Výsledky vyhledávání - "Carmen S Bertuzzo"

Akademický článek

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

Autor: Marisa Sousa, Maria F Servidoni, Adriana M Vinagre, Anabela S Ramalho, Luciana C Bonadia, Verónica Felício, Maria A Ribeiro, Inna Uliyakina, Fernando A Marson, Arthur Kmit, Silvia R Cardoso, José D Ribeiro, Carmen S Bertuzzo, Lisete Sousa, Karl Kunzelmann, Antônio F Ribeiro, Margarida D Amaral

Publikováno v: PLoS ONE, Vol 7, Iss 10, p e47708 (2012)

BackgroundCystic Fibrosis (CF) is caused by ∼1,900 mutations in the CF transmembrane conductance regulator (CFTR) gene encoding for a cAMP-regulated chloride (Cl(-)) channel expressed in several epithelia. Clinical features are dominated by respira

Externí odkaz: https://doaj.org/article/2860c930e59242669d87fa4093d5ef95

Zobrazit plný text záznamu

Akademický článek

Características epidemiológicas e genéticas associadas à gravidade da bronquiolite viral aguda pelo vírus sincicial respiratório

Autor: Alfonso E. Alvarez, Fernando A.L. Marson, Carmen S. Bertuzzo, Clarice W. Arns, José D. Ribeiro

Publikováno v: Jornal de Pediatria, Vol 89, Iss 6, Pp 531-543 (2013)

OBJETIVO: avaliar os fatores epidemiológicos e genéticos associados à gravidade da Bronquiolite Viral Aguda (BVA) pelo Vírus Sincicial Respiratório (VSR). FONTE DOS DADOS: foram utilizados descritores "bronchiolitis", "risk factor", "genetics" e

Externí odkaz: https://doaj.org/article/8bc4b501a6d34f1fa2f1d47e7277b703

Zobrazit plný text záznamu

Akademický článek

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

Autor: Alfonso E. Alvarez, Fernando A.L. Marson, Carmen S. Bertuzzo, Clarice W. Arns, José D. Ribeiro

Publikováno v: Jornal de Pediatria (Versão em Português), Vol 89, Iss 6, Pp 531-543 (2013)

Objective: to assess the epidemiological and genetic factors associated with severity of acute viral bronchiolitis (AVB) by respiratory syncytial virus (RSV). Data source: : the key words “bronchiolitis”, “risk factor”, “genetics” and “

Externí odkaz: https://doaj.org/article/4640029b638f410090746fdcefff5909

Zobrazit plný text záznamu

Akademický článek

A case of possible genetic predisposition to myelodysplastic syndrome Um caso de possível predisposição genética à síndrome mielodisplástica

Autor: Manoela M. Ortega, Carmen S. Bertuzzo, Luiz P. Beltrame, Walter Pinto Jr., Christine Hackel, Carmen S. P. Lima

Publikováno v: Revista Brasileira de Hematologia e Hemoterapia, Vol 26, Iss 4, Pp 296-297 (2004)

Externí odkaz: https://doaj.org/article/63f94cc545434664bb199eb40eba2aca

Zobrazit plný text záznamu

Akademický článek

Cytogenetic and molecular miagnosis of Fanconi anemia Diagnóstico citogenético e molecular da anemia de Fanconi

Autor: Carmen S. P. Lima, Gustavo J. Lourenço, Davi E. A. Rodriguez, Maristela Zocca, Carmen S. Bertuzzo

Publikováno v: Revista Brasileira de Hematologia e Hemoterapia, Vol 25, Iss 3, Pp 191-192 (2003)

Externí odkaz: https://doaj.org/article/2aa9c1c6e96146b38180706ebc8b68ed

Zobrazit plný text záznamu

Personalized or Precision Medicine? The Example of Cystic Fibrosis

Autor: Fernando A. L. Marson, Carmen S. Bertuzzo, José D. Ribeiro

Publikováno v: Frontiers in Pharmacology
Frontiers in Pharmacology, Vol 8 (2017)

The advent of the knowledge on human genetics, by the identification of disease-associated variants, culminated in the understanding of human variability. With the genetic knowledge, the specificity of the clinical phenotype and the drug response of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::829a9464ff5e8c456254420687e34450

Zobrazit plný text záznamu

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

Autor: Alfonso E. Alvarez, Antônio F. Ribeiro, Gabriel Hessel, Carmen S. Bertuzzo, José D. Ribeiro

Publikováno v: Jornal de Pediatria, Vol 80, Iss 5, Pp 371-379 (2004)

OBJETIVO: Estudar as características clínicas, laboratoriais e radiográficas de pacientes fibrocísticos acompanhados na última década do século 20 na UNICAMP e verificar se existe associação com o genótipo e a gravidade da doença medida pe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::5905f15306493d15de4fdbab5fb95317
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572004000600007

Zobrazit plný text záznamu

Molecular diagnosis of Huntington disease in Brazilian patients Diagnóstico molecular da doença de Huntington em pacientes brasileiros

Autor: TEREZA C. LIMA E SILVA, HELIANE GUERRA SERRA, CARMEN S. BERTUZZO, ISCIA LOPES-CENDES

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 58, Iss 1, Pp 11-17 (2000)

Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in ap

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::91c2b124bdcff709c92c499bc2702b5f
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2000000100002

Zobrazit plný text záznamu

Akademický článek

Investigação de lipofuscina em miócitos cardíacos de camundongos após tratamento com oxamniquine Investigation of lipofuscin in cardiac miocytes of mice treated with oxamniquine

Autor: Maria Luiza Silveira Mello, Carmen S. Bertuzzo

Publikováno v: Revista do Instituto de Medicina Tropical de São Paulo, Vol 26, Iss 5, Pp 241-242 (1984)

A fluorescencia natural devida à presença de corpos de lipofuscina foi pesquisada em miócitos cardíacos de camundongos adultos jovens tratados com oxamniquine. O objetivo foi buscar uma evidência de indução de envelhecimento celular precoce, c

Externí odkaz: https://doaj.org/article/9144c1ec20414583a784988f29bd4ae1

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání