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Registros recuperados: 29
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21-Hydroxylase deficiency in Brazil BJMBR
Bachega,T.A.S.S.; Billerbeck,A.E.C.; Madureira,G.; Marcondes,J.A.M.; Longui,C.A.; Leite,M.V.; Arnhold,I.J.P.; Mendonça,B.B..
We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4%) than in most of the previous series described, whereas the frequency of large gene conversions was similar to the frequency reported in the literature (6.6%). The most frequent point mutations were I2 splice (41.8% in salt wasting - SW), I172N (32.6% in simple virilizing - SV) and V281L (40.2% in the late onset form - LO). The frequency of the nine most common point mutations was similar to that reported for other countries. The 93 fully genotyped patients were classified into 3 mutation groups based on the degree of enzymatic activity...
Tipo: Info:eu-repo/semantics/article Palavras-chave: 21-hydroxylase deficiency; Congenital adrenal hyperplasia; Brazilian patients; CYP21 mutations; Genotype; Phenotype.
Ano: 2000 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000011
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Assessment of stability of expression of various male-sterile genes in muskmelon in sub-tropical field conditions National Institute of Agronomic Research
Dhillon, N.P.S.; Kumar, J..
Five melon (Cucumis melo L.) progenies segregating for five male-sterile genes (ms-1, ms-2, ms-3, ms-4, and ms-5) along with two male-fertile cultivars were evaluated for phenotypic variation in expression of fertility in sub-tropical field conditions, for two years. Male-fertile plants of three progenies of ms-1, ms-2, and ms-3 were phenotypically unstable and produced more male-sterile flowers than plants of normal male-fertile cultivars. Progenies of ms-4 and ms-5 were stable for the expression of male-fertile plants.
Tipo: Poster Palavras-chave: Cucumis melo; Phenotype; Stability; Hybrid; Male-sterility.
Ano: 2008 URL: http://hdl.handle.net/2174/260
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Banco de Dados de Genótipos e Fenótipos (BDGF) para suporte a estudos de associação genômica ampla e seleção genômica em programas de melhoramento animal. Infoteca-e
HIGA, R. H.; OLIVEIRA, G. B. de.
Este documento complementa os trabalhos previamente desenvolvidos, apresentando um modelo de dados para armazenamento de dados de genótipos, fenótipos e pedigree de animais de interesse agropecuário para suporte tanto a experimentos de GWAS quanto a programas de melhoramento genético animal, Banco de Dados de Genótipos e Fenótipos(BDGF).
Tipo: Documentos (INFOTECA-E) Palavras-chave: Associação genômica; Genome-wide association studies.; Genótipo; Fenótipo; Melhoramento Animal.; Genotype; Phenotype; Genetic improvement.
Ano: 2015 URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1022327
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Biochemical and molecular investigations on qualitative and quantitative Hb polymorphism in the river buffalo (Bubalus bubalis L.) population reared in Southern Italy Genet. Mol. Biol.
Iorio,Mario; Vincenti,Donatella; Annunziata,Mario; Rullo,Rosario; Bonamassa,Raffaele; Di Luccia,Aldo; Pieragostini,Elisa.
On 398 river buffalo samples, randomly collected in distinct breeding areas of the Campania region, high-resolution analytical systems were used to identify both qualitative and quantitative variations of the Hb phenotype. Polyacrylamide gel isoelectric focusing and HPLC were used to determine the ratio between HBA1 and HBA2 globin chains; restriction endonuclease analysis was performed to assess whether quantitative variations in Hb bands were related to an unusual number of a-globin genes. In the two buffalo subpopulations, allele frequencies of the alpha and beta globin systems were calculated, and F statistics (FIS, FIT and FST) were estimated as parameters of genetic diversity. The results suggest that: i) as shown by RFLP analysis, only a couple of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Phenotype; RFLP; Globin genes; Haplotype; Gene frequencies.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000200007
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Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta Genet. Mol. Biol.
Gutiérrez,Sandra; Torres,Diana; Briceño,Ignacio; Gómez,Ana Maria; Baquero,Eliana.
In this study, we analyzed the phenotype, clinical characteristics and presence of mutations in the enamelin gene ENAM in five Colombian families with autosomal dominant amelogenesis imperfecta (ADAI). 22 individuals (15 affected and seven unaffected) belonging to five Colombian families with ADAI and eight individuals (three affected and five unaffected) belonging to three Colombian families with autosomal recessive amelogenesis imperfecta (ARAI) that served as controls for molecular alterations and inheritance patterns were studied. Clinical, radiographic and genetic evaluations were done in all individuals. Eight exons and three intron-exon boundaries were sequenced for mutation analysis. Two of the five families with ADAI had the hypoplasic phenotype,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Amelogenesis imperfecta; ENAM gene; Hypocalcified; Hypoplasic; Phenotype.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400003
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Coat survey and Quarter reproductive age used in Vaquejada in Northeast micro-regions Sci. Agrar.Paran. / SAP
Bastos, Marisa Silva; Rezende, Marcos Paulo Gonçalves; Souza, Julio Cesar; Leite, Maybe Carneiro Paula; Figueiredo, Gabriel Chaves.
Aimed to evaluate the coat and Quarter reproductive age used in equine production used in Vaquejada in micro regions of the Northeast. They used information from 264 horses, taken from the database of the Association of Quarter Horse Breeders (ABQM). Were collected individual information: date of birth, sex and animal fur, number of copies of disputed official Vaquejada, better and worse placed, cumulative score in ABQM, coats and dates of parents' birth (31), coats and birth dates mothers (257). There was a higher frequency (P<0.05) of births between the months of September and October. There was no age-specific greater use of stallions or matrix playback (P>0.05). There was no correlation (P>0.05) between the number of children and the stallion...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Equus caballus; Equestrian sport; Phenotype; Longevity; Reproduction..
Ano: 2017 URL: http://e-revista.unioeste.br/index.php/scientiaagraria/article/view/13675
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Color polymorphism and allele frequency in a Brazilian population of the sunflower caterpillar Chlosyne lacinia saundersi (Doubleday) (Lepidoptera: Nymphalidae) Neotropical Entomology
Lopes-da-Silva,Marcelo; Casagrande,Mirna M..
The aim of this work was at calculating allele frequency color polymorphism in a population of sunflower caterpillar, Chlosyne lacinia saundersi (Doubleday) from Londrina, Paraná State, Brazil. Allele frequency in insect populations can be used as genetic marker to compare populations from different geographical and host origins. There are three phenotypes conditioned by two loci interacting epistatically. The phenotypes are: rufa (oranged colored larvae), bicolor (black larvae with dorsal orange stripes) and nigra, larvae with the body entirely black, sometimes with dorsal yellow dots, best seen in the fourth and fifth instars. Samples were taken independently in an attempt to obtain all combinations of crossing among genotypes. The genetic mechanism of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Epistasis; Population genetics; Ecological genetics; Phenotype.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1519-566X2003000100025
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Cross-disciplinary approaches for measuring parasitic helminth viability and phenotype Anais da ABC (AABC)
Peak,Emily; Hoffmann,Karl F.
Parasitic worms (helminths) within the Phyla Nematoda and Platyhelminthes are responsible for some of the most debilitating and chronic infectious diseases of human and animal populations across the globe. As no subunit vaccine for any parasitic helminth is close to being developed, the frontline strategy for intervention is administration of therapeutic, anthelmintic drugs. Worryingly, and unsurprising due to co-evolutionary mechanisms, many of these worms are developing resistance to the limited compound classes currently being used. This unfortunate reality has led to a renaissance in next generation anthelmintic discovery within both academic and industrial sectors. However, a major bottleneck in this process is the lack of quantitative methods for...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Helminth; Schistosome; Nematode; Viability; Phenotype.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652011000200024
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Crossing phenotype heritability and candidate gene expression in grafted black-lipped pearl oyster Pinctada margaritifera, an animal chimera ArchiMer
Blay, Carole; Planes, Serge; Ky, Chin-long.
Grafting mantle tissue of a donor pearl oyster into the gonad of a recipient oyster results in the formation of a chimera, the pearl sac. The phenotypic variations of this chimera are hypothesized to be the result of interactions between the donor and recipient genomes. In this study, the heritability of phenotypic variation and its association with gene expression were investigated for the first time during P. margaritifera pearl production. Genetic variance was evaluated at different levels, 1) before the graft operation (expression in graft tissue), 2) after grafting (pearl sac tissue expression in chimera) and 3) on the product of the graft (pearl phenotype traits) based on controlled bi-parental crosses and the F1 generation. Donor related genetic...
Tipo: Text Palavras-chave: Gene expression; Heritability; Pearl oyster; Phenotype; Pinctada margaritifera.
Ano: 2018 URL: https://archimer.ifremer.fr/doc/00433/54505/55876.pdf
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Diversité génétique chez la tomate National Institute of Agronomic Research
Pawlowski, Thomasz.
Tipo: Other Palavras-chave: Tomato; Genetic diversity; Phenotype; Molecular polymorphism; Tomate; Diversité génétique; Lycopersicon esculentum; Variabilité phénotypique; Polymorphisme moléculaire.
Ano: 2004 URL: http://hdl.handle.net/2174/327
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Genetic control of seed dormancy and pre-harvest sprouting in wheat Scientia Agricola
Andreoli,Claudinei; Bassoi,Manoel Carlos; Brunetta,Dionisio.
Pre-harvest sprouting (PHS) damage leads to occasional massive losses in all wheat producing areas, causing downgrading of grain quality, that severely limits end-use applications and results in substantial financial losses to farmers and food processors. Red grain color is a traditional marker for resistance to sprouting in wheat breeding programs, however red-grained genotype alone does not always guarantee effective resistance. The objective of this work was to find genes for resistance to PHS and investigate its inheritance in Brazilian wheat cultivars. Genetic variation for dormancy was investigated in the parents, F1 and 300 F2 lines derived from the cross Frontana × OR1 and its reciprocal. The germination/dormancy sprouted grains was evaluated on...
Tipo: Info:eu-repo/semantics/report Palavras-chave: Triticum aestivum; QTL; Alpha-amylase; Digenic model; Phenotype.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-90162006000600009
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Genetic diversity among Brazilian okra landraces detected by morphoagronomic and molecular descriptors Agronomy
Massucato, Luana Rainieri; Nakamura, Karina Kazue; Ruas, Paulo Mauricio; Zefa, Douglas Mariani; Silva, Derly José Henrique da; Gonçalves, Leandro Simões Azeredo.
The conservation of okra landraces [Abelmoschus esculentus (L.) Moench] in gene banks is essential for the success of their use in breeding programmes. This study evaluated the genetic diversity among okra landraces in Brazil based on morphoagronomic descriptors and AFLP markers. We studied 30 accessions of the vegetable gene bank of the Universidade Federal de Viçosa. To this end, 17 morphoagronomic descriptors and five combinations of AFLP primers were used. Genetic parameters were estimated for the quantitative traits and the accessions were grouped by Ward’s method, using the Gower’s and Jaccard’s distance measures, respectively, for the morphoagronomic and molecular data. Polymorphisms were observed for all qualitative traits, while the quantitative...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Genetic variability; Molecular markers; Phenotype; Bayesian analysis.; Recursos Genéticos.
Ano: 2019 URL: http://periodicos.uem.br/ojs/index.php/ActaSciAgron/article/view/43426
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Genetic improvement of beef cattle through opportunities in genomics R. Bras. Zootec.
Miller,Stephen.
Genomics will improve the efficiency of beef cattle genetic improvement programs through the incorporation of genomic predictions into traditional genetic evaluations. The global dairy cattle breeding industry has been changed considerably in the last year through the implementation of genomic selection. Now proven to work in dairy cattle breeding, the challenge remains for the beef industry to successfully implement this technology. The primary challenge in beef cattle is the required resource population that relates genomic profile to phenotypic performance, which is quite large and its establishment will require collaboration or a significant investment by any one enterprise. Another challenge in beef cattle is the requirement for genomic predictions to...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Breeding strategies; DNA; Genomic selection; Phenotype; Recording; Single nucleotide polymorphisms.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-35982010001300027
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Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele Genet. Mol. Biol.
Polizzi,Angela; Tesse,Riccardina; Santostasi,Teresa; Diana,Anna; Manca,Antonio; Logrillo,Vito Paolo; Cazzato,Maria Domenica; Pantaleo,Maria Giuseppa; Armenio,Lucio.
Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR gene, and one different mutation per patient inherited in trans in a wide population of 289 Caucasian CF subjects from South Italy. The genotype-phenotype relationship in patients bearing this complex allele was investigated. The two associated mutations were related to classical severe CF phenotypes.
Tipo: Info:eu-repo/semantics/other Palavras-chave: CFTR; Complex allele; Cystic fibrosis; Phenotype.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300008
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Inter and intra-specific transcriptional and phenotypic responses of Pseudo-nitzschia under different nutrient conditions ArchiMer
Lema, Anais Kimberley; Metegnier, Gabriel; Quéré, Julien; Latimier, Marie; Youenou, Agnes; Lambert, Christophe; Fauchot, Juliette; Le Gac, Mickael.
Untangling the functional basis of divergence between closely related species is a step towards understanding species dynamics within communities at both the evolutionary and ecological scales. We investigated cellular (i.e: growth, domoic acid production, nutrient consumption) and molecular (transcriptomic analyses) responses to varying nutrient concentrations across several strains belonging to three species of the toxic diatom genus Pseudo-nitzschia. Three main results were obtained. First, strains from the same species displayed similar transcriptomic, but not necessarily cellular, responses to the experimental conditions. It showed the importance of considering intra-specific diversity to investigate functional divergence between species. Second, a...
Tipo: Text Palavras-chave: Phenotype; Transcriptomics; Pseudo-nitzschia; Divergence; Nutrients.
Ano: 2019 URL: https://archimer.ifremer.fr/doc/00482/59392/62157.pdf
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Manual de uso do Sistema BDGF. Infoteca-e
VIEIRA, F. D..
Neste documento apresentamos um manual de uso das principais funcionalidades do sistema BDGF, seja para usuários atuais ou para pessoas interessadas em como trabalhar com esse software web para armazenamento e recuperação de dados fenotípicos e genotípicos de animais.
Tipo: Documentos (INFOTECA-E) Palavras-chave: Banco de Dados de Genótipos e Fenótipos; Sistema BDGF; Genótipo; Fenótipo; Melhoramento Animal; Genotype; Phenotype; Computer software.
Ano: 2019 URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1115483
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Morphological variation of Cosmos bipinnatus (Asteraceae) and its relation to abiotic variables in central Mexico RChHN
Paniagua-Ibánez,Maribel; López-Caamal,Alfredo; Mussali-Galante,Patricia; Sánchez-Salinas,Enrique; Ortiz-Hernández,Ma. Laura; Ramírez-Rodríguez,Rolando; Tovar-Sánchez,Efraín.
BACKGROUND: Morphological variability can lead to serious taxonomic problems in species with wide distribution ranges. Although morphological variability is partly due to ontogenetic programming, abiotic variables can also exert a significant effect on micro- and macromorphological characters. in this paper, we studied the morphological variability (43 characters) of Cosmos bipinnatus associated to different vegetation types in central Mexico. We searched for significant correlations between the overall morphology of C. bipinnatus and abiotic variables such as altitude and soil parameters (pH, organic matter content, NH4,NO3,PO4, total N and total P content). We also analyzed the Simplified Relative Distance Plasticity index (RDPIs). RESULTS: Locality had...
Tipo: Journal article Palavras-chave: Macromorphology; Micromorphology; Phenotype; Phenotypic plasticity reproductive character; Vegetative character.
Ano: 2015 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-078X2015000100014
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Odometria visual com SVO e sua aplicação em reconstrução tridimensional. Infoteca-e
SANTOS, T. T..
O presente trabalho analisa um método recentemente proposto na literatura para odometria visual em tempo real, isto é, a localização espacial em tempo real obtida somente a partir de imagens geradas por uma câmera acoplada ao equipamento, e sua aplicabilidade em problemas de reconstrução tridimensional de objetos.
Tipo: Documentos (INFOTECA-E) Palavras-chave: Odometria visual; Reconstrução 3D; Reconstrução tridimensional; Fenotipagem de plantas; Navegação robótica; Semi-direct Visual Odometry; Phenotype.
Ano: 2014 URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1011987
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Overview of the genes of watermelon National Institute of Agronomic Research
Wehner, T.C..
Watermelon (Citrullus lanatus (Thunb.) Matsum. & Nakai) has 59 morphological and resistance gene mutants. The genes control traits that can be grouped into seed and seedling traits, vine traits, flower traits, fruit traits, and resistance traits. This article includes a review of traits that result from these genes and their interaction, as well as future research needed.
Tipo: Conference Paper Palavras-chave: Citrullus lanatus; Resistance traits; Morphological traits; Character; Molecular markers; Disease resistance; Seedling genes; Vine genes; Flower genes; Fruit genes; Phenotype; Homozygous genotypes; Inheritance; Linkage.
Ano: 2008 URL: http://hdl.handle.net/2174/195
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Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia BJMBR
Torres,N.; Mello,M.P.; Germano,C.M.R.; Elias,L.L.K.; Moreira,A.C.; Castro,M..
Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). We determined by allele-specific PCR the frequency of microconversion in the CYP21A2 gene in 50 Brazilian patients with the classical (salt wasting: SW and simple virilizing: SV) forms and nonclassical (NC) form of CAH-21OH and correlated genotype with phenotype. Genotypes were classified into three mutation groups (A, B, and C) based on the amount of enzymatic activity in in vitro studies using adrenal cells. In 94 unrelated alleles, we diagnosed 76% of the affected alleles after screening for 7 microconversions. The most frequent point mutations observed in this series were I172N (19%), V281L (18%), and IVS2,A/C>G,-12 (15%). In the SW form, the most...
Tipo: Info:eu-repo/semantics/article Palavras-chave: 21-Hydroxylase; Mutation; Microconversion; Genotype; Phenotype; Congenital adrenal hyperplasia.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000006
Registros recuperados: 29
Primeira ... 12 ... Última
 

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