Search Results - "Walter Pinto Júnior"

Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia by 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

“…Fanconi anaemia (FA) is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions…”
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Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21 by Acácio, Gregório Lorenzo, Barini, Ricardo, Bertuzzo, Carmem Sílvia, Couto, Egle Cristina, Annichino-Bizzacchi, Joyce Maria, Júnior, Walter Pinto

“…Objectives To verify whether the frequencies of 5,10‐methylenotetrahydrofolate reductase (MTHFR) polymorphisms at positions 677 and 1298 are higher in women…”
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Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals by Santos, Kelly, Lemos-Marini, Sofia H.V., Baptista, Maria T.M., Bonadia, Luciana Cardoso, Pinto Júnior, Walter, Bertuzzo, Carmen Sílvia

“…Turner syndrome (TS) is an interesting model for investigating the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and…”
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Preimplantation genetic diagnosis for cystic fibrosis: a case report by 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

“…Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces…”
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Nuchal translucency: an ultrasound marker for fetal chromosomal abnormalities by Acácio, G L, Barini, R, Pinto Júnior, W, Ximenes, R L, Pettersen, H, Faria, M

“…The literature shows an association between several ultrasound markers and chromosome abnormality. Among these, measurement of nuchal translucency has been…”
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Determination of alpha 1-antitrypsin levels and of the presence of S and Z alleles in a population of patients with chronic respiratory symptoms by Serra, Heliane Guerra, Bertuzzo, Carmen Sílvia, Pereira, Mônica Corso, Rossi, Cláudio Lúcio, Pinto Júnior, Walter, Paschoal, Ilma Aparecida

“…To determine the levels of alpha-1 antitrypsin (AAT) and the presence of S and Z alleles in patients with chronic respiratory symptoms. Patients with chronic…”
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Avaliação da concentração de alfa 1-antitripsina e da presença dos alelos S e Z em uma população de indivíduos sintomáticos respiratórios crônicos Determination of alpha 1-antitrypsin levels and of the presence of S and Z alleles in a population of patients with chronic respiratory symptoms by Heliane Guerra Serra, Carmen Sílvia Bertuzzo, Mônica Corso Pereira, Cláudio Lúcio Rossi, Walter Pinto Júnior, Ilma Aparecida Paschoal

“…OBJETIVO: Determinar a concentração de alfa 1-antitripsina (AAT) e a prevalência dos alelos S e Z em indivíduos sintomáticos respiratórios crônicos. MÉTODOS:…”
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Avaliação da concentração de alfa 1-antitripsina e da presença dos alelos S e Z em uma população de indivíduos sintomáticos respiratórios crônicos by Serra, Heliane Guerra, Bertuzzo, Carmen Sílvia, Pereira, Mônica Corso, Rossi, Cláudio Lúcio, Pinto Júnior, Walter, Paschoal, Ilma Aparecida

“…OBJETIVO: Determinar a concentração de alfa 1-antitripsina (AAT) e a prevalência dos alelos S e Z em indivíduos sintomáticos respiratórios crônicos. MÉTODOS:…”
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Prenatal diagnosis by Walter Pinto Júnior

“…This article contains all the methods for pre-natal diagnosis of genetic and chromosomal abnormalities, as well infectious diseases in pregnancy. The author…”
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Diagnóstico pré-natal by Pinto Júnior, Walter

“…O presente artigo apresenta uma descrição de todos os métodos de diagnóstico pré-natal de anormalidades genéticas e cromossômicas, bem como dos relativos a…”
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Diagnóstico pré-natal by Walter Pinto Júnior

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Avaliação da concentração de alfa 1-antitripsina e da presença dos alelos S e Z em uma população de indivíduos sintomáticos respiratórios crônicos by Serra, Heliane Guerra, Bertuzzo, Carmen Sílvia, Pereira, Mônica Corso, Rossi, Cláudio Lúcio, Pinto Júnior, Walter, Paschoal, Ilma Aparecida

“…OBJETIVO: Determinar a concentração de alfa 1-antitripsina (AAT) e a prevalência dos alelos S e Z em indivíduos sintomáticos respiratórios crônicos. MÉTODOS:…”
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Talassemia e hanseniase by Antonio Sérgio RAMALHO, Walter PINTO JÚNIOR, Luis Alberto MAGNA, Bernardo BEIGUELMAN

“…A talassemia β foi investigada em 165 brasileiros descendentes não miscigenados de italianos, 80 dos quais eram doentes de hanseníase, da forma virchowiana, e…”
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Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients Freqüência das mutações que causam ataxia espinocerebelar (SCA1, SCA2, MJD/SCA3 e DRPLA) em um grupo numeroso de pacientes Brasileiros by Iscia Lopes-Cendesi, Hélio G.A. Teive, Maria E Calcagnotto, Jaderson C. da Costa, Francisco Cardoso, Erika Viana, Jaime A. Maciel, João Radvany, Walter O. Arruda, Paulo C. Trevisol-Bittencourt, Pedro Rosa Neto, Isabel Silveira, Carlos E. Steiner, Walter Pinto-Júnior, André S. Santos, Ylmar Correa Neto, Lineu C. Werneck, Abelardo Q.C. Araújo, Gerson Carakushansky, Luiz R. Mello, Laura B. Jardim, Guy A. Rouleau

“…Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three…”
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Inherited pericentric inversion of chromosome 16 in chronic phase of chronic myeloid leukaemia by Silva, Priscilla M.R., Lourenço, Gustavo J., Bognone, Rosemeire A.V., Delamain, Marcia T., Pinto-Junior, Walter, Lima, Carmen S.P.

“…The simultaneous occurrence of two specific acquired chromosomal abnormalities in chronic or acute leukaemias is rare. Inherited chromosomal abnormalities are…”
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Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1 Características clínicas e moleculares de uma família Brasileira com ataxia espinocerebelar tipo 1 by Iscia Lopes-Cendes, Carlos E. Steiner, Isabel Silveira, Walter Pinto-Junior, Jayme A. Maciel, Guy A. Rouleau

“…The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of late onset neurodegenerative disorders. To date, seven different…”
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Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1 by Lopes-Cendes, I, Steiner, C E, Silveira, I, Pinto Júnior, W, Maciel, J A, Rouleau, G A

“…The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of late onset neurodegenerative disorders. To date, seven different…”
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