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Association study of AFF1 rs340630 polymorphism with genetic susceptibility to rheumatoid arthritis in Chinese population BJMBR
Sun,Qing-Qing; Hua,Dong-Jin; Huang,Si-Chao; Cen,Han; Zhou,Li; Shao,Song.
This study was performed to examine whether the AF4/FMR2 family, member 1 (AFF1) rs340630 polymorphism is involved in the genetic background of rheumatoid arthritis (RA) in a Chinese population. Two different study groups of RA patients and controls (328 RA patients and 449 healthy controls in the first study group; 232 RA patients and 313 controls in the second study group) were included in our study. Overall, there was no significant difference in either genotype (P=0.71 and 0.64 in the first and second study group, respectively) nor allele (in the first study group: A vs G, P=0.65, OR=1.05, 95%CI=0.85–1.29; in the second study group: G vs A, P=0.47, OR=1.10, 95%CI=0.86–1.40) frequencies of AFF1 rs340630 polymorphism between RA patients and controls. Our...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Rheumatoid arthritis; AFF1; Polymorphism; Chinese.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000700606
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Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies BJMBR
Li,M.; Wang,L.; Wang,W.; Qi,X.L.; Tang,Z.Y..
Iron homeostasis dysregulation has been regarded as an important mechanism in neurodegenerative diseases. The H63D and C282Y polymorphisms in theHFE gene may be involved in the development of sporadic amyotrophic lateral sclerosis (ALS) through the disruption of iron homeostasis. However, studies investigating the relationship between ALS and these two polymorphisms have yielded contradictory outcomes. We performed a meta-analysis to assess the roles of the H63D and C282Y polymorphisms of HFEin ALS susceptibility. PubMed, MEDLINE, EMBASE, and Cochrane Library databases were systematically searched to identify relevant studies. Strict selection criteria and exclusion criteria were applied. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Amyotrophic lateral sclerosis; HFE; C282Y; H63D; Polymorphism; Meta-analysis.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014000300215
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Genetic variation of aggrecanase-2 (ADAMTS5) in susceptibility to osteoarthritis BJMBR
Zhou,Xindie; Jiang,Lifeng; Zhang,Yi; Zhang,Junjie; Zhou,Dong; Wu,Lidong; Huang,Yong; Xu,Nanwei.
Aggrecanase-2 (ADAMTS5) gene is responsible for aggrecan degradation that may contribute to cartilage destruction in a mouse osteoarthritis (OA) model. We aimed to investigate the effects of ADAMTS5 gene polymorphisms on OA risk in a Chinese population. A total of 300 OA patients and 300 controls were recruited and their genotypes for ADAMTS5 gene rs226794 and rs2830585 polymorphisms were determined using a custom-by-design 48-Plex single nucleotide polymorphism Scan™ kit. ADAMTS5-associated genes were identified by co-expression analysis and their functions were investigated by Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses. Bioinformatics analysis showed that ADAMTS5 was significantly related to the components, structural constituent,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: ADAMTS5; Polymorphism; Osteoarthritis; Co-expression analysis.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2019000200602
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Association between tumor necrosis factor alpha rs1800629 polymorphism and risk of osteoarthritis in a Chinese population BJMBR
Chen,Jie; Wu,Yu; Yu,Jiannong; Shen,Jinming.
Osteoarthritis (OA) is the most common degenerative disease affecting articular cartilage. Some studies indicate that tumor necrosis factor alpha (TNF-α) gene rs1800629 polymorphism was associated with OA risk among Caucasian populations. To examine the role of this candidate gene in Asian populations, we conducted a hospital-based case-control study involving 257 knee OA patients and 305 controls in a Chinese population. Genotyping was performed using a custom-by-design 48-Plex single nucleotide polymorphism (SNP) Scan™ kit. Our study indicated that the AA genotype of TNF-α rs1800629 polymorphism was associated with increased risk of OA. Subsequently, we conducted a meta-analysis and found that rs1800629 polymorphism increased the risk of OA in the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: TNF-α; Osteoarthritis; Polymorphism; Meta-analysis.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000800604
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Effect of estrogen receptor-alpha (ESR1) gene polymorphism on high density lipoprotein levels in response to hormone replacement therapy BJMBR
Nogueira-de-Souza,N.C.; Guerreiro da Silva,I.D.C.; de Carvalho,C.V.; Pulchinelli,A.; Haidar,M.A.; Baracat,E.C.; Massad-Costa,A.M..
Studies have shown that estrogen replacement therapy and estrogen plus progestin replacement therapy alter serum levels of total, LDL and HDL cholesterol levels. However, HDL cholesterol levels in women vary considerably in response to hormone replacement therapy (HRT). A significant portion of the variability of these levels has been attributed to genetic factors. Therefore, we investigated the influence of estrogen receptor-alpha (ESR1) gene polymorphisms on HDL levels in response to postmenopausal HRT. We performed a prospective cohort study on 54 postmenopausal women who had not used HRT before the study and had no significant general medical illness. HRT consisted of conjugated equine estrogen and medroxyprogesterone acetate continuously for 1 year....
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hormone replacement therapy; High-density lipoprotein cholesterol levels; Estrogen receptor-alpha; Polymorphism.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009001200003
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Association between MCP-1 -2518A>G polymorphism and asthma susceptibility: a meta-analysis BJMBR
Chen,Wenli; Cui,Jiewei; Xiang,Guoan; Zhang,Jianpeng; Gao,Hongmei.
The published data on the association between MCP-1 -2518A>G polymorphism and asthma susceptibility are inconclusive. Therefore, we performed a meta-analysis to estimate the impact of MCP-1 -2518A>G polymorphism on asthma susceptibility. PubMed, Web of Science, Wanfang, and China National Knowledge Infrastructure (CNKI) databases were used to identify eligible studies. The pooled odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were used to calculate the strength of association. Sensitivity analysis was performed to evaluate the influence of individual studies on the estimates of overall effect, and funnel plots and Egger's test were used to assess publication bias. Eight publications with 1562 asthma patients and 1574 controls were...
Tipo: Info:eu-repo/semantics/article Palavras-chave: MCP-1; Polymorphism; Asthma; Susceptibility; Meta-analysis.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2019001100602
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Association between Toll-like receptor 4 Asp299Gly polymorphism and coronary heart disease susceptibility BJMBR
Wu,B.W.; Zhu,J.; Shi,H.M.; Jin,B.; Wen,Z.C..
Published data on the association between Toll-like receptor 4 (TLR4) Asp299Gly polymorphism and coronary heart disease (CHD) susceptibility are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. English-language studies were identified by searching PubMed and Embase databases (up to November 2016). All epidemiological studies were regarding Caucasians because no TLR4 Asp/Gly and Gly/Gly genotypes have been detected in Asians. A total of 20 case-control studies involving 14,416 cases and 10,764 controls were included in the meta-analysis. Overall, no significant associations were found between TLR4 Asp299Gly polymorphism and CHD susceptibility in the dominant model (OR=0.89; 95%CI=0.74 to 1.06; P=0.20)...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Toll-like receptor 4; Polymorphism; Coronary heart disease; Meta-analysis.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2017000900609
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Genetic susceptibility to HPV infection and cervical cancer BJMBR
Maciag,P.C.; Villa,L.L..
Squamous cell carcinoma of the cervix (SCCC) is one of the leading causes of death in developing countries. Infection with high-risk human papillomavirus (HPV) is the major risk factor to develop malignant lesions in the cervix. Polymorphisms of the MHC and p53 genes seem to influence the outcome of HPV infection and progression to SCCC, although controversial data have been reported. MHC are highly polymorphic genes that encode molecules involved in antigen presentation, playing a key role in immune regulation, while p53 is a tumor suppressor gene that regulates cell proliferation. The HPV E6 protein from high-risk types binds p53 and mediates its degradation by the ubiquitin pathway. The role of these polymorphisms in genetic susceptibility to HPV...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Human papillomavirus; Cervical cancer; HLA; P53; Polymorphism.
Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000700017
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CYP2A6 and CYP2E1 polymorphisms in a Brazilian population living in Rio de Janeiro BJMBR
Rossini,A.; Soares Lima,S.; Rapozo,D.C.M.; Faria,M.; Albano,R.M.; Ribeiro Pinto,L.F..
Cytochrome P450 (CYP) is a superfamily of enzymes involved in the metabolism of endogenous compounds and xenobiotics. CYP2A6 catalyzes the oxidation of nicotine and the activation of carcinogens such as aflatoxin B1 and nitrosamines. CYP2E1 metabolizes ethanol and other low-molecular weight compounds and can also activate nitrosamines. The CYP2A6 and CYP2E1 genes are polymorphic, altering their catalytic activities and susceptibility to cancer and other diseases. A number of polymorphisms described are ethnic-dependent. In the present study, we determined the genotype and allele frequencies of the main CYP2A6 and CYP2E1 polymorphisms in a group of 289 volunteers recruited at the Central Laboratory of Hospital Universitário Pedro Ernesto. They had been...
Tipo: Info:eu-repo/semantics/article Palavras-chave: CYP2A6; CYP2E1; Polymorphism; Brazil; Ethnic groups.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000200005
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Trypanosoma cruzi: amastigote polymorphism defined by monoclonal antibodies BJMBR
Verbisck,N.V.; Da-Silva,S.; Mortara,R.A..
We have raised monoclonal antibodies (mAbs) directed towards amastigote forms of Trypanosoma cruzi, and shown that mAbs 1D9 and 4B9 are carbohydrate while mAb 4B5 activity is resistant to periodate oxidation of the antigen. Here we used an ELISA to quantitate and compare the expression of surface epitopes on fixed parasites among different parasite isolates. The expression of markers varied among T. cruzi amastigotes isolated from infected cells or after extracellular differentiation of trypomastigotes. Moreover, we also observed an extensive polymorphic expression of these epitopes among amastigotes derived from different strains and clones. For instance, mAb 2C2 strongly and evenly reacted with 9 strains and clones (G, Y, CL, Tulahuen, MD, and F, and...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Trypanosoma cruzi; Amastigote; Monoclonal antibodies; Surface antigen; Polymorphism.
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998001200011
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Typing class I HLA-A gene using a nested PCR-RFLP procedure BJMBR
Castelli,E.C.; Gil,D.S.; Veiga,L.C.S.; de Camargo,J.L.V..
In order to detect several new HLA-A class I alleles that have been described since 1998, the original PCR-RFLP method developed to identify the 78 alleles recognized at that time at high resolution level was adapted by us for low and medium resolution levels using a nested PCR-RFLP approach. The results obtained from blood samples of 23 subjects using both the PCR-RFLP method and a commercial kit (MicroSSP1A®, One Lambda Inc.) showed an agreement higher than 95%. The PCR-RFLP adapted method was effective in low and medium resolution histocompatibility evaluations.
Tipo: Info:eu-repo/semantics/other Palavras-chave: Human leukocyte antigen-A; HLA-A; Typing; RFLP; Polymorphism; Major histocompatibility complex.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000600004
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The P48T germline mutation and polymorphism in the CDKN2A gene of patients with melanoma BJMBR
Huber,J.; Ramos,E.S..
CDKN2A has been implicated as a melanoma susceptibility gene in some kindreds with a family history of this disease. Mutations in CDKN2A may produce an imbalance between functional p16ink4a and cyclin D causing abnormal cell growth. We searched for germline mutations in this gene in 22 patients with clinical criteria of hereditary cancer (early onset, presence of multiple primary melanoma or 1 or more first- or second-degree relatives affected) by secondary structural content prediction, a mutation scanning method that relies on the propensity for single-strand DNA to take on a three-dimensional structure that is highly sequence dependent, and sequencing the samples with alterations in the electrophoretic mobility. The prevalence of CDKN2A mutation in our...
Tipo: Info:eu-repo/semantics/other Palavras-chave: CDKN2A; Familial melanoma; Mutation; P48T; Polymorphism.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000200010
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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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The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome BJMBR
Biselli,J.M; Goloni-Bertollo,E.M; Haddad,R; Eberlin,M.N; Pavarino-Bertelli,E.C.
Individuals with Down syndrome (DS) present decreased homocysteine (Hcy) concentration, reflecting a functional folate deficiency secondary to overexpression of the cystathionine ß-synthase gene. Since plasma Hcy may be influenced by genetic polymorphisms, we evaluated the influence of C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR), of A2756G polymorphism in the methionine synthase gene (MTR), and of A80G polymorphism in the reduced folate carrier 1 gene on Hcy concentrations in Brazilian DS patients. Fifty-six individuals with free trisomy 21 were included in the study. Plasma Hcy concentrations were measured by liquid chromatography_tandem mass spectrometry with linear regression coefficient r² = 0.9996, average...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Down syndrome; Trisomy 21; Polymorphism; Homocysteine; Mass spectrometry (LC-MS/MS).
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000100006
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Correlation between interleukin-18promoter -607C/A polymorphism and susceptibility to ischemic stroke BJMBR
Lu,Jian-xia; Lu,Zhong-qian; Zhang,Shao-lan; Zhi,Juan; Chen,Zheng-ping; Wang,Wan-xiang.
Single nucleotide polymorphisms in the promoter region ofinterleukin-18 (IL-18), an inflammatory cytokine, have been linked to susceptibility to many diseases, including cancer and immune dysfunction. Here, we explored the potential association between theIL-18 -607C/A (rs1946518) promoter region polymorphism and susceptibility to ischemic stroke (IS). This locus was amplified from peripheral blood samples of 386 IS patients (cases) and 364 healthy individuals (controls) by the polymerase chain reaction with sequence-specific primers. Significant differences were observed by the χ2 test in the -607C/A (rs1946518) genotype and allele frequencies between cases and controls (P < 0.05). Furthermore, after excluding for age, gender, smoking status, and...
Tipo: Info:eu-repo/semantics/article Palavras-chave: IL-18; Polymorphism; Ischemic stroke; Correlation.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2013000600502
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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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HLA-DR3 antigen in the resistance to idiopathic dilated cardiomyopathy BJMBR
Jin,B.; Wu,B.W.; Wen,Z.C.; Shi,H.M.; Zhu,J..
Idiopathic dilated cardiomyopathy (IDC) has been hypothesized as a multifactorial disorder initiated by an environment trigger in individuals with predisposing human leukocyte antigen (HLA) alleles. Published data on the association between HLA-DR3 antigen and IDC risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. Studies were identified by searching the PUBMED and Embase database (starting from June 2015). A total of 19 case-control studies including 1378 cases and 10383 controls provided data on the association between HLA-DR3 antigen and genetic susceptibility to IDC. Overall, significantly decreased frequency of HLA-DR3 allele (OR=0.72; 95%CI=0.58-0.90; P=0.004) was found in patients with IDC...
Tipo: Info:eu-repo/semantics/article Palavras-chave: HLA-DR; Dilated cardiomyopathy; Polymorphism; Meta-analysis.
Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016000400708
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Association of the 894G>T polymorphism of the endothelial constitutive nitric oxide synthase gene with unstable angina BJMBR
Iturry-Yamamoto,G.R.; Moriguchi,E.H.; Zago,A.C.; Alho,C.S.; Zago,A.J..
The 894G>T polymorphism of the endothelial constitutive nitric oxide synthase gene consists of the substitution of a guanine base by a thymine at the 894th nucleotide of the gene. An association of this polymorphism with acute coronary syndromes has been described, only when in combination with other polymorphisms of this gene. The aim of the present study was to search for an association between this polymorphism and unstable angina in a southern Brazilian population. In a case-control study, 156 patients (group 1 (N = 83): unstable angina, group 2 (N = 73): stable angina) were genotyped by PCR and digestion of the product. Univariate analysis demonstrated that the minimal luminal diameter and the degree of stenosis of the culprit lesion differed...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Nitric oxide synthase; Gene; Polymorphism; Unstable angina; Coronary.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000400005
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Meta-analysis of the association between PADI4 -92C/G polymorphism and rheumatoid arthritis in the Chinese population BJMBR
Guo,Z.Y.; Zhang,J.X.; Wu,M.; Mei,Y.F.; Lin,X.J.; Bu,C.; Xie,Y.; Wang,J..
Many studies have evaluated the correlation between peptidylarginine deiminase 4 (PADI4) -92C/G polymorphism and rheumatoid arthritis (RA), but the results remain inconclusive. Therefore, we performed a meta-analysis in the Chinese population to provide comprehensive data on the association between PADI4 -92C/G polymorphism and RA. Eligible studies published before May 2016 were identified in PubMed and Chinese databases. The strengths of these associations were assessed by pooled odds ratios (OR) and 95% confidence interval (CI). Eight studies documenting a total of 1351 RA cases and 1585 controls were included in this meta-analysis. In the overall analysis, a significant association between the PADI4 -92C/G polymorphism and RA was found in the Chinese...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Meta-analysis; Peptidylarginine deiminase 4; Polymorphism; Rheumatoid arthritis.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2017001000605
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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
Registros recuperados: 190
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