters.

Measurements of CFTR-Mediated Cl− Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis

M. Amaral, A. Ramalho, K. Kunzelmann, 2012, PloS one.

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

M. Amaral, B. Ziegler, C. Castelletti, 2020, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

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

J. Ribeiro, F. Marson, C. Bertuzzo, 2016, Human Genetics.

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

J. Ribeiro, F. Marson, C. Bertuzzo, 2016, Human Genetics.

XI SOLANEP International Congress / XV Cystic Fibrosis Latinamerican Congress / XV Brazilian Congress of Pediatric Pulmonology

R. Mattiello, L. Pinto, J. Ribeiro, 2016, Pediatric pulmonology.

APC germline mutations in families with familial adenomatous polyposis.

J. Ribeiro, C. Coy, C. Bertuzzo, 2013, Oncology reports.

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

J. Ribeiro, F. Marson, C. Bertuzzo, 2018, Gene.

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

F. Costa, C. Coy, L. Bonadia, 2007, International Journal of Colorectal Disease.

Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease.

A M De Tommaso, C L Rossi, C A Escanhoela, 2001, Arquivos de gastroenterologia.

The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read‐through therapies in cystic fibrosis

Nikhil T. Awatade, L. Clarke, M. Amaral, 2018, Human mutation.

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

J. Ribeiro, G. Hessel, C. Bertuzzo, 2004, Jornal de Pediatria.

Burkholderia cepacia complex in cystic fibrosis in a Brazilian reference center

J. Ribeiro, L. Bonadia, F. Marson, 2017, Medical Microbiology and Immunology.

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

J. Ribeiro, L. Bonadia, C. Bertuzzo, 2014, Gene.

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

J. Ribeiro, F. Marson, C. Bertuzzo, 2014, Allergy, Asthma & Clinical Immunology.

TNF-alpha polymorphisms as a potential modifier gene in the cystic fibrosis.

J. Ribeiro, F. Marson, L. Bonadia, 2014, International journal of molecular epidemiology and genetics.

ADRA2A IS A CYSTIC FIBROSIS MODIFIER GENE

J. Ribeiro, C. Bertuzzo, A. Ribeiro, 2013 .

COX-2 GENE POLYMORPHISMS: GENETIC DETERMINANTS OF CYSTIC FIBROSIS COMORBIDITIES

J. Ribeiro, C. Bertuzzo, A. Ribeiro, 2013 .

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

F. Marson, C. Bertuzzo, A. Ribeiro, 2012, BMC Research Notes.

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

J. Ribeiro, F. Marson, C. Bertuzzo, 2013, Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia.

Estudo de polimorfismos nos genes TCF7L2 e ADRA2A associados à gravidade clínica da fibrose cística = Study of polymorphisms in ADRA2A and TCF7L2 genes associated with clinical gravity of cystic fibrosis

C. Bertuzzo, Daniela Tenório Furgeri, 2013 .

A negative screening of rare genetic variants in the ADIPOQ and STATH genes in cystic fibrosis.

J. Ribeiro, F. Marson, C. Bertuzzo, 2020, Pulmonology.

[Mutations in the methylene-tetrahydrofolate reductase gene and Down syndrome].

Ricardo Barini, Laura Brunelli das Neves Grillo, Gregório Lorenzo Acácio, 2002, Cadernos de saude publica.

Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals

L. Bonadia, S. Lemos-Marini, C. Bertuzzo, 2006 .

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

F. Marson, C. Bertuzzo, A. Bieger, 2012, Jornal de pediatria.

Association Between C1236T (rs1128503) Variant in ABCB1 Gene and Breast Cancer Recurrence

L. Bonadia, F. Marson, C. Lima, 2018, Clinical Cancer Drugs.

ABCB1 variants (C1236T, rs1128503 and G2677T/A, rs2032582) do not show an association with recurrence and survival in patients with breast cancer undergoing anthracycline-based chemotherapy

L. Bonadia, F. Marson, C. Lima, 2019, Meta Gene.

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

F. Ayala, C. Bertuzzo, J. Martin, 2023, Global Medical Genetics.

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

J. Ribeiro, F. Marson, S. V. Pereira, 2019, Scientific Reports.

Impact of CFTR large deletions and insertions on the clinical and laboratory severity of cystic fibrosis: a serial case report.

F. Marson, S. V. Pereira, C. Bertuzzo, 2021, Pulmonology.

Molecular diagnosis of Huntington disease in Brazilian patients.

Í. Lopes-Cendes, H. G. Serra, C. Bertuzzo, 2000, Arquivos de neuro-psiquiatria.

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

M. Ortega, F. Marson, C. Bertuzzo, 2020, Gene.

Step by Step Progress Towards Genetic Knowledge of Prostate Cancer

J. Ribeiro, F. Marson, C. Bertuzzo, 2015 .

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

F. Costa, V. Arruda, J. Annichino-Bizzacchi, 2007, Journal of Human Genetics.

Preimplantation genetic diagnosis for cystic fibrosis: a case report

C. Bertuzzo, C. Suganuma, L. S. Fujihara, 2015, Einstein.

Preimplantation genetic diagnosis for cystic fibrosis: a case report Diagnóstico genético pré-implantacional na fibrose cística: relato de caso

C. Bertuzzo, C. Suganuma, L. S. Fujihara, 2015 .

Asthma: How, When and Why to "Draw" the Genetic Backgrounds. The Interaction between the Enthusiasm of Researchers and the Low Clinical Application

J. Ribeiro, C. Bertuzzo, 2014 .

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

J. Ribeiro, M. A. Ribeiro, F. Marson, 2013, Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia.

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

F. Marson, C. Bertuzzo, A. Ribeiro, 2012, BMC Research Notes.

Molecular characterisation of cystic fibrosis patients in the state of São Paulo (Brazil)

E. Parizotto, C. Bertuzzo, 1997, Journal of medical genetics.

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?

Lucas Brioschi Morais, J. Ribeiro, G. Hessel, 2016, Diagnostic Pathology.

Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion.

C. Bertuzzo, B. Pfeilsticker, Anamarli Nucci, 2001, Arquivos de neuro-psiquiatria.

Hb Camperdown [α2β2104(G6)ARG → SER] Identified by DNA Analysis in a Brazilian Family

F. Costa, S. Miranda, C. Bertuzzo, 1996 .