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5-Methyltetrahydrofolate-homocysteine methyltransferase gene polymorphism (MTR) and risk of head and neck cancer BJMBR
Galbiatti,A.L.S.; Ruiz,M.T.; Biselli-Chicote,P.M.; Raposo,L.S.; Maniglia,J.V.; Pavarino-Bertelli,E.C.; Goloni-Bertollo,E.M..
The functional effect of the A>G transition at position 2756 on the MTR gene (5-methyltetrahydrofolate-homocysteine methyltransferase), involved in folate metabolism, may be a risk factor for head and neck squamous cell carcinoma (HNSCC). The frequency of MTR A2756G (rs1805087) polymorphism was compared between HNSCC patients and individuals without history of neoplasias. The association of this polymorphism with clinical histopathological parameters was evaluated. A total of 705 individuals were included in the study. The polymerase chain reaction-restriction fragment length polymorphism technique was used to genotype the polymorphism. For statistical analysis, the chi-square test (univariate analysis) was used for comparisons between groups and...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Head and neck cancer; Polymorphism; Folate metabolism; MTR gene.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000500005
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A hemocyte gene expression signature correlated with predictive capacity of oysters to survive Vibrio infections ArchiMer
Rosa, Rafael Diego; De Lorgeril, Julien; Tailliez, Patrick; Bruno, Roman; Piquemal, David; Bachere, Evelyne.
Background: The complex balance between environmental and host factors is an important determinant of susceptibility to infection. Disturbances of this equilibrium may result in multifactorial diseases as illustrated by the summer mortality syndrome, a worldwide and complex phenomenon that affects the oysters, Crassostrea gigas. The summer mortality syndrome reveals a physiological intolerance making this oyster species susceptible to diseases. Exploration of genetic basis governing the oyster resistance or susceptibility to infections is thus a major goal for understanding field mortality events. In this context, we used high-throughput genomic approaches to identify genetic traits that may characterize inherent survival capacities in C. gigas. Results:...
Tipo: Text Palavras-chave: Marine invertebrate; Mollusk bivalve; Mass mortality; Transcriptome-wide analysis; Digital gene expression; Microfluidic qPCR; Survival signature; Polymorphism; Gene copy number; Survival predictive biomarkers.
Ano: 2012 URL: http://archimer.ifremer.fr/doc/00095/20624/18262.pdf
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A high load of non-neutral amino-acid polymorphisms explains high protein diversity despite moderate effective population size in a marine bivalve with sweepstakes reproduction ArchiMer
Harrang, Estelle; Lapegue, Sylvie; Morga, Benjamin; Bierne, Nicolas.
Marine bivalves show among the greatest allozyme diversity ever reported in Eukaryotes, putting them historically at the heart of the neutralist-selectionist controversy on the maintenance of genetic variation. Although it is now acknowledged that this high diversity is most probably a simple consequence of a large population size, convincing support for this explanation would require a rigorous assessment of the silent nucleotide diversity in natural populations of marine bivalves, which has not yet been done. This study investigated DNA sequence polymorphism in a set of 37 nuclear loci in wild samples of the flat oyster Ostrea edulis. Silent diversity was found to be only moderate (0.7%), and there was no departure from demographic equilibrium under the...
Tipo: Text Palavras-chave: Nucleotide; Polymorphism; Marine bivalve; Deleterious; Mutations; Genetic load; Ostrea edulis.
Ano: 2013 URL: http://archimer.ifremer.fr/doc/00125/23610/21444.pdf
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A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil Genet. Mol. Biol.
Oliveira,Raimundo Antonio G.; Oshiro,Marilena; Hirata,Mario H.; Hirata,Rosario D.C.; Ribeiro,Georgina S.; Medeiros,Tereza M.D.; Barretto,Orlando C. de O..
In this study, we used red cell glucose-6-phosphate dehydrogenase (G6PD) activity to screen for G6PD-deficient individuals in 373 unrelated asymptomatic adult men who were working with insecticides (organophosphorus and carbamate) in dengue prevention programs in 27 cities in São Paulo State, Brazil. Twenty-one unrelated male children suspected of having erythroenzymopathy who were attended at hospitals in São Paulo city were also studied. Fifteen of the 373 adults and 12 of the 21 children were G6PD deficient. G6PD gene mutations were investigated in these G6PD-deficient individuals by using PCR-RFLP, PCR-SSCP analysis and DNA sequencing. Twelve G6PD A-202A/376G and two G6PD Seattle844C, as well as a new variant identified as G6PD São Paulo, were detected...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Glucose-6-phosphate dehydrogenase; Mutations; Polymorphism; Variants.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000200007
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A novel polymorphism in the coding region of the vasopressin type 2 receptor gene BJMBR
Nephrogenic diabetes insipidus (NDI) is a rare disease characterized by renal inability to respond properly to arginine vasopressin due to mutations in the vasopressin type 2 receptor (V2(R)) gene in affected kindreds. In most kindreds thus far reported, the mode of inheritance follows an X chromosome-linked recessive pattern although autosomal-dominant and autosomal-recessive modes of inheritance have also been described. Studies demonstrating mutations in the V2(R) gene in affected kindreds that modify the receptor structure, resulting in a dys- or nonfunctional receptor have been described, but phenotypically indistinguishable NDI patients with a structurally normal V2(R) gene have also been reported. In the present study, we analyzed exon 3 of the...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Vasopressin; Receptor; Polymorphism; Diabetes insipidus; Receptor gene polymorphism.
Ano: 1997 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1997000400002
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A Novel Polymorphism of VLDLR Signal Peptide Coding Region and Its Association with Growth and Abdominal Fat Traits of Gaoyou Domestic Ducks Rev. Bras. Ciênc. Avic.
Ming-liang,C; Cong,W; Xuan,D; Lu,L; Tang-jie,Z.
ABSTRACT The VLDLR gene plays important roles in the growth and adiposity in humans and mice. The purpose of this study was to investigate the relationship between VLDLR gene genetic polymorphisms and growth and abdominal fat traits of the Gaoyou domestic duck. A total of 267 Gaoyou ducks were employed for testing. A 18bp deletion was identified in VLDLR signal peptide coding region. The results of c2 test suggested that the genotype frequencies of VLDLR signal peptide coding region were not in Hardy-Weinberg equilibrium. Least squares analysis showed that body weight (BW) of -18bp/-18bp genotype ducks was significantly higher than those of other genotypes from six (BW6) (p<0.05) to ten weeks of age (BW10) (p<0.01). The association analysis was...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Polymorphism; VLDLR; Abdominal fat trait; Growth; Duck.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-635X2017000400577
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A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients Biol. Res.
GONZÁLEZ,RODRIGO; TIRADO,ARES; BALANDA,MONSERRAT; ALVO,MIRIAM; BARQUÍN,INÉS; DURRUTY,PILAR; LOBOS,SERGIO; SEELENFREUND,DANIELA.
Diabetic nephropathy (DN) is one of the major complications of type 2 diabetes and is associated with coronary disease. Nephrin, a protein mainly expressed in glomeruli, is decreased in DN and other kidney diseases. Since insulin levels are misregulated in type 2 diabetes, a possible connection between DN and its decreased nephrin expression could be the presence of regulatory elements responsive to insulin in the nephrin gene (NPHS1) promoter region. In this work, using bioinformatic tools, we identified a purine-rich GAGA element in the nephrin gene promoter and conducted a genomic study in search of the presence of polymorphisms in this element and its possible association with DN in type 2 diabetic patients. We amplified and sequenced a 514 bp promoter...
Tipo: Journal article Palavras-chave: GAGA box; Gene promoter; Nephrin; Polymorphism.
Ano: 2007 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602007000400010
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A SNP in 5′ untranslated region of CD40 gene is associated with an increased risk of ischemic stroke in a Chinese population: a case-control study Genet. Mol. Biol.
Huang,Hua-Tuo; Guo,Jing; Xiang,Yang; Chen,Jian-Ming; Luo,Hong-Cheng; Meng,Lan-Qing; Wei,Ye-Sheng.
Abstract Cluster of differentiation 40 (CD40), the receptor for CD154, is a member of the tumor necrosis factor (TNF) receptor superfamily. Several studies have been conducted to investigate the effect of the CD40 rs1883832 polymorphism on atherosclerotic disease in different population; however, inconsistent results were obtained. In this study, we investigated the association of four polymorphisms (rs1883832, rs13040307, rs752118 and rs3765459) of CD40 gene and their effect on CD40 expression with the risk of ischemic stroke (IS) in a Chinese population. Three hundred and eighty patients with IS and 450 control subjects were included in the study. The CD40 polymorphisms were discriminated by Snapshot SNP genotyping assay. Serum soluble CD40 (sCD40)...
Tipo: Info:eu-repo/semantics/article Palavras-chave: CD40; Gene; Polymorphism; Ischemic stroke.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300442
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ABCB1 C1236T, G2677T/A and C3435T polymorphisms in systemic lupus erythematosus patients BJMBR
Gonzalez,T.P.; Mucenic,T.; Brenol,J.C.T.; Xavier,R.M.; Schiengold,M.; Chies,J.A.B..
P-glycoprotein (Pgp), the ABCB1 gene product, acts as an efflux pump that transports a large variety of substrates and is a mechanism of cell protection against xenobiotics. An increasing number of studies have shown that some ABCB1 polymorphisms may affect Pgp expression and activity, as well as affecting the development and susceptibility to diseases and pharmacological response. High activity of Pgp has been detected in systemic lupus erythematosus (SLE) patients. The C1236T, G2677T/A, and C3435T are the most commonly studied single nucleotide polymorphisms in the ABCB1 gene. Therefore, their frequencies were determined in Brazilian individuals with European ancestry (N = 143) and in SLE patients (N = 137). Genotyping was performed by PCR-RFLP analysis...
Tipo: Info:eu-repo/semantics/other Palavras-chave: ABCB1; MDR1; P-glycoprotein; Polymorphism; Systemic lupus erythematosus.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000900005
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Acid phosphatase polymorphism within and among populations of Cauliflower (Brassica oleracea var botrytis) Genet. Mol. Biol.
Marino,Celso Luis; Gimenes,Marcos Aparecido; Silva,Norberto da; Lopes,Catalina Romero.
Eighty-one lines of cauliflower (Brassica oleracea var. botrytis) from 12 populations used to produce commercial hybrids in Brazil were screened for polymorphism in the acid phosphatase system, in order to evaluate the usefulness of this marker for the determination of the parental contamination level in hybrid seeds. Little polymorphism was detected in the examined lines, but the system appeared to be very useful for hybrid identification, since the only condition required was polymorphism between the two parental lines. If the analyzed lines were used for hybrid production, 8.4% and 12.3% of the possible crosses would result in hybrids which can be positively identified using the APS-1 and B1 loci, respectively. If only one plant of each homozygous type...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Isoenzyme; Polymorphism; Cauliflower.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100015
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Adiponectin promoter polymorphisms are predictors of lipid profile improvement after bariatric surgery Genet. Mol. Biol.
Gasparotto,Aline Simas; Borges,Diego Olschowsky; Zandoná,Marília Remuzzi; Ramos,Mauricio Jacques; Meihnardt,Nelson Guardiola; Mattevi,Vanessa S..
Abstract Our aim was to investigate if single nucleotide polymorphisms (SNPs) located in the 5′ regions of leptin (LEP, -2548 G > A, rs7799039), resistin (RETN, -420 C > G, rs1862513) and adiponectin (ADIPOQ, -11391 G > A, rs17300539 and -11377 C > G, rs266729) genes were related to changes in body mass index (BMI) and metabolic variables after bariatric surgery in 60 extremely obese individuals. At baseline, ADIPOQ -11391 A-allele carriers showed higher plasma adiponectin and lower total cholesterol levels when compared to G/G homozygotes. Approximately 32 months post-surgery, a mean reduction of 35% in BMI and an important improvement in metabolic profiles were observed. In addition, for the ADIPOQ -11377 polymorphism, a higher decrease in...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Adiponectin; Polymorphism; Obesity; Lipid profile; Bariatric surgery.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500736
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Alelle number and heterozigosity for microsatellite loci in different stingless bee species (Hymenoptera: Apidae, Meliponini) Neotropical Entomology
Francisco,Flávio de O.; Brito,Rute M.; Arias,Maria C..
In the present study we compare genetic characteristics (allele diversity and observed heterozygosity) of microsatellite loci, from three stingless bee species (Plebeia remota Holmberg, Partamona mulata Moure In Camargo and Partamona helleri Friese), amplified by using heterospecific primers originally designed for Melipona bicolor Lepeletier and Scaptotrigona postica Latreille. We analyzed 360 individuals of P. remota from 72 nests, 58 individuals of P. mulata from 58 nests, and 47 individuals of P. helleri from 47 nests. The three species studied showed low level of polymorphism for the loci amplified with primers derived from M. bicolor. However, for the loci amplified with primers derived from S. postica, only P. remota presented low level of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Plebeia remota; Partamona mulata; Partamona helleri; Heterozygosity; Polymorphism.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1519-566X2006000500011
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Allozyme comparison of two populations of Rineloricaria (Siluriformes, Loricariidae) from the Ivaí River, upper Paraná River basin, Brazil Genet. Mol. Biol.
Limeira,Daniel M.; Renesto,Erasmo; Zawadzki,Cláudio H..
Two allopatric morphotypes of the genus Rinelocaria were compared through the allozyme electrophoresis technique: one morphotype, R. pentamaculata, from the Keller River in the middle stretch of the Ivaí River basin and the other, R. aff. pentamaculata, from the São João River in the upper portion of the Ivaí River basin. The morphotype from the São João River was collected upstream from the São João waterfall, which is about 80 m deep. Twelve enzymatic systems (AAT, ADH, EST, GCDH, G3PDH, GPI, IDH, LDH, MDH, ME, PGM and SOD) were analyzed, which allowed to score 22 loci. Only loci Aat-2, Est-3 and Mdh-C showed polymorphism. The two samples differed in allele frequencies at the three polymorphic loci. The average expected heterozygosity for all loci was...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Allozymes; Fish genetics; Genetic distance; Polymorphism; Loricariidae; Pisces.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000200034
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Amplification of microsatellites in two haemulid species (Haemulon aurolineatum and Haemulon steindachneri) Boletín de Investigaciones
Pabón Quintero,Paula E.; Tavera,José Julián; Millán-Márquez,Ana María; Acero P,Arturo.
ABSTRACT Genetic-population studies in marine fish have allowed to study patterns of dispersal and connectivity between habitats. One important tool in population genetics is the use of microsatellite molecular markers. Cross-amplification of microsatellite is a method that consists in using primers designed for one species in a different one but phylogenetically related. Because of the importance of genetic studies of populations in artisanal fisheries species, primers were evaluated and designed for the species Haemulon aurolineatum and Haemulon steindachneri. Samples were collected from the artisanal fisheries in Baru-Colombia. Amplification was standardized for 12 microsatellites which ten were polymorphic for H. aurolineatum and nine for H....
Tipo: Journal article Palavras-chave: Haemulidae; Grunts; Primers; Polymorphism; Population genetics.
Ano: 2018 URL: http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0122-97612018000100151
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An analysis of morpho-agronomic traits, isozyme polymorphism, and cross compatibility of traditional rices (Oryza sativa L.) of Bhutan International Rice Research Institute
Chettri, Ganesh B..
122 leaves : ill. Thesis (M.S.) -- University of the Philippines at Los Baños
Tipo: Thesis Palavras-chave: Rice; Cold tolerance; Agronomic traits; Isozymes; Polymorphism; Variety trials; Varieties; Bhutan.
Ano: 1992 URL: http://hdl.handle.net/123456789/904
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Análisis de la diversidad genética de variedades nativas de chile "Poblano" por medio de microsatélites. Colegio de Postgraduados
Contreras Toledo, Aremi Rebeca.
A partir de la domesticación de chile (Capsicum annuum L.) en México, se ha generado una gran diversidad dentro de esta especie en nuestro país, derivada de la selección de los agricultores para diferentes usos, siendo el chile Poblano uno de los más importantes y el más representativo del Estado de Puebla; sin embargo, el rendimiento de chile poblano en esta región ha presentado una reducción en los últimos años, debido, en parte, a la falta de semilla mejorada que debe ser seleccionada con base en las necesidades de los propios productores, existiendo la potencial pérdida de este germoplasma. Los objetivos de este estudio fueron estimar la diversidad genética y determinar sus posibles patrones de distribución, diferenciar grupos genéticos de variedades y...
Palavras-chave: Capsicum annuum; SSR; Polimorfismo; Diferenciación genética; Polymorphism; Genetic differentiation; Maestría; Genética.
Ano: 2011 URL: http://hdl.handle.net/10521/400
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Análisis de la diversidad genética de variedades nativas de chile "Poblano" por medio de microsatélites. Colegio de Postgraduados
Contreras Toledo, Aremi Rebeca.
A partir de la domesticación de chile (Capsicum annuum L.) en México, se ha generado una gran diversidad dentro de esta especie en nuestro país, derivada de la selección de los agricultores para diferentes usos, siendo el chile Poblano uno de los más importantes y el más representativo del Estado de Puebla; sin embargo, el rendimiento de chile poblano en esta región ha presentado una reducción en los últimos años, debido, en parte, a la falta de semilla mejorada que debe ser seleccionada con base en las necesidades de los propios productores, existiendo la potencial pérdida de este germoplasma. Los objetivos de este estudio fueron estimar la diversidad genética y determinar sus posibles patrones de distribución, diferenciar grupos genéticos de variedades y...
Palavras-chave: Capsicum annuum; SSR; Polimorfismo; Diferenciación genética; Polymorphism; Genetic differentiation; Maestría; Genética.
Ano: 2011 URL: http://hdl.handle.net/10521/400
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Analysis of genetic diversity and population structure in Argentine and Bolivian Creole cattle using five loci related to milk production Genet. Mol. Biol.
Lirón,J.P.; Ripoli,M.V.; De Luca,J.C.; Peral-García,P.; Giovambattista,G..
Data from five protein-coding loci related to dairy production were used to study the genetic diversity and population structure of Argentine and Bolivian Creole cattle breeds. Genomic DNA was extracted from blood samples of six Creole cattle breeds: Argentine (n = 230), Patagonian (n = 25); "Saavedreño" (n = 140), "Chaqueño Boliviano" (n = 30), "Yacumeño" (n = 27), and "Chusco" (n = 11). kappa-casein, beta-lactoglobulin, growth hormone and prolactin were measured by PCR-RFLP, while alphaS1-casein was typed by PCR-ASO. The results are discussed, focusing on: historical origin, recent differentiation and selection events, Zebu gene introgression, and population structure. This work shows that: (i) For the studied genes, the observed gene frequency profiles...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Creole cattle; Polymorphism; Genetic diversity; Molecular markers.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000400010
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Analysis of the CCR5 gene coding region diversity in five South American populations reveals two new non-synonymous alleles in Amerindians and high CCR5*D32 frequency in Euro-Brazilians Genet. Mol. Biol.
Boldt,Angelica B.W.; Culpi,Lodércio; Tsuneto,Luiza T.; Souza,Ilíada R.; Kun,Jürgen F.J.; Petzl-Erler,Maria Luiza.
The CC chemokine receptor 5 (CCR5) molecule is an important co-receptor for HIV. The effect of the CCR5*D32 allele in susceptibility to HIV infection and AIDS disease is well known. Other alleles than CCR5*D32 have not been analysed before, neither in Amerindians nor in the majority of the populations all over the world. We investigated the distribution of the CCR5 coding region alleles in South Brazil and noticed a high CCR5*D32 frequency in the Euro-Brazilian population of the Paraná State (9.3%), which is the highest thus far reported for Latin America. The D32 frequency is even higher among the Euro-Brazilian Mennonites (14.2%). This allele is uncommon in Afro-Brazilians (2.0%), rare in the Guarani Amerindians (0.4%) and absent in the Kaingang...
Tipo: Info:eu-repo/semantics/article Palavras-chave: CCR5; Brazilian; Amerindian; HIV; Polymorphism.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000100002
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Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy Biol. Res.
GONZÁLEZ,RODRIGO; TIRADO,ARES; ROJAS,LUIS A; OSSANDÓN,FRANCISCO J; ALVO,MIRIAM; WOLFF,CARLOS; SEELENFREUND,DANIELA; DURRUTY,PILAR; LOBOS,SERGIO.
We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients. The frequency of the single nucleotide polymorphism rs#466452 in the nephrin gene was determined in 231 patients and control subjects. The C/T status of the polymorphism was assessed using restriction enzyme digestions and the nephrin transcript from a kidney biopsy was examined. Association between the polymorphism and clinical parameters was evaluated using multivaríate correspondence analysis. A bioinformatics analysis of the single nucleotide polymorphism rs#466452 suggested the appearance of a splicing enhancer sequence in intron 24 of the nephrin gene and a...
Tipo: Journal article Palavras-chave: Diabetic nephropathy; NPHS1; Polymorphism; Splicing enhancer.
Ano: 2009 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000200007
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