about
SLC23A2-05 (rs4987219) and KRAS-LCS6 (rs61764370) polymorphisms in patients with squamous cell carcinoma of the head and neckScreening for F508del as a first step in the molecular diagnosis of cystic fibrosis.Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis.The ACE gene D/I polymorphism as a modulator of severity of cystic fibrosis.Association between the IVS4G>T mutation in the TCF7L2 gene and susceptibility to diabetes in cystic fibrosis patientsMeasurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.Genetic interaction of GSH metabolic pathway genes in cystic fibrosisNasal potential difference in cystic fibrosis considering severe CFTR mutations.Preimplantation genetic diagnosis for cystic fibrosis: a case reportQuality 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?Asthma: Gln27Glu and Arg16Gly polymorphisms of the beta2-adrenergic receptor gene as risk factors.Epidemiological and genetic characteristics associated with the severity of acute viral bronchiolitis by respiratory syncytial virus.CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease.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?Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and IbCystic fibrosis transmembrane conductance regulator gene mutations and glutathione S-transferase null genotypes in cystic fibrosis patients in Brazil.Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center.APC germline mutations in families with familial adenomatous polyposis.Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21.Variants of estrogen receptor alpha and beta genes modify the severity of sporadic breast cancer.Determination of alpha 1-antitrypsin levels and of the presence of S and Z alleles in a population of patients with chronic respiratory symptoms.Association of TGF-beta1, CD14, IL-4, IL-4R and ADAM33 gene polymorphisms with asthma severity in children and adolescents.Polymorphisms in methylenetetrahydrofolate reductase gene (MTHFR) and the age of onset of sporadic colorectal adenocarcinoma.Erratum to: IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variabilityClassification of CFTR mutation classesTaxa de infecção e sorotipos de Streptococcus agalactiae em amostras de recém-nascidos infectados na cidade de Campinas (SP), BrasilCystic Fibrosis in AdultsThree novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patientsMolecular screening of CFTR gene in Brazilian men with bilateral agenesis of the vas deferensAssociation between alpha 1 antitrypsin deficiency and cystic fibrosis severityCystic fibrosis at a Brazilian center of excellence: clinical and laboratory characteristics of 104 patients and their association with genotype and disease severity
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P50
description
hulumtuese
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onderzoeker
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researcher
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հետազոտող
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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Carmen Sílvia Bertuzzo
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P106
P1153
6602602840
P21
P31
P496
0000-0002-2813-2887