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| Araújo,A.; Ramos,E.S.. |
| The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, conventional cytogenetic techniques can be ineffective and molecular investigation is indicated. Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Turner syndrome; X-inactivation; HUMARA assay; DNA methylation; Criptic mosaicism. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000500004 |
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| Rios,Álvaro F.L.; Lemos,Daniela C.; Fernandes,Maurício B.; Andrea,Maria V.; Gomes,Marcus V.M.; Lôbo,Raysildo B.; Mazucato,Mendelson; Ramos,Ester S.. |
| The CCCTC - binding factor (CTCF) is a protein involved in repression, activation, hormone-inducible gene silencing, functional reading of imprinted genes and X-chromosome inactivation. We analyzed CTCF gene expression in bovine peripheral blood, oocytes and in different cellular stages (2-4 cells, 8-16 cells, 16-32 cells, morulae, and blastocysts) of in vitro fertilized embryos. This is the first report of CTCF expression in oocytes and preimplantation bovine embryos and has implications for the production of embryonic stem cells and the development of novel medical technologies for humans. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CTCF; Genomic imprinting; Preimplantation embryos; X-inactivation. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600029 |
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