Search Results - "Carmen S. Bertuzzo"

Personalized or Precision Medicine? The Example of Cystic Fibrosis by Marson, Fernando A L, Bertuzzo, Carmen S, Ribeiro, José D

“…The advent of the knowledge on human genetics, by the identification of disease-associated variants, culminated in the understanding of human variability. With…”
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Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis by Sousa, Marisa, Servidoni, Maria F, Vinagre, Adriana M, Ramalho, Anabela S, Bonadia, Luciana C, Felício, Verónica, Ribeiro, Maria A, Uliyakina, Inna, Marson, Fernando A, Kmit, Arthur, Cardoso, Silvia R, Ribeiro, José D, Bertuzzo, Carmen S, Sousa, Lisete, Kunzelmann, Karl, Ribeiro, Antônio F, Amaral, Margarida D

“…Cystic Fibrosis (CF) is caused by ∼1,900 mutations in the CF transmembrane conductance regulator (CFTR) gene encoding for a cAMP-regulated chloride (Cl(-))…”
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Polymorphisms in ADRB2 gene can modulate the response to bronchodilators and the severity of cystic fibrosis by Marson, Fernando A L, Bertuzzo, Carmen S, Ribeiro, Antônio F, Ribeiro, José D

“…The most common cystic fibrosis (CF) manifestation is the progressive chronic obstructive pulmonary disease caused by deficiency, dysfunction, or absence of…”
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The ACE gene D/I polymorphism as a modulator of severity of cystic fibrosis by Marson, Fernando A L, Bertuzzo, Carmen S, Hortencio, Taís D R, Ribeiro, José D, Bonadia, Luciana C, Ribeiro, Antônio F

“…Cystic Fibrosis (CF) is a monogenic disease with complex expression because of the action of genetic and environmental factors. We investigated whether the ACE…”
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Interaction among variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1, and SLC9A3) and CFTR mutations with clinical markers of cystic fibrosis by Pereira, Stephanie V. N., Ribeiro, Jose D., Bertuzzo, Carmen S., Marson, Fernando A. L.

“…Background Cystic fibrosis (CF) is due to dysfunction of the CFTR channel and function of this channel is, in turn, affected by modifier genes that can impact…”
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TNF-alpha polymorphisms as a potential modifier gene in the cystic fibrosis by Coutinho, Cyntia Aac, Marson, Fernando Al, Marcelino, Aline Rb, Bonadia, Luciana C, Carlin, Marcelo P, Ribeiro, Antonio F, Ribeiro, Jose D, Bertuzzo, Carmen S

“…Modifier genes, as the TNF-α gene, can modulate the cystic fibrosis (CF) severity. Thus, -238G>A and -308G>A polymorphisms of TNF-α gene were analyzed as…”
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Molecular diagnosis of Huntington disease in Brazilian patients by Lima E Silva, T C, Serra, H G, Bertuzzo, C S, Lopes-Cendes, I

“…Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive…”
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Polymorphisms in methylenetetrahydrofolate reductase gene (MTHFR) and the age of onset of sporadic colorectal adenocarcinoma by LIMA, Carmen S. P, NASCIMENTO, Helvia, BONADIA, Luciana C, TEORI, Maria T, COY, Claudio S. R, GOES, Juvenal R. N, COSTA, Fernando F, BERTUZZO, Carmen S

“…Evidence is accumulating for a role of folate in the aetiology of colorectal cancer (CRC). The methylenetetrahydrofolate reductase (MTHFR) gene, involved in…”
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Epidemiological and genetic characteristics associated with the severity of acute viral bronchiolitis by respiratory syncytial virus by Alvarez, Alfonso E., Marson, Fernando A.L., Bertuzzo, Carmen S., Arns, Clarice W., Ribeiro, José D.

“…to assess the epidemiological and genetic factors associated with severity of acute viral bronchiolitis (AVB) by respiratory syncytial virus (RSV). : the key…”
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Cystic fibrosis at a Brazilian center of excellence: clinical and laboratory characteristics of 104 patients and their association with genotype and disease severity by Alvarez, Alfonso E, Ribeiro, Antonio F, Hessel, Gabriel, Bertuzzo, Carmen S, Ribeiro, José D

“…To identify the clinical, laboratory and radiographic characteristics of the cystic fibrosis patients under care at Universidade Estadual de Campinas (UNICAMP)…”
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Características epidemiológicas e genéticas associadas à gravidade da bronquiolite viral aguda pelo vírus sincicial respiratório by Alvarez, Alfonso E., Marson, Fernando A.L., Bertuzzo, Carmen S., Arns, Clarice W., Ribeiro, José D.

“…OBJETIVO: avaliar os fatores epidemiológicos e genéticos associados à gravidade da Bronquiolite Viral Aguda (BVA) pelo Vírus Sincicial Respiratório (VSR)…”
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Association between alpha 1 antitrypsin deficiency and cystic fibrosis severity by de Faria, Elisangela Jacinto, de Faria, Isabel Cristina Jacinto, Alvarez, Alfonso E, Ribeiro, José D, Ribeiro, Antonio F, Bertuzzo, Carmen S

“…To ascertain the distribution of alpha 1 antitrypsin genotypes and correlate it with the severity of pulmonary disease in patients with cystic fibrosis. A…”
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Epidemiological and genetic characteristics associated with the severity of acute viral bronchiolitis by respiratory syncytial virus by Alvarez, Alfonso Eduardo, Marson, Fernando Augusto de Lima, Bertuzzo, Carmen Sílvia, Arns, Clarice Weis, Ribeiro, José Dirceu

“…to assess the epidemiological and genetic factors associated with severity of acute viral bronchiolitis (AVB) by respiratory syncytial virus (RSV). the key…”
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Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study by Marson, Fernando Augusto de Lima, Bertuzzo, Carmen Silvia, Ribeiro, Antonio Fernando, Ribeiro, Jose Dirceu

“…Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane…”
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Asthma: Gln27Glu and Arg16Gly polymorphisms of the beta2-adrenergic receptor gene as risk factors by de Paiva, Ana Carolina Zimiani, Marson, Fernando Augusto de Lima, Ribeiro, José Dirceu, Bertuzzo, Carmen Sílvia

“…Asthma is caused by both environmental and genetic factors. The ADRB2 gene, which encodes the beta 2-adrenergic receptor, is one of the most extensively…”
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Measurements of CFTR-Mediated Cl.sup.- Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis by Sousa, Marisa, Servidoni, Maria F, Vinagre, Adriana M, Ramalho, Anabela S, Bonadia, Luciana C, Felício, Verónica, Ribeiro, Maria A, Uliyakina, Inna, Marson, Fernando A, Kmit, Arthur, Cardoso, Silvia R, Ribeiro, José D, Bertuzzo, Carmen S, Sousa, Lisete, Kunzelmann, Karl, Ribeiro, Antônio F, Amaral, Margarida D

“…Background Cystic Fibrosis (CF) is caused by ~1,900 mutations in the CF transmembrane conductance regulator (CFTR) gene encoding for a cAMP-regulated chloride…”
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Cystic fibrosis at a Brazilian center of excellence: clinical and laboratory characteristics of 104 patients and their association with genotype and disease severity by Alvarez, Alfonso E., Ribeiro, Antonio F., Hessel, Gabriel, Bertuzzo, Carmen S., Ribeiro, José D.

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Fibrose cística em um centro de referência no Brasil: características clínicas e laboratoriais de 104 pacientes e sua associação com o genótipo e a gravidade da doença Cystic fibrosis at a Brazilian center of excellence: clinical and laboratory characteristics of 104 patients and their association with genotype and disease severity by Alfonso E. Alvarez, Antônio F. Ribeiro, Gabriel Hessel, Carmen S. Bertuzzo, José D. Ribeiro

“…OBJETIVO: Estudar as características clínicas, laboratoriais e radiográficas de pacientes fibrocísticos acompanhados na última década do século 20 na UNICAMP e…”
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Investigação de lipofuscina em miócitos cardíacos de camundongos após tratamento com oxamniquine by MELLO, M. L. S, BERTUZZO, C. S

“…A fluorescencia natural devida à presença de corpos de lipofuscina foi pesquisada em miócitos cardíacos de camundongos adultos jovens tratados com oxamniquine…”
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Fibrose cística em um centro de referência no Brasil: características clínicas e laboratoriais de 104 pacientes e sua associação com o genótipo e a gravidade da doença by Alvarez, Alfonso E., Ribeiro, Antônio F., Hessel, Gabriel, Bertuzzo, Carmen S., Ribeiro, José D.

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