Impact of CFTR large deletions and insertions on the clinical and laboratory severity of cystic fibrosis: a serial case report von Pereira, L.R., Lima, T.M., Melani, V.F., Mendes, M.F., Pereira, S.V., Bertuzzo, C.S., Marson, F.A.L.

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A negative screening of rare genetic variants in the ADIPOQ and STATH genes in cystic fibrosis von Coutinho, C.A.A.C., Marson, F.A.L., Ribeiro, J.D., Bertuzzo, C.S.

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COX-2 GENE POLYMORPHISMS: GENETIC DETERMINANTS OF CYSTIC FIBROSIS COMORBIDITIES von AL, MARSON F, RB, MARCELINO A, JD, RIBEIRO, AF, RIBEIRO, CS, BERTUZZO

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Molecular characterisation of cystic fibrosis patients in the state of São Paulo (Brazil) von Parizotto, E A, Bertuzzo, C S

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ADRA2A IS A CYSTIC FIBROSIS MODIFIER GENE von AL, MARSON F, LM, REZENDE, DT, FURGERI, AF, RIBEIRO, JD, RIBEIRO, CS, BERTUZZO

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Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients von Assis, A. M., Costa, F. F., Arruda, V. R., Annichino-Bizzacchi, J. M., Bertuzzo, C. S.

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Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion von Pfeilsticker, B H, Bertuzzo, C S, Nucci, A

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Molecular diagnosis of Huntington disease in Brazilian patients von Lima E Silva, T C, Serra, H G, Bertuzzo, C S, Lopes-Cendes, I

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Hb Camperdown [α2β2104(G6)ARG → SER] Identified by DNA Analysis in a Brazilian Family von Miranda, S. R. P., Kimura, E. M., Teixeira, R. C., Bertuzzo, C. S., Ramalho, A. S., Saad, S. T. O., Costa, F. F.

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Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene von Mejía Granados, Diana Marcela, de Baptista, Marcella Bergamini, Bonadia, Luciana Cardoso, Bertuzzo, Carmen Silvia, Steiner, Carlos Eduardo

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Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21 von Acácio, Gregório Lorenzo, Barini, Ricardo, Bertuzzo, Carmem Sílvia, Couto, Egle Cristina, Annichino-Bizzacchi, Joyce Maria, Júnior, Walter Pinto

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Impact of CFTR large deletions and insertions on the clinical and laboratory severity of cystic fibrosis: a serial case report von Pereira, L R, Lima, T M, Melani, V F, Mendes, M F, Pereira, S V, Bertuzzo, C S, Marson, F A L

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Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals von Santos, Kelly, Lemos-Marini, Sofia H.V., Baptista, Maria T.M., Bonadia, Luciana Cardoso, Pinto Júnior, Walter, Bertuzzo, Carmen Sílvia

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Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease von De Tommaso, A M, Rossi, C L, Escanhoela, C A, Serra, H G, Bertuzzo, C S, Hessel, G

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Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia von Rodriguez, David Enrique Aguilar, Lima, Carmen Silvia Passos, Lourenço, Gustavo Jacob, Figueiredo, Maria Estela, Carneiro, Jorge David Aivazoglu, Tone, Luiz Gonzaga, Llerena Jr, Juan Clinton, Toscano, Raquel Alves, Brandalise, Silvia, Pinto Júnior, Walter, Costa, Fernando Ferreira, Bertuzzo, Carmen Sílvia

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Investigação de lipofuscina em miócitos cardíacos de camundongos após tratamento com oxamniquine von MELLO, M. L. S, BERTUZZO, C. S

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Lipofuscin in cardiac myocytes of mice treated with oxamniquine von Mello, M L, Bertuzzo, C S

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Illuminating the dark: mono-γ signals at NA62 von Barducci, D., Bertuzzo, E., Taoso, M., Ternes, C. A., Toni, C.

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Glycolysis Is Required for LPS-Induced Activation and Adhesion of Human CD14 + CD16 - Monocytes von Lee, Man K S, Al-Sharea, Annas, Shihata, Waled A, Bertuzzo Veiga, Camilla, Cooney, Olivia D, Fleetwood, Andrew J, Flynn, Michelle C, Claeson, Ellen, Palmer, Clovis S, Lancaster, Graeme I, Henstridge, Darren C, Hamilton, John A, Murphy, Andrew J

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

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