Browsing by Author Bertuzzo, CS

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Showing results 1 to 19 of 19
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2007Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patientsAssis, AM; Costa, FF; Arruda, VR; Annichino-Bizzacchi, JM; Bertuzzo, CS-Artigo de periódico
2013Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and IbCarlin, MP; Scherrer, DZ; de Tommaso, AMA; Bertuzzo, CS; Steiner, CE-Artigo de periódico
2013Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosisCoutinho, CADC; Marson, FAD; Ribeiro, AF; Ribeiro, JD; Bertuzzo, CS-Artigo de periódico
2001Electrophysiological evaluation in myotonic dystrophy - Correlation with CTG length expansionPfeilsticker, BHM; Bertuzzo, CS; Nucci, A-Artigo de periódico
2012The ACE gene D/I polymorphism as a modulator of severity of cystic fibrosisMarson, FAL; Bertuzzo, CS; Hortencio, TDR; Ribeiro, JD; Bonadia, LC; Ribeiro, AF-Artigo de periódico
2013Genetic interaction of GSH metabolic pathway genes in cystic fibrosisMarson, FAD; Bertuzzo, CS; Secolin, R; Ribeiro, AF; Ribeiro, JD-Artigo de periódico
1996Hb Camperdown [alpha(2)beta(2)104(G6)Arg->Ser] identified by DNA analysis in a Brazilian familyMiranda, SRP; Kimura, EM; Teixeira, RC; Bertuzzo, CS; Ramalho, AS; Saad, STO; Costa, FF-Artigo de periódico
1997Hematological phenotype and the type of beta thalassemia mutation in BrazilBertuzzo, CS; Sonati, MF; Costa, FF-Artigo de periódico
2013APC germline mutations in families with familial adenomatous polyposisRossanese, LBD; Marson, FAD; Ribeiro, JD; Coy, CSR; Bertuzzo, CS-Artigo de periódico
2012Polymorphisms in ADRB2 gene can modulate the response to bronchodilators and the severity of cystic fibrosisMarson, FAL; Bertuzzo, CS; Ribeiro, AF; Ribeiro, JD-Artigo de periódico
2007Polymorphisms in methylenetetrahydrofolate reductase gene (MTHFR) and the age of onset of sporadic colorectal adenocarcinomaLima, CSP; Nascimento, H; Bonadia, LC; Teori, MT; Coy, CSR; Goes, JRN; Costa, FF; Bertuzzo, CS-Artigo de periódico
2012Prevalence of Delta F508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral centerBieger, AM; Marson, FAD; Bertuzzo, CS-Artigo de periódico
2014SLC23A2-05 (rs4987219) and KRAS-LCS6 (rs61764370) polymorphisms in patients with squamous cell carcinoma of the head and neckSantiago, MB; Marson, FAD; Secolin, R; Ribeiro, JD; Lima, CSP; Bertuzzo, CS-Artigo de periódico
2013Screening for F508del as a first step in the molecular diagnosis of cystic fibrosisMarson, FAD; Bertuzzo, CS; Ribeiro, MAGD; Ribeiro, AF; Ribeiro, JD-Artigo de periódico
2005Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21Acacio, GL; Barini, R; Bertuzzo, CS; Couto, EC; Annichino-Bizzacchi, JM; Junior, WP-Artigo de periódico
2009Association of MBL2, TGF-beta 1 and CD14 gene polymorphisms with lung disease severity in cystic fibrosisde Faria, EJ; de Faria, ICJ; Ribeiro, JD; Ribeiro, AF; Liessel, G; Bertuzzo, CS-Artigo de periódico
2008Association of TGF-beta(1), CD14, IL-4, IL-4R and ADAM33 gene polymorphisms with asthma severity in children and adolescentsde Faria, ICJ; de Faria, EJ; Toro, AADC; Ribeiro, JD; Bertuzzo, CS-Artigo de periódico
2014Asthma: Gln27Glu and Arg16Gly polymorphisms of the beta2-adrenergic receptor gene as risk factorsde Paiva, ACZ; Marson, FAD; Ribeiro, JD; Bertuzzo, CS-Artigo de periódico
2012Measurements of CFTR-Mediated Cl- Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and PrognosisSousa, M; Servidoni, MF; Vinagre, AM; Ramalho, AS; Bonadia, LC; Felicio, V; Ribeiro, MA; Uliyakina, I; Marson, FA; Kmit, A; Cardoso, SR; Ribeiro, JD; Bertuzzo, CS; Sousa, L; Kunzelmann, K; Ribeiro, AF; Amaral, MD-Artigo de periódico