Replication Timing Aberration of KIF14 and MDM4/PI3KC2β Alleles and Aneuploidy as Markers of Chromosomal Instability and Poor Treatment Response in Ewing Family Tumor Patients von Ayala, Fernanda Rocha Rojas, Martin, Jeffrey William, Bertuzzo, Carmen Silvia

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Chloride and sodium ion concentrations in saliva and sweat as a method to diagnose cystic fibrosis von Gonçalves, Aline Cristina, Marson, Fernando Augusto Lima, Mendonça, Regina Maria Holanda, Bertuzzo, Carmen Sílvia, Paschoal, Ilma Aparecida, Ribeiro, José Dirceu, Ribeiro, Antônio Fernando, Levy, Carlos Emílio

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Preimplantation genetic diagnosis for cystic fibrosis: a case report von Biazotti, Maria Cristina Santoro, Pinto Junior, Walter, Albuquerque, Maria Cecília Romano Maciel de, Fujihara, Litsuko Shimabukuro, Suganuma, Cláudia Haru, Reigota, Renata Bednar, Bertuzzo, Carmen Sílvia

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Classification of CFTR mutation classes von Marson, Fernando Augusto Lima, Bertuzzo, Carmen Sílvia, Ribeiro, José Dirceu

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Pancreatic Insufficiency in Cystic Fibrosis: Influence of Inflammatory Response Genes von Marson, Fernando Augusto Lima, Bertuzzo, Carmen Sílvia, de Araujo, Tânia Kawasaki, Hortencio, Taís Daiene Russo, Ribeiro, Antônio Fernando, Ribeiro, José Dirceu

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Asthma: Gln27Glu and Arg16Gly polymorphisms of the beta2-adrenergic receptor gene as risk factors von de Paiva, Ana Carolina Zimiani, Marson, Fernando Augusto de Lima, Ribeiro, José Dirceu, Bertuzzo, Carmen Sílvia

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Variants in the interleukin 8 gene and the response to inhaled bronchodilators in cystic fibrosis von Furlan, Larissa Lazzarini, Ribeiro, José Dirceu, Bertuzzo, Carmen Sílvia, Salomão Junior, João Batista, Souza, Dorotéia Rossi Silva, Marson, Fernando Augusto Lima

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Thymidylate synthase gene (TYMS) polymorphisms in sporadic and hereditary breast cancer von da Silva Nogueira, Jr, José, de Lima Marson, Fernando Augusto, Sílvia Bertuzzo, Carmen

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Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) re... von Santos, Luana Gavioli, Pereira, Stéphanie Villa-Nova, Kmit, Arthur Henrique Pezzo, Bonadia, Luciana Cardoso, Bertuzzo, Carmen Sílvia, Ribeiro, José Dirceu, Mazzola, Taís Nitsch, Marson, Fernando Augusto Lima

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Association of clinical severity of cystic fibrosis with variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1 and SLC9A3) von Pereira, Stéphanie Villa-Nova, Ribeiro, José Dirceu, Bertuzzo, Carmen Sílvia, Marson, Fernando Augusto Lima

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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 von Pereira, Stéphanie Villa-Nova, Ribeiro, José Dirceu, Ribeiro, Antônio Fernando, Bertuzzo, Carmen Sílvia, Marson, Fernando Augusto Lima

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Single nucleotide variants c.-13G → C (rs17429833) and c.108C → T (rs72466472) in the CLDN1 gene and increased risk for familial colorectal cancer von Battagin, André Silva, Bertuzzo, Carmen Sílvia, Carvalho, Patrícia Oliveira, Ortega, Manoela Marques, Marson, Fernando Augusto Lima

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Variants of estrogen receptor alpha and beta genes modify the severity of sporadic breast cancer von Rezende, Luciana Montes, Marson, Fernando Augusto Lima, Lima, Carmen Sílvia Passos, Bertuzzo, Carmen Sílvia

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Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center von Bieger, Andréia Marisa, Marson, Fernando Augusto de Lima, Bertuzzo, Carmen Sílvia

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

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Association between single nucleotide polymorphisms in TLR4, TLR2, TLR9, VDR, NOS2 and CCL5 genes with acute viral bronchiolitis von Alvarez, Alfonso Eduardo, Marson, Fernando Augusto Lima, Bertuzzo, Carmen Sílvia, Bastos, Juliana Cristina Santiago, Baracat, Emilio Carlos Elias, Brandão, Marcelo Barciela, Tresoldi, Antônia Teresinha, das Neves Romaneli, Mariana Tresoldi, Almeida, Celize Cruz Bresciani, de Oliveira, Therezinha, Schlodtmann, Patricia Godano, Corrêa, Ester, de Miranda, Maria Luisa Ferreira, dos Reis, Marcelo Conrado, De Pieri, José Vicente, Arns, Clarice Weis, Ribeiro, José Dirceu

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Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis von Marson, Fernando Augusto de Lima, Bertuzzo, Carmen Silvia, Ribeiro, Maria Ângela Gonçalves de Oliveira, Ribeiro, Antônio Fernando, Ribeiro, José Dirceu

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Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib von Carlin, Marcelo Paschoalete, Scherrer, Daniel Zanetti, De Tommaso, Adriana Maria Alves, Bertuzzo, Carmen Silvia, Steiner, Carlos Eduardo

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IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability von Furlan, Larissa Lazzarini, Marson, Fernando Augusto Lima, Ribeiro, José Dirceu, Bertuzzo, Carmen Sílvia, Salomão Junior, João Batista, Souza, Dorotéia Rossi Silva

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Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis von Furgeri, Daniela Tenório, Marson, Fernando Augusto Lima, Correia, Cyntia Arivabeni Araújo, Ribeiro, José Dirceu, Bertuzzo, Carmen Sílvia

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