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Chromosome 17 abnormalities and mutation of the TP53 gene: correlation between cytogenetics, flow cytometry and molecular analysis in three cases of chronic myeloid leukemia Genet. Mol. Biol.
Otero,Luize; Cavalcanti Júnior,Geraldo Barroso; Klumb,Claudete Esteves; Scheiner,Marcos Antonio Mauricio; Magluta,Eliane Pereira Simões; Fernandez,Teresa de Souza; Silva,Maria Luiza Macedo; Pires,Virgínia; Andrade,Gabriela Vasconcelos; Maia,Raquel Ciuvalschi; Tabak,Daniel.
chronic myeloid leukemia (CML) have been described. This chromosomal region contains the tumor suppressor gene TP53 that may be an important factor in the evolution of this disease. In this study, we used flow cytometry and western blotting to assess p53 protein expression and single stranded conformational polymorphism to examine TP53 gene alterations in three patients with CML who showed alterations in 17p. Only the case with del(17)(p11) had p53 expression positive by flow cytometry and an abnormal migration pattern by SSCP analysis. The importance of the correlation between the results obtained with these techniques, as well as the clinical course of the patients, are discussed.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Chronic myeloid leukemia; Chromosome 17; TP53 gene; P53 protein.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000100007
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Monosomy 7 in donor cell-derived leukemia after bone marrow transplantation for severe aplastic anemia: report of a new case and review of the literature Genet. Mol. Biol.
Otero,Luize; Souza,Daiane Correa de; Tavares,Rita de Cássia; Gomes,Bernadete Evangelho; Padilha,Telma França; Bouzas,Luiz Fernando; Fernandez,Teresa de Souza; Abdelhay,Eliana.
Monosomy 7 arises as a recurrent chromosome aberration in donor cell leukemia after hematopoietic stem cell transplantation. We report a new case of donor cell leukemia with monosomy 7 following HLA-identical allogenic bone marrow transplantation for severe aplastic anemia (SAA). The male patient received a bone marrow graft from his sister, and monosomy 7 was detected only in the XX donor cells, 34 months after transplantation. The patient's bone marrow microenvironment may have played a role in the leukemic transformation of the donor hematopoietic cells.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Monosomy 7; Donor cell leukemia; Bone marrow transplantation; Severe aplastic anemia.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500004
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Myeloproliferative syndrome of monosomy 7: a brief report Genet. Mol. Biol.
Marques-Salles,Terezinha de Jesus; Soares-Ventura,Eliane Maria; Oliveira,Nathalia Lopes de; Silva,Mariluze; Assis,Reijane; Morais,Vera Lúcia Lins de; Otero,Luize; Fernandez,Teresa; Pombo-de-Oliveira,Maria do Socorro; Muniz,Maria Tereza Cartaxo; Santos,Neide.
We report the case of a five-month-old black male infant who had recurrent episodes of respiratory infections and also presented anemia and enlargements of the spleen, liver and lymphnodes. Hematological analysis revealed morphological abnormalities with megaloblastic dyserythropoiesis, while fetal hemoglobin assaying showed normal levels. Conventional and molecular cytogenetic analysis revealed monosomy of chromosome 7. Despite all therapeutic efforts during allogenic bone marrow transplantation, the child died due to generalized infection. The clinical and genetic distinctions between monosomy 7 syndrome and myelodysplastic disorders in childhood are discussed.
Tipo: Info:eu-repo/semantics/other Palavras-chave: Leukemia; Monosomy 7; Myeloproliferative syndrome.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100007
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