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Registros recuperados: 3
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Genomic alterations detected by comparative genomic hybridization in ovarian endometriomas BJMBR
Veiga-Castelli,L.C.; Rosa e Silva,J.C.; Meola,J.; Ferriani,R.A.; Yoshimoto,M.; Santos,S.A.; Squire,J.A.; Martelli,L..
Endometriosis is a complex and multifactorial disease. Chromosomal imbalance screening in endometriotic tissue can be used to detect hot-spot regions in the search for a possible genetic marker for endometriosis. The objective of the present study was to detect chromosomal imbalances by comparative genomic hybridization (CGH) in ectopic tissue samples from ovarian endometriomas and eutopic tissue from the same patients. We evaluated 10 ovarian endometriotic tissues and 10 eutopic endometrial tissues by metaphase CGH. CGH was prepared with normal and test DNA enzymatically digested, ligated to adaptors and amplified by PCR. A second PCR was performed for DNA labeling. Equal amounts of both normal and test-labeled DNA were hybridized in human normal...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Endometrioma; Endometriosis; Comparative genomic hybridization; Chromosomal imbalances.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000800014
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No evidence of association of MUC-1 genetic polymorphism with embryo implantation failure BJMBR
Dentillo,D.B.; Souza,F.R.P.; Meola,J.; Vieira,G.S.; Yazlle,M.E.H.D.; Goulart,L.R.; Martelli,L..
Pregnancy loss can be caused by several factors involved in human reproduction. Although up to 50% of cases remain unexplained, it has been postulated that the major cause of failed pregnancy is an error of embryo implantation. Transmembrane mucin-1 (MUC-1) is a glycoprotein expressed on the endometrial cell surface which acts as a barrier to implantation. The gene that codes for this molecule is composed of a polymorphic tandem repeat of 60 nucleotides. Our objective was to determine if MUC-1 genetic polymorphism is associated with implantation failure in patients with a history of recurrent abortion. The study was conducted on 10 women aged 25 to 35 years with no history of successful pregnancy and with a diagnosis of infertility. The control group...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Mucin-1; Female infertility; Implantation failure; Variable number of tandem repeats; Genetic polymorphism.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000600007
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Lack of evidence for mutations or deletions in the CDKN2A/p16 and CDKN2B/p15 genes of Brazilian neuroblastoma patients BJMBR
Bassi,C.L.; Martelli,L.; Cipolotti,R.; Scrideli,C.A.; Defávery,R.; Tone,L.G..
Neuroblastoma, the most common extracranial tumor in childhood, has a wide spectrum of clinical and biological features. The loss of heterozygosity within the 9p21 region has been reported as a prognostic factor. Two tumor suppressor genes located in this region, the CDKN2B/p15 and CDKN2A/p16 (cyclin-dependent kinase inhibitors 2B and 2A, respectively) genes, play a critical role in cell cycle progression and are considered to be targets for tumor inactivation. We analyzed CDKN2B/p15 and CDKN2A/p16 gene alterations in 11 patients, who ranged in age from 4 months to 13 years (male/female ratio was 1.2:1). The most frequent stage of the tumor was stage IV (50%), followed by stages II and III (20%) and stage I (10%). The samples were submitted to the...
Tipo: Info:eu-repo/semantics/other Palavras-chave: P15 gene; P16 gene; Deletion; Mutation; Neuroblastoma.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004001100014
Registros recuperados: 3
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