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FOXP in Tetrapoda: Intrinsically Disordered Regions, Short Linear Motifs and their evolutionary significance Genet. Mol. Biol.
Viscardi,Lucas Henriques; Tovo-Rodrigues,Luciana; Paré,Pamela; Fagundes,Nelson Jurandi Rosa; Salzano,Francisco Mauro; Paixão-Côrtes,Vanessa Rodrigues; Bau,Claiton Henrique Dotto; Bortolini,Maria Cátira.
Abstract The FOXP subfamily is probably the most extensively characterized subfamily of the forkhead superfamily, playing important roles in development and homeostasis in vertebrates. Intrinsically disorder protein regions (IDRs) are protein segments that exhibit multiple physical interactions and play critical roles in various biological processes, including regulation and signaling. IDRs in proteins may play an important role in the evolvability of genetic systems. In this study, we analyzed 77 orthologous FOXP genes/proteins from Tetrapoda, regarding protein disorder content and evolutionary rate. We also predicted the number and type of short linear motifs (SLIMs) in the IDRs. Similar levels of protein disorder (approximately 70%) were found for...
Tipo: Info:eu-repo/semantics/article Palavras-chave: FOXP2; Intrinsically disordered protein regions; Forkhead superfamily; Short linear motif; Molecular evolution.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000100181
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The effect of magnesium on mitotic spindle formation in Schizosaccharomyces pombe Genet. Mol. Biol.
Uz,Gulsen; Sarikaya,Aysegul Topal.
Abstract Magnesium (Mg2+), an essential ion for cells and biological systems, is involved in a variety of cellular processes, including the formation and breakdown of microtubules. The results of a previous investigation suggested that as cells grow the intracellular Mg2+ concentration falls, thereby stimulating formation of the mitotic spindle. In the present work, we used a Mg2+-deficient Schizosaccharomyces pombe strain GA2, in which two essential membrane Mg2+ transporter genes (homologs of ALR1 and ALR2 in Saccharomyces cerevisae) were deleted, and its parental strain Sp292, to examine the extent to which low Mg2+ concentrations can affect mitotic spindle formation. The two S. pombe strains were transformed with a plasmid carrying a GFP-α2-tubulin...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Magnesium; Microtubule; Mitosis; Mitotic spindle; Schizosaccharomyces pombe.
Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300459
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Association of killer cell immunoglobulin-like receptor polymorphisms with chronic hepatitis C and responses to therapy in Brazil Genet. Mol. Biol.
Vasconcelos,Janaina Mota de; Móia,Lizomar de Jesus Maués Pereira; Amaral,Ivanete do Socorro Abraçado; Miranda,Esther Castello Branco Mello; CicaliseTakeshita,Louise Yukari; Oliveira,Layanna Freitas de; Mendes,Lilian de Araújo Melo; Sastre,Danuta; Tamegão-Lopes,Bruna Pedroso; Pedroza,Larysse Santa Rosa de Aquino; Santos,Sidney Emanuel Batista dos; Soares,Manoel do Carmo Pereira; Araújo,Marialva Tereza Ferreira de; Bandeira,Camila Lucas; Silva,Adriana Maria Paixão de Sousa da; Medeiros,Zilene Lameira de; Sena,Leonardo; Demachki,Samia; Santos,Eduardo José Melo dos.
Soroprevalence for Hepatitis C virus is reported as 2.12% in Northern Brazil, with about 50% of the patients exhibiting a sustained virological response (SVR). Aiming to associate polymorphisms in Killer Cell Immunoglobulin-like Receptors (KIR) with chronic hepatitis C and therapy responses we investigated 125 chronic patients and 345 controls. Additionally, 48 ancestry markers were genotyped to control for population stratification. The frequency of the KIR2DL2 and KIR2DL2+HLA-C Asp80 gene and ligand was higher in chronic infected patients than in controls (p < 0.0009, OR = 3.4; p = 0.001, OR = 3.45). In fact, KIR2DL3 is a weaker inhibitor of NK activity than KIR2DL2, which could explain the association of KIR2DL2 with chronic infection. Moreover,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: HCV; KIR; HLA-C; Hepatitis C; KIR2DL2.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000100004
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Interethnic admixture and the evolution of Latin American populations Genet. Mol. Biol.
Salzano,Francisco Mauro; Sans,Mónica.
A general introduction to the origins and history of Latin American populations is followed by a systematic review of the data from molecular autosomal assessments of the ethnic/continental (European, African, Amerindian) ancestries for 24 Latin American countries or territories. The data surveyed are of varying quality but provide a general picture of the present constitution of these populations. A brief discussion about the applications of these results (admixture mapping) is also provided. Latin American populations can be viewed as natural experiments for the investigation of unique anthropological and epidemiological issues.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Interethnic admixture; Latin America; Population structure.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200003
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The SCA1 (Spinocerebellar ataxia type 1) and MJD (Machado-Joseph disease) CAG repeats in normal individuals: segregation analysis and allele frequencies Genet. Mol. Biol.
Wiezel,Cláudia Emília Vieira; Canas,Maria do Carmo Tomitão; Simões,Aguinaldo Luiz.
Spinocerebellar ataxia type 1 (SCA1) and Machado-Joseph disease (MJD/SCA3) are autosomal dominant neurodegenerative diseases caused by expansions of a CAG trinucleotide repeat in the SCA1 and MJD genes. These expanded sequences are unstable upon transmission, leading to an intergeneration increase in the number of repeats (dynamic mutation). The transmission of the CAG repeat was studied in normal mother-father-child trios, referred for paternity testing (SCA1, n = 367; MJD, n = 879). No segregation distortion was detected. The CAG allele frequencies were determined in 330 unrelated individuals (fathers from couples tested for paternity). The allele frequency distributions did not differ from those previously reported for European populations. The...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Segregation distortion; Spinocerebellar ataxia type 1; Machado-Joseph disease.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000200002
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Expression analysis on 14-3-3 proteins in regenerative liver following partial hepatectomy Genet. Mol. Biol.
Xue,Deming; Xue,Yang; Niu,Zhipeng; Guo,Xueqiang; Xu,Cunshuan.
Abstract 14-3-3 proteins play a vital part in the regulation of cell cycle and apoptosis as signaling integration points. During liver regeneration, the quiescent hepatocytes go through hypertrophy and proliferation to restore liver weight. Therefore, we speculated that 14-3-3 proteins regulate the progression of liver regeneration. In this study, we analyzed the expression patterns of 14-3-3 proteins during liver regeneration of rat to provide an insight into the regenerative mechanism using western blotting. Only four isoforms (γ, ε, σ and τ/θ) of the 14-3-3 proteins were expressed in regenerative liver after partial hepatectomy (PH). The dual effects, the significant down-regulation of 14-3-3ε and the significant up-regulation of 14-3-3τ/θ at 2 h after...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Liver regeneration; 14-3-3 proteins; Western blotting.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500855
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Polymorphisms in promoter sequences of MDM2, p53, and p16INK4a genes in normal Japanese individuals Genet. Mol. Biol.
Ohsaka,Yasuhito; Nishino,Hoyoku.
Research has been conducted to identify sequence polymorphisms of gene promoter regions in patients and control subjects, including normal individuals, and to determine the influence of these polymorphisms on transcriptional regulation in cells that express wild-type or mutant p53. In this study we isolated genomic DNA from whole blood of healthy Japanese individuals and sequenced the promoter regions of the MDM2, p53, and p16INK4a genes. We identified polymorphisms comprising 3 nucleotide substitutions at exon 1 and intron 1 regions of the MDM2 gene and 1 nucleotide insertion at a poly(C) nucleotide position in the p53 gene. The Japanese individuals also exhibited p16INK4a polymorphisms at several positions, including position -191. Reporter gene analysis...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Murine double minute 2; Polymorphism; P16INK4a; P53; Transcription.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400004
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Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura Genet. Mol. Biol.
Cardoso,Greice Lemos; Takanashi,Silvania Yukiko Lins; Guerreiro,João Farias.
The most common hemoglobinopathies, viz, hemoglobins S and C, and α-and β-thalassemias, were investigated through the molecular screening of 116 subjects from the community of Saracura, comprising fugitive African slaves from farms of the municipality of Santarém, in the west of Pará State, Brazilian Amazon. The observed frequency of the HBB*S gene (0.9%) was significantly lower than that encountered in other Afro-derived communities in the region. Concomitantly, the absence of the HBB*C allele has been reported for most of the Afro-Amazonian communities thus far studied. As remnant populations of quilombos are generally small, the heterogeneous distribution of HBB*S and HBB*C alleles among them is probably due to genetic drift and/or founder effect. The...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Sickle cell disease; Thalassemias; Afro-Amazonian.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400002
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Agmatoploidy and symploidy: a critical review Genet. Mol. Biol.
Guerra,Marcelo.
Abstract Agmatoploidy is a type of chromosome rearrangement that involves the fragmentation of an entire chromosome complement, generating a diploid with double its original chromosome number. Agmatoploidy and other related karyotype changes, such as symploidy (the opposite change, promoted by chromosome fusion), partial agmatoploidy, polyagmatoploidy, etc., are restricted to species with holokinetic chromosomes and are assumed to play an important role in their karyotype evolution. However, a critical review of the literature shows that examples of chromosome number doubling by agmatoploidy are rare and not clearly demonstrated, while partial agmatoploidy and partial symploidy seem to be the same as ascending and descending disploidy, respectively. It is...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Agmatoploidy; Symploidy; Holocentrics; Holokinetic chromosomes; Chromosome evolution.
Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000400492
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Genetic structure and gene flow in Eugenia dysenterica DC in the Brazilian Cerrado utilizing SSR markers Genet. Mol. Biol.
Zucchi,Maria Imaculada; Brondani,Rosana Pereira Vianello; Pinheiro,José Baldin; Chaves,Lázaro José; Coelho,Alexandre Siqueira Guedes; Vencovsky,Roland.
The ''cagaita tree'' (Eugenia dysenterica) is a plant found widespread in the Brazilian Cerrado. Its fruit is used for popular consumption and for industrial purposes. This study opens a new perspective for the generation of population genetic data and parameters estimates for devising sound collection and conservation procedures for Eugenia dysenterica. A battery of 356 primer pairs developed for Eucalyptus spp. was tested on the ''cagaita tree''. Only 10 primer pairs were found to be transferable between the two species. Using a polyacrilamide gel, an average of 10.4 alleles per locus was detected, in a sample of 116 individuals from 10 natural ''cagaita tree'' populations. Seven polymorphic loci allowed estimation of genetic parameters, including...
Tipo: Info:eu-repo/semantics/article Palavras-chave: SSR; Myrtaceae; Cerrado; Tropical tree; Genetic diversity and transferability.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000400008
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The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease Genet. Mol. Biol.
Koppe,Tiago; Doneda,Divair; Siebert,Marina; Paskulin,Livia; Camargo,Matheus; Tirelli,Kristiane Michelin; Vairo,Filippo; Daudt,Liane; Schwartz,Ida Vanessa D..
Abstract The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD patients seen at the Reference Center for Gaucher Disease of Rio Grande do Sul, Brazil, so as to gather evidence on the utility of ferritin as a biomarker of this condition. A retrospective chart review was performed collecting pre-and posttreatment data from GD patients. Eighteen patients with ferritin levels available before and after treatment were included in the study. Nine of these participants were males, and seventeen had type I GD. All patients were given either enzyme replacement (n = 16) or substrate reduction therapy...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Ferritin; Biomarkers; Gaucher disease; Iron metabolism.
Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000100030
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Mantel test in population genetics Genet. Mol. Biol.
Diniz-Filho,José Alexandre F.; Soares,Thannya N.; Lima,Jacqueline S.; Dobrovolski,Ricardo; Landeiro,Victor Lemes; Telles,Mariana Pires de Campos; Rangel,Thiago F.; Bini,Luis Mauricio.
The comparison of genetic divergence or genetic distances, estimated by pairwise F ST and related statistics, with geographical distances by Mantel test is one of the most popular approaches to evaluate spatial processes driving population structure. There have been, however, recent criticisms and discussions on the statistical performance of the Mantel test. Simultaneously, alternative frameworks for data analyses are being proposed. Here, we review the Mantel test and its variations, including Mantel correlograms and partial correlations and regressions. For illustrative purposes, we studied spatial genetic divergence among 25 populations of Dipteryx alata ("Baru"), a tree species endemic to the Cerrado, the Brazilian savannas, based on 8 microsatellite...
Tipo: Info:eu-repo/semantics/article Palavras-chave: "Baru" tree; Genetic distances; Geographical genetics; Partial correlation; Partial regression.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400002
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The Hardy-Weinberg principle Genet. Mol. Biol.
Stark,Alan E..
Hardy-Weinberg genotypic proportions can be maintained in a population under non-random mating. A compact formula gives the proportions of mating pair types. These are illustrated by some simple examples.
Tipo: Info:eu-repo/semantics/other Palavras-chave: Hardy-Weinberg equilibrium; Non-random mating.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300027
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Genotoxic and antigenotoxic effects of Fucus vesiculosus extract on cultured human lymphocytes using the chromosome aberration and Comet assays Genet. Mol. Biol.
Leite-Silva,Cleide; Gusmão,Cássia Lima Silva; Takahashi,Catarina Satie.
The brown seaweed Fucus vesiculosus (Fucales, Fucaceae) was screened for its protective activity using doxorubicin-induced DNA damage in human lymphocytes. In this study, we assessed the genotoxic and antigenotoxic potential of three different concentrations (0.25, 0.5 and 1.0 mg mL-1) of F. vesiculosus aqueous extract using the chromosome aberration and Comet assays. Treatment of human lymphocyte cultures with 0.25, 0.5 and 1.0 mg mL-1 F. vesiculosus aqueous extract had no effect on the chromosome aberration frequency or on the extent of DNA damage detected by the Comet assay. The antigenotoxic effects of the extract were tested in human lymphocyte cultures treated with 15 µg mL-1 of doxorubicin, either alone or combined with the different concentrations...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Antigenotoxicity; Chromosomal aberrations; Comet assay; Doxorubicin; Fucus vesiculosus.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100019
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Study of the length of the mouthparts of Africanized, Caucasian and Africanized/Caucasian honey bee crosses, and relationships between glossa size and food gathering behavior Genet. Mol. Biol.
Pignata,Maria Izabel Barnez; Stort,Antonio Carlos; Malaspina,Osmar.
The lengths of the mouthparts of bees, the glossa, paraglossa, stipes, galea, labial palpus, maxillary palpus, cardo, lorum, mentum and prementum, were studied in Caucasian and Africanized bees and in their F1 descendants. Only the lengths of the paraglossa, stipe, galea, mentum, prementum and maxillary palpus differed significantly between these two bee types. These six variables were studied in the F1 descendants of two types of crosses, i.e., Caucasian queens x Africanized males (cross 1) and Africanized queens x Caucasian males (cross 2). Multidimensional analyses were also performed and the generalized Mahalanobis distances (D2) between the F1 descendants and the parental lines were determined. There was an apparent dominance of Africanized bees in...
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400010
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Genetic diversity and symbiotic compatibility among rhizobial strains and Desmodium incanum and Lotus spp. plants Genet. Mol. Biol.
Granada,Camille E; Strochein,Marcos; Vargas,Luciano K; Bruxel,Manuela; Sá,Enilson Luiz Saccol de; Passaglia,Luciane M.P.
This work aimed to evaluate the symbiotic compatibility and nodulation efficiency of rhizobia isolated from Desmodium incanum, Lotus corniculatus, L. subbiflorus, L. uliginosus and L. glaber plants by cross-inoculation. Twelve reference strains and 21 native isolates of rhizobia were genetically analyzed by the BOX-PCR technique, which showed a high genetic diversity among the rhizobia studied. The isolates were also characterized based on their production of indolic compounds and siderophores, as well as on their tolerance to salinity. Fifteen of the 33 rhizobia analyzed were able to produce indolic compounds, whereas 13 produced siderophores. All the tested rhizobia were sensitive to high salinity, although some were able to grow in solutions of up to 2%...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Rhizobia; Nodulation; Nitrogen; Specificity.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000300012
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Polymorphisms of arylamine N-acetyltransferase2 and risk of lung and colorectal cancer Genet. Mol. Biol.
Mahasneh,Amjad; Jubaili,Amal; El Bateiha,Ahmed; Al-Ghazo,Mohammad; Matalka,Ismail; Malkawi,Mousa.
The arylamine N-acetyltransferase 2 (NAT2) enzymes detoxify a wide range of naturally occurring xenobiotics including carcinogens and drugs. Point mutations in the NAT2 gene result in the variant alleles M1 (NAT2 *5A), M2 (NAT2*6A), M3 (NAT2*7) and M4 (NAT2 *14A) from the wild-type WT (NAT2 *4) allele. The current study was aimed at screening genetic polymorphisms of NAT2 gene in 49 lung cancer patients, 54 colorectal cancer patients and 99 cancer-free controls, using PCR-RFLP. There were significant differences in allele frequencies between lung cancer patients and controls in the WT, M2 and M3 alleles (p < 0.05). However, only M2 and M3 allele frequencies were different between colorectal cancer patients and controls (p < 0.05). There was a...
Tipo: Info:eu-repo/semantics/article Palavras-chave: NAT2; Lung cancer; Colorectal cancer; Polymorphisms.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500003
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Analysis of energetically biased transcripts of viruses and transposable elements Genet. Mol. Biol.
Secolin,Rodrigo; Pascoal,Vinícius D'Ávila Bitencourt; Lopes-Cendes,Iscia; Pereira,Tiago Campos.
RNA interference (RNAi) is a natural endogenous process by which double-stranded RNA molecules trigger potent and specific gene silencing in eukaryotic cells and is characterized by target RNA cleavage. In mammals, small interfering RNAs (siRNAs) are the trigger molecules of choice and constitute a new class of RNA-based antiviral agents. In an efficient RNAi response, the antisense strand of siRNAs must enter the RNA-induced silencing complex (RISC) in a process mediated by thermodynamic features. In this report, we hypothesize that silent mutations capable of inverting thermodynamic properties can promote resistance to siRNAs. Extensive computational analyses were used to assess whether continuous selective pressure that promotes such mutations could...
Tipo: Info:eu-repo/semantics/article Palavras-chave: RNAi; SiRNA; Synonymous mutation; Viral evolution.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500022
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small ORFs: A new class of essential genes for development Genet. Mol. Biol.
Albuquerque,João Paulo; Tobias-Santos,Vitória; Rodrigues,Aline Cáceres; Mury,Flávia Borges; Fonseca,Rodrigo Nunes da.
Genes that contain small open reading frames (smORFs) constitute a new group of eukaryotic genes and are expected to represent 5% of the Drosophila melanogaster transcribed genes. In this review we provide a historical perspective of their recent discovery, describe their general mechanism and discuss the importance of smORFs for future genomic and transcriptomic studies. Finally, we discuss the biological role of the most studied smORF so far, the Mlpt/Pri/Tal gene in arthropods. The pleiotropic action of Mlpt/Pri/Tal in D. melanogaster suggests a complex evolutionary scenario that can be used to understand the origins, evolution and integration of smORFs into complex gene regulatory networks.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Tribolium; Mlpt; Pri; Tarsal-less; Drosophila.
Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000300278
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An analysis of the spontaneous mutation rate measurement in filamentous fungi Genet. Mol. Biol.
Baracho,Marta S.; Baracho,Ivanhoé R..
Mutations related to gene methG1 of Aspergillus nidulans were analyzed, in order to study a mathematical model for the determination of the mutation rate per nucleus per generation, in filamentous fungi. A replica plating technique was used to inoculate, in a single operation, 26 colonies of the strain, into Petri dishes containing culture medium, and the nine central colonies were analyzed for size and number of conidia in each colony. Using this technique, several central colonies were analyzed with regard to the appearance of mutation, and the number and type of reversions were determined for each colony. The frequencies obtained for each reversion were analyzed, in order to verify if their distribution was in accordance with that of Greenwood and Yule....
Tipo: Info:eu-repo/semantics/article Palavras-chave: Aspergillus nidulans; Mutation rate; Spontaneous mutation; Fungi; Filamentous fungi.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000100014
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