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21 results for Bertuzzo,+Carmen+Sílvia

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Thymidylate synthase gene (TYMS) polymorphisms in sporadic and hereditary breast cancer
Author / Creator:Junior, José da Silva Nogueira ; Marson, Fernando Augusto de Lima ; Bertuzzo, Carmen Sílvia
Publisher:England: BioMed Central Ltd
Journal title:BMC research notes, 2012-12, Vol.5 (1), p.676-676, Article 676
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Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools
Author / Creator:Pereira, Stéphanie Villa-Nova ; Ribeiro, José Dirceu ; Ribeiro, Antônio Fernando ; Bertuzzo, Carmen Sílvia ; Marson, Fernando Augusto Lima
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-04, Vol.9 (1), p.6234, Article 6234
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Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil
Author / Creator:Olm, Mary Anne Kowal ; Marson, Fernando Augusto Lima ; Athanazio, Rodrigo Abensur ; Nakagawa, Naomi Kondo ; Macchione, Mariangela ; Loges, Niki Tomas ; Omran, Heymut ; Rached, Samia Zahi ; Bertuzzo, Carmen Sílvia ; Stelmach, Rafael ; Saldiva, Paulo Hilário Nascimento ; Ribeiro, José Dirceu ; Jones, Marcus Herbert ; Mauad, Thais
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-06, Vol.9 (1), p.8693-11, Article 8693
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IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability
Author / Creator:Furlan, Larissa Lazzarini ; Marson, Fernando Augusto Lima ; Ribeiro, José Dirceu ; Bertuzzo, Carmen Sílvia ; Salomão Junior, João Batista ; Souza, Dorotéia Rossi Silva
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2016-08, Vol.135 (8), p.881-894
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Burkholderia cepacia complex in cystic fibrosis in a Brazilian reference center
Author / Creator:Dentini, Priscila ; Marson, Fernando Augusto Lima ; Bonadia, Luciana Cardoso ; Bertuzzo, Carmen Sílvia ; Ribeiro, Antônio Fernando ; Levy, Carlos Emílio ; Ribeiro, José Dirceu
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Medical microbiology and immunology, 2017-12, Vol.206 (6), p.447-461
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Genetic interaction of GSH metabolic pathway genes in cystic fibrosis
Author / Creator:Marson, Fernando Augusto de Lima ; Bertuzzo, Carmen Sílvia ; Secolin, Rodrigo ; Ribeiro, Antônio Fernando ; Ribeiro, José Dirceu
Publisher:England: BioMed Central
Journal title:BMC genetics, 2013-06, Vol.14 (1), p.60-60, Article 60
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Asthma: Gln27Glu and Arg16Gly polymorphisms of the beta2-adrenergic receptor gene as risk factors
Author / Creator:de Paiva, Ana Carolina Zimiani ; Marson, Fernando Augusto de Lima ; Ribeiro, José Dirceu ; Bertuzzo, Carmen Sílvia
Publisher:England: BioMed Central Ltd
Journal title:Allergy, asthma, and clinical immunology, 2014-02, Vol.10 (1), p.8-8, Article 8
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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?
Author / Creator:Faria, Alethéa Guimarães ; Marson, Fernando Augusto Lima ; Gomez, Carla Cristina de Souza ; Ribeiro, Maria Ângela Gonçalves de Oliveira ; Morais, Lucas Brioschi ; Servidoni, Maria de Fátima ; Bertuzzo, Carmen Sílvia ; Sakano, Eulália ; Goto, Maura ; Paschoal, Ilma Aparecida ; Pereira, Mônica Corso ; Hessel, Gabriel ; Levy, Carlos Emílio ; Toro, Adyléia Aparecida Dalbo Contrera ; Peixoto, Andressa Oliveira ; Simões, Maria Cristina Ribeiro ; Lomazi, Elizete Aparecida ; Nogueira, Roberto José Negrão ; Ribeiro, Antônio Fernando ; Ribeiro, José Dirceu
Publisher:England: BioMed Central
Journal title:Diagnostic pathology, 2016-10, Vol.11 (1), p.103-103, Article 103
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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?
Author / Creator:Faria, Alethéa Guimarães ; Marson, Fernando Augusto Lima ; de Souza Gomez, Carla Cristina ; Ribeiro, Maria Ângela Gonçalves de Oliveira ; Morais, Lucas Brioschi ; de Fátima Servidoni, Maria ; Bertuzzo, Carmen Sílvia ; Sakano, Eulália ; Goto, Maura ; Paschoal, Ilma Aparecida ; Pereira, Mônica Corso ; Hessel, Gabriel ; Levy, Carlos Emílio ; Toro, Adyléia Aparecida Dalbo Contrera ; Peixoto, Andressa Oliveira ; Simões, Maria Cristina Ribeiro ; Lomazi, Elizete Aparecida ; Nogueira, Roberto José Negrão ; Ribeiro, Antônio Fernando ; Ribeiro, José Dirceu
Publisher:England: BioMed Central
Journal title:Diagnostic pathology, 2017-02, Vol.12 (1), p.22, Article 22
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Cystic Fibrosis in Adults
Author / Creator:Paschoal, Ilma Aparecida ; de Oliveira Villalba, Wander ; Bertuzzo, Carmen Sílvia ; Cerqueira, Elza Maria F. P. ; Pereira, Mônica Corso
Publisher:United States: Springer Nature B.V
Journal title:Lung, 2007-04, Vol.185 (2), p.81-87
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Erratum to: IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability
Author / Creator:Furlan, Larissa Lazzarini ; Marson, Fernando Augusto Lima ; Ribeiro, José Dirceu ; Bertuzzo, Carmen Sílvia ; Salomão Junior, João Batista ; Souza, Dorotéia Rossi Silva
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2017-03, Vol.136 (3), p.347-348
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Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital
Author / Creator:Toro, Mariana Dalbo Contrera ; Ribeiro, José Dirceu ; Marson, Fernando Augusto Lima ; Ortiz, Érica ; Toro, Adyléia Aparecida Dalbo Contrera ; Bertuzzo, Carmen Silvia ; Jones, Marcus Herbert ; Sakano, Eulália
Publisher:Basel: MDPI AG
Journal title:Genes, 2022-07, Vol.13 (7), p.1252
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Hypertonic Saline as a Useful Tool for Sputum Induction and Pathogen Detection in Cystic Fibrosis
Author / Creator:Ferreira, Adriana Carolina Marques ; Marson, Fernando Augusto Lima ; Cohen, Milena Antonelli ; Bertuzzo, Carmen Silvia ; Levy, Carlos Emilio ; Ribeiro, Antonio Fernando ; Ribeiro, Jose Dirceu
Publisher:New York: Springer US
Journal title:Lung, 2017-08, Vol.195 (4), p.431-439
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Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene
Author / Creator:Mejía Granados, Diana Marcela ; de Baptista, Marcella Bergamini ; Bonadia, Luciana Cardoso ; Bertuzzo, Carmen Silvia ; Steiner, Carlos Eduardo
Publisher:New Zealand: Dove Medical Press Limited
Journal title:Clinical, cosmetic and investigational dermatology, 2020-01, Vol.13, p.1-10
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Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study
Author / Creator:Marson, Fernando Augusto de Fernando August ; Bertuzzo, Carmen Silvia ; Ribeiro, Antonio Fernando ; Ribeiro, Jose Dirceu
Publisher:England: BioMed Central
Journal title:BMC genetics, 2014-03, Vol.15 (1), p.27-27, Article 27
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APC germline mutations in families with familial adenomatous polyposis
Author / Creator:DE QUEIROZ ROSSANESE, LILLIAN BARBOSA ; DE LIMA MARSON, FERNANDO AUGUSTO ; RIBEIRO, JOSÉ DIRCEU ; COY, CLAUDIO SADDY RODRIGUES ; BERTUZZO, CARMEN SILVIA
Publisher:Greece: D.A. Spandidos
Journal title:Oncology reports, 2013-11, Vol.30 (5), p.2081-2088
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Association between the IVS4G > T mutation in the TCF7L2 gene and susceptibility to diabetes in cystic fibrosis patients
Author / Creator:Furgeri, Daniela Tenório ; Marson, Fernando Augusto de Lima ; Ribeiro, Antonio Fernando ; Bertuzzo, Carmen Silvia
Publisher:England: BioMed Central Ltd
Journal title:BMC research notes, 2012-10, Vol.5 (1), p.561-561, Article 561
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SLC23A2-05 polymorphisms in patients with squamous cell carcinoma of the head and neck
Author / Creator:Santiago, Marilia Bueno ; Marson, Fernando Augusto De Lima ; Secolin, Rodrigo ; Ribeiro, Jose Dirceu ; Lima, Carmen Silvia Passos ; Bertuzzo, Carmen Silvia
Publisher:Spandidos Publications
Journal title:Oncology letters, 2014-06, Vol.7 (6), p.1803
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SLC23A2-05 (rs4987219) and KRAS-LCS6 (rs61764370) polymorphisms in patients with squamous cell carcinoma of the head and neck
Author / Creator:SANTIAGO, MARÍLIA BUENO ; DE LIMA MARSON, FERNANDO AUGUSTO ; SECOLIN, RODRIGO ; RIBEIRO, JOSÉ DIRCEU ; LIMA, CARMEN SÍLVIA PASSOS ; BERTUZZO, CARMEN SILVIA
Publisher:Greece: D.A. Spandidos
Journal title:Oncology letters, 2014-06, Vol.7 (6), p.1803-1811
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Quality of sweat test as diagnostic parameter of cystic fibrosis: are we on the right way?
Author / Creator:Faria, Alethna GuimarA£es ; Marson, Fernando Augusto Lima ; Gomez, Carla Cristina de Souza ; Ribeiro, Maria Angela Goncalves de Oliveira ; Morais, Lucas Brioschi ; Servidoni, Maria de Fatima ; Bertuzzo, Carmen Silvia ; Sakano, Eulalia ; Goto, Maura ; Paschoal, Ilma Aparecida ; Pereira, Monica Corso ; Hessel, Gabriel ; Levy, Carlos Emilio ; Toro, Adylnia Aparecida Dalbo Contrera ; Peixoto, Andressa Oliveira ; SimAµes, Maria Cristina Ribeiro ; Lomazi, Elizete Aparecida ; Nogueira, Roberto Josn NegrA£o ; Ribeiro, Antonio Fernando ; Ribeiro, Josn Dirceu
Publisher:BioMed Central Ltd
Journal title:Diagnostic pathology, 2016-10, Vol.11 (1)
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Showing 1 to 20 of 21 results

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

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

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

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

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Burkholderia cepacia complex in cystic fibrosis in a Brazilian reference center

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Genetic interaction of GSH metabolic pathway genes in cystic fibrosis

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

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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?

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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?

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Cystic Fibrosis in Adults

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

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Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital

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Hypertonic Saline as a Useful Tool for Sputum Induction and Pathogen Detection in Cystic Fibrosis

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

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

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APC germline mutations in families with familial adenomatous polyposis

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

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SLC23A2-05 polymorphisms in patients with squamous cell carcinoma of the head and neck

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

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Quality of sweat test as diagnostic parameter of cystic fibrosis: are we on the right way?

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