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	Provedor de dados Genet. Mol. Biol. (3) Braz. J. Genet. (1) BJMBR (1) Autor Otto,P.A. (5) Abreu-Silva,R.S. (1) Agostini,J.M.S. (1) Braga,M.C.C. (1) Costa,Silvia S. (1) Della-Rosa,V.A. (1) Lezirovitz,K. (1) Mingroni-Netto,R.C. (1) Mingroni-Netto,Regina C. (1) Nuin,Paulo A.S. (1) Pavanello,Rita de C.M. (1) Pirana,S. (1) Spinelli,M. (1) Vianna-Morgante,Angela M. (1) Wajntal,A. (1) Mais... Palavra-chave A1555G mutation (1) At-risk groups (1) Chromosome damage (1) Cytogenetic (1) European- and African- Brazilian patients (1) Hearing impairment (1) Lymphocytes (1) Mitochondrial DNA (1) Plasma (1) TRNA Ser(UCN) mutations (1) Underground coal miners (1) Mais... Tipo do documento Info:eu-repo/semantics/article (5) Ano 2006 (1) 2000 (2) 1999 (1) 1996 (1) País Brazil (5) Idioma Inglês (5)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 5 Primeira ... 1 ... Última Premature ovarian failure (POF) in Brazilian fragile X carriers Genet. Mol. Biol. Vianna-Morgante,Angela M.; Costa,Silvia S.; Pavanello,Rita de C.M.; Otto,P.A.; Mingroni-Netto,Regina C.. The gynecological and reproductive histories of 193 women from fragile X families were surveyed. Among the 101 carriers of the premutation, 14 experienced premature menopause, contrarily to their 37 fully mutated and 55 noncarrier female relatives. Although premature menopause showed a tendency to cluster in certain fragile X families, as a group, the premutated women experienced menopause earlier than noncarriers. This suggests that premature menopause may be the extreme effect of a spectrum of ovarian anomalies associated with the fragile X premutation. Tipo: Info:eu-repo/semantics/article Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000400002 Drosophila viewer: a program on the formal genetics, anatomy and developmental biology of Drosophila melanogaster for students and specialists Genet. Mol. Biol. Otto,P.A.. Tipo: Info:eu-repo/semantics/article Ano: 2000 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000400022 A program for representing and simulating population genetic phenomena Genet. Mol. Biol. Nuin,Paulo A.S.; Otto,P.A.. The paper describes a computer program for representing and simulating population genetic phenomena, such as the distribution of gene and genotype frequencies under different mating systems (panmixia, inbreeding and assortative mating systems) and under influence of evolution factors (mutation, selection, gene flow and genetic drift). The program was written in Visual Basic (Microsoft, Inc.) and is able to run in any IBM-PC compatible computer running Windows 3.1 or later versions. Tipo: Info:eu-repo/semantics/article Ano: 2000 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000100009 Chromosome damage in underground coal miners: detection by conventional cytogenetic techniques and by submitting lymphocytes of unexposed individuals to plasma from at-risk groups Braz. J. Genet. Agostini,J.M.S.; Otto,P.A.; Wajntal,A.. Chromosome abnormalities and the mitotic index in lymphocyte cultures and micronuclei in buccal mucosa cells were investigated in a sample of underground mineral coal miners from Southern Brazil. A decreased mitotic index, an excess of micronuclei and a higher frequency of chromosome abnormalities (fragments, polyploidy and overall chromosome alterations) were observed in the miners when compared to age-paired normal controls from the same area. An alternative assay for clastogenesis in occupational exposition was tested by submitting lymphocytes from non-exposed individuals to a pool of plasmas from the exposed population. This assay proved to be very convenient, as the lymphocytes obtained from the same individuals can be used as target as well as... Tipo: Info:eu-repo/semantics/article Palavras-chave: Chromosome damage; Underground coal miners; Cytogenetic; Lymphocytes; Plasma; At-risk groups. Ano: 1996 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400021 Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients BJMBR Abreu-Silva,R.S.; Lezirovitz,K.; Braga,M.C.C.; Spinelli,M.; Pirana,S.; Della-Rosa,V.A.; Otto,P.A.; Mingroni-Netto,R.C.. Mitochondrial mutations are responsible for at least 1% of the cases of hereditary deafness, but the contribution of each mutation has not yet been defined in African-derived or native American genetic backgrounds. A total of 203 unselected hearing-impaired patients were screened for the presence of the mitochondrial mutation A1555G in the 12S rRNA gene and mutations in the tRNA Ser(UCN) gene in order to assess their frequency in the ethnically admixed Brazilian population. We found four individuals with A1555G mutation (2%), which is a frequency similar to those reported for European-derived populations in unselected samples. On the other hand, complete sequencing of the tRNA Ser(UCN) did not reveal reported pathogenic substitutions, namely A7445G,... Tipo: Info:eu-repo/semantics/article Palavras-chave: Mitochondrial DNA; Hearing impairment; A1555G mutation; TRNA Ser(UCN) mutations; European- and African- Brazilian patients. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000200008 Registros recuperados: 5 Primeira ... 1 ... Última

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