Výsledky vyhledávání - "Walter PINTO JÚNIOR"

Akademický článek

Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals

Autor: Kelly Santos, Sofia H.V. Lemos-Marini, Maria T.M. Baptista, Luciana Cardoso Bonadia, Walter Pinto Júnior, Carmen Sílvia Bertuzzo

Publikováno v: Genetics and Molecular Biology, Vol 29, Iss 1, Pp 41-44 (2006)

Turner syndrome (TS) is an interesting model for investigating the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and non-disjunction because of the high frequency of chromosomal mosaicism among patients with this

Externí odkaz: https://doaj.org/article/ae247afd9e92467e9b7143a735f66ed5

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Akademický článek

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

Autor: David Enrique Aguilar Rodriguez, Carmen Silvia Passos Lima, Gustavo Jacob Lourenço, Maria Estela Figueiredo, Jorge David Aivazoglu Carneiro, Luiz Gonzaga Tone, Juan Clinton Llerena Jr., Raquel Alves Toscano, Silvia Brandalise, Walter Pinto Júnior, Fernando Ferreira Costa, Carmen Sílvia Bertuzzo

Publikováno v: Genetics and Molecular Biology, Vol 28, Iss 2, Pp 205-209 (2005)

Fanconi anaemia (FA) is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular ch

Externí odkaz: https://doaj.org/article/0382fe48f2db4ba8964845241ca988ae

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Akademický článek

Nuchal translucency: an ultrasound marker for fetal chromosomal abnormalities

Autor: Gregório Lorenzo Acácio, Ricardo Barini, Walter Pinto Júnior, Renato Luís Silveira Ximenes, Heverton Pettersen, Marcos Faria

Publikováno v: São Paulo Medical Journal, Vol 119, Iss 1, Pp 19-23 (2001)

CONTEXT: The literature shows an association between several ultrasound markers and chromosome abnormality. Among these, measurement of nuchal translucency has been indicated as a screening method for aneuploidy. The trisomy of chromosome 21 has been

Externí odkaz: https://doaj.org/article/33b671a1f95343e782e68b339c516269

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Akademický článek

Talassemia e hanseniase

Autor: Antonio Sérgio RAMALHO, Walter PINTO JÚNIOR, Luis Alberto MAGNA, Bernardo BEIGUELMAN

Publikováno v: Hansenologia Internationalis, Vol 8, Iss 1 (1983)

A talassemia β foi investigada em 165 brasileiros descendentes não miscigenados de italianos, 80 dos quais eram doentes de hanseníase, da forma virchowiana, e 85 estudantes universitários (grupo controle). A freqüência da talassemia foi de 6,25

Externí odkaz: https://doaj.org/article/a3210343dcda446cbbe20c291638e482

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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

Autor: Walter Pinto Júnior, Carmen Silvia Bertuzzo, Mônica Corso Pereira, Cláudio Lúcio Rossi, Ilma Aparecida Paschoal, Heliane Guerra Serra

Publikováno v: Jornal Brasileiro de Pneumologia v.34 n.12 2008
Jornal Brasileiro de Pneumologia
Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)
instacron:SBPT

OBJETIVO: Determinar a concentração de alfa 1-antitripsina (AAT) e a prevalência dos alelos S e Z em indivíduos sintomáticos respiratórios crônicos. MÉTODOS: Pacientes com tosse crônica e dispnéia foram submetidos à avaliação clínica, e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65bd151acf0bd4cd009b0383c0b48507
https://doi.org/10.1590/s1806-37132008001200006

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Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals

Autor: Sofia Helena Valente de Lemos-Marini, Luciana Cardoso Bonadia, Kelly Santos, Walter Pinto Júnior, Carmen Silvia Bertuzzo, Maria Tereza Matias Baptista

Publikováno v: Genetics and Molecular Biology, Vol 29, Iss 1, Pp 41-44 (2006)
Genetics and Molecular Biology, Volume: 29, Issue: 1, Pages: 41-44, Published: 2006
Genetics and Molecular Biology v.29 n.1 2006
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e57eb5d7bc33d0ef7f68af01460fc33
https://doi.org/10.1590/s1415-47572006000100008

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Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21

Autor: Walter Pinto Júnior, Ricardo Barini, Carmem Silvia Bertuzzo, Joyce M. Annichino-Bizzacchi, Egle Couto, Gregório Lorenzo Acácio

Publikováno v: Web of Science
Repositório Institucional da UNITAU
Universidade de Taubaté (UNITAU)
instacron:UNITAU

Made available in DSpace on 2019-09-12T16:53:24Z (GMT). No. of bitstreams: 0 Previous issue date: 2005 Objectives To verify whether the frequencies of 5,10-methylenotetrahydrofolate reductase (MTHFR) polymorphisms at positions 677 and 1298 are higher

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32711f5389d9839cea800cf86d4e7aea
https://doi.org/10.1002/pd.1296

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Diagnóstico pré-natal Prenatal diagnosis

Autor: Walter Pinto Júnior

Publikováno v: Ciência & Saúde Coletiva, Vol 7, Iss 1, Pp 139-157 (2002)

O presente artigo apresenta uma descrição de todos os métodos de diagnóstico pré-natal de anormalidades genéticas e cromossômicas, bem como dos relativos a doenças infecciosas na gravidez. O autor discute as diferenças entre eles, e as novas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::f0163ff175b54aa4aaa5c5d0e791342a
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-81232002000100013

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Prenatal diagnosis

Autor: Walter Pinto Júnior

Publikováno v: Ciência & Saúde Coletiva, Vol 7, Iss 1, Pp 139-157
Ciência & Saúde Coletiva, Volume: 7, Issue: 1, Pages: 139-157, Published: 2002
Ciência & Saúde Coletiva, Vol 7, Iss 1, Pp 139-157 (2002)
Ciência & Saúde Coletiva v.7 n.1 2002
Ciência & Saúde Coletiva
Associação Brasileira de Saúde Coletiva (ABRASCO)
instacron:ABRASCO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::627a12b4f224ec25a328afc1f66d29d0
https://doi.org/10.1590/s1413-81232002000100013

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