Výsledky vyhledávání

Identification of three novel RB1 mutations in Brazilian patients with retinoblastoma by 'exon by exon' PCR mediated SSCP analysis

Autor: Héctor N. Seuánez, A L A Eisenberg, Esteban Braggio, F R Vargas, S E Ferman, Cibele R. Bonvicino

Publikováno v: Journal of Clinical Pathology. 57:585-590

Aims: To carry out a retrospective study, screening for mutations of the entire coding region of RB1 and adjacent intronic regions in patients with retinoblastoma. Methods: Mutation screening in DNA extracts of formalin fixed, paraffin wax embedded t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e96e601f9a65845ae8738d80e8c356e
https://doi.org/10.1136/jcp.2003.014423

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Huntington disease and Huntington disease-like in a case series from Brazil

Publikováno v: Clinical genetics. 86(4)

The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::98dfb317b50f7639a197db4c44f21da0
https://pubmed.ncbi.nlm.nih.gov/24102565

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Association of TP53 polymorphisms on the risk of Wilms tumor

Autor: R C, Andrade, L C A, Cardoso, S E, Ferman, P S, Faria, H N, Seuánez, M I, Achatz, F R, Vargas

Publikováno v: Pediatric bloodcancer. 61(3)

Molecular factors influencing Wilms tumor (WT) development remain largely unknown. TP53 mutations seem to be restricted to the anaplastic WT subtype. However, TP53 polymorphisms do not have a defined role in the disease.To assess the impact of TP53 m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ba62e6289c2e3c7a21b88cc9c56fe55f
https://pubmed.ncbi.nlm.nih.gov/24038938

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Rapadilino syndrome

Autor: F R, Vargas, J C, de Almeida, J C, Llerena Júnior, D F, Reis

Publikováno v: American Journal of Medical Genetics. 44:716-719

We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of the RAPADILINO syndrome.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c48f2b2a5e7076690a10721dea2b2b37
https://doi.org/10.1002/ajmg.1320440604

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DNA extraction from fixed cytogenetic cell suspensions

Autor: M R, Amorim, F R, Vargas, J C, Llerena, M S, Pombo-de-Oliveira

Publikováno v: Genetics and molecular research : GMR. 6(3)

We developed a procedure for DNA extraction from small volumes of fixed cell suspensions previously prepared for conventional cytogenetic analysis. Good quality DNA was isolated with a fast and simple protocol using DNAzol reagent. This provided suit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7b1726778c3faa2f832d633f235fa511
https://pubmed.ncbi.nlm.nih.gov/17985302

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Prenatal exposure to misoprostol and vascular disruption defects: a case-control study

Autor: F R, Vargas, L, Schuler-Faccini, D, Brunoni, C, Kim, V F, Meloni, S M, Sugayama, L, Albano, J C, Llerena, J C, Almeida, A, Duarte, D P, Cavalcanti, E, Goloni-Bertollo, A, Conte, G, Koren, A, Addis

Publikováno v: American journal of medical genetics. 95(4)

Prenatal exposure to misoprostol has been associated with Moebius and limb defects. Vascular disruption has been proposed as the mechanism for these teratogenic effects. The present study is a multicenter, case-control study that was designed to comp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c5fd0f4882dbcd5cdca6dced4c93a690
https://pubmed.ncbi.nlm.nih.gov/11186881

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