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| Registros recuperados: 2.387 | |
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| Trivinho-Strixino,Susana; Messias,Maria Conceição. |
| The immature and adult stages of a new species of the genus Oukuriella Epler, 1986 from the Southeast of Brazil are described. The larvae, reared in laboratory to obtain adults, were obtained from submerged wood collected in a reservoir situated in the Jataí Ecological Station (Luiz Antônio, SP). According to Messias et al. (2000) the genus is composed of three species group. The adults of this new species congregate morphological characteristics of the Oukuriella - second group, which is characterised by wings without markings, abdominal tergites with setal tufts and gonostylus broad, 1,5x longer than gonocoxite, but is distinguished by different thoracic and abdominal pigmentation. This is the first description of female for the Oukuriella second group.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Região neotropical; Brazil; Chironomidae; Chironomini; Oukuriella. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0328-03812005000200012 |
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| G. Couto,Erminda C; Da Silveira,Fábio Lang; A. Rocha,Gecely R.. |
| Brazil has one of the highest biodiversities in the world, both in the terrestrial and the marine environment. Thanks to its extensive coastal line, Brazilian marine flora and fauna are composed of species from many different marine bioregions. The ecosystems on the south-eastern and southern coasts have received considerable attention but, due to the great impact of human activities such as tourism, over-exploitation of marine resources, physical alteration, oil related activities and pollution among others, this environment is under great risk and its biodiversity is threatened. The most representative ecosystems of this region include sandy beaches, rocky shores, sea grass beds, soft bottom communities and mangrove forests. On the northern coast where... |
| Tipo: Journal article |
Palavras-chave: Brazil; Tropical; Marine biodiversity; Conservation. |
| Ano: 2003 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-65382003000200014 |
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| Giugliani,Roberto; Federhen,Andressa; Michelin-Tirelli,Kristiane; Riegel,Mariluce; Burin,Maira. |
| Abstract Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some of these conditions, diagnosis usually depends on specific enzyme assays, which are only available in a few laboratories around the world. A pioneer facility for the diagnosis of IEM and LSDs was established in the South of Brazil in 1982 and has served as a reference service since then. Over the past 34 years, samples from 72,797 patients were referred for investigation of IEM, and 3,211 were confirmed as having an LSD (4.41%, or 1 in 22), with 3,099 of these patients originating from Brazil. The rate of diagnosis has increased... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lysosomal storage diseases; Epidemiology; Reference center; Biochemical genetics; Brazil. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000100031 |
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| E. Castilla,Eduardo; Schuler-Faccini,Lavinia. |
| Here we propose a registration process for population genetic isolates, usually geographic clusters of genetic disorders, based on the systematic search of rumors, defined as any type of account regardless of its reliability. Systematically ascertained rumors are recorded, and validated through a progressive process of pre-established steps. This paper outlines the conceptual basis for this approach and presents the preliminary results from a rumor-based nationwide registry of genetically isolated populations, named CENISO (Censo Nacional de Isolados), operating in Brazil since 2009. During the first four years of its existence (2009-2013), a total of 191 Rumors were registered and validated, resulting in a prevalence rate of one per million inhabitants of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Rumors; Disease clustering; Genetic diseases; Population registers; Brazil. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200005 |
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| Penchaszadeh,Victor B.; Schuler-Faccini,Lavinia. |
| Over the past three decades, there has been an accelerated development of genetic technology, leading to its use in human genetic identification for many purposes. Additionally, it has been made explicit that identity is a fundamental human right. A number of historical circumstances have connected these developments. Personal identity is increasingly associated with the preservation and defense of human rights and is a tool to repair the violation of these rights, particularly the right to identity. In this article, we report the use of genetics to support the right to identity in two historical circumstances. First, we report the search, localization, DNA testing and genetic identification of 110 individuals who were appropriated as babies by the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Genetics and human rights; Suppression of identity; Leprosy; Argentina; Brazil. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200016 |
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| Coura,Renata dos Santos; Marques,Christiane de Fátima Silva; Koifman,Rosalina J.; Koifman,Sergio; Cabello,Pedro Hernan; Hatagima,Ana. |
| The enzymes encoded by the polymorphic genes CYP1A1 and CYP2E1 play an important role in the activation and inactivation of xenobiotics. These enzymes have been associated with xenobiotic-induced diseases, such as cancer, therapeutic failure and adverse effects of drugs. The aim of the present study was to determine the allelic and genotypic frequencies of these polymorphisms in a large, ethnically mixed Brazilian population sample from Rio de Janeiro. Polymorphisms CYP1A1 and CYP2E1 were determined in 870 unrelated individuals by PCR-RFLP analysis in peripheral blood DNA. The observed allelic frequencies were 0.90 for CYP1A1*1A and 0.95 for CYP2E1*1A, in the total sample. The allelic frequency of CYP1A1*2C in "pardos" (0.13) and Brazilian whites (0.11)... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cytochromes P450; CYP1A1; CYP2E1; Brazil. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100001 |
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| Camargo Neto,Eurico; Schulte,Jaqueline; Pereira,Jamile; Bravo,Heydy; Sampaio-Filho,Claudio; Giugliani,Roberto. |
| Abstract We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screening laboratory. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lysossomal storage diseases; Neonatal screening; Digital microfluidics; Brazil. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300414 |
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| Ananina,Galina; Peixoto,Alexandre A.; Bitner-Mathé,Blanche C.; Souza,Wilma N.; Silva,Luciano Basso da; Valente,Vera L.S.; Klaczko,Louis B.. |
| The most polymorphic chromosome for inversions in Drosophila mediopunctata is the chromosome II, where 17 inversions have been found, eight of which occurring in the distal region and nine in the proximal region. We present an analysis of the chromosome II inversion polymorphism with respect to seasonal, altitudinal and latitudinal variation. In D. mediopunctata from the Parque Nacional do Itatiaia (southeastern Brazil), the frequencies of three of the distal inversions (namely DA, DS, and DP) vary seasonally. These inversions also show altitudinal clines in their frequencies. This microgeographic pattern was not observed on a macrogeographic scale. D. mediopunctata from Porto Alegre are less polymorphic for inversions than other populations, the most... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cline; Microgeographic variation; Temperature; Tripunctata group; Brazil. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000100011 |
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| Carvalho,Mónica; Brito,Pedro; Lopes,Virgínia; Andrade,Lisa; Anjos,Mª João; Real,Francisco Corte; Gusmão,Leonor. |
| The present-day Brazilian population is a consequence of the admixture of various peoples of very different origins, namely, Amerindians, Europeans and Africans. The proportion of each genetic contribution is known to be very heterogeneous throughout the country. The aim of the present study was to compare the male lineages present in two distinct Brazilian populations, as well as to evaluate the African contribution to their male genetic substrate. Thus, two Brazilian population samples from Manaus (State of Amazon) and Ribeirão Preto (State of São Paulo) and three African samples from Guinea Bissau, Angola and Mozambique were typed for a set of nine Y chromosome specific STRs. The data were compared with those from African, Amerindian and European... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Chromosome Y; STRs; Lineages; Brazil; Africa. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300004 |
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| Coimbra,João C.; Carreño,Ana L.; Geraque,Eduardo A.; Eichler,Beatriz B.. |
| The ostracode assemblages from Cananéia-Iguape estuarine/lagoon system (southernmost State of São Paulo) are here discussed in detail for the first time. Thirty-four sites, approximately 1 km equidistant, were sampled along the system, including the Cananéia Sea, Pequeno Sea, Cubatão Sea, Ribeira de Iguape River and Itapitangui River. The ostracodes throughout this area have poor assemblages, with a total of 662 specimens of dead and living organisms. The majority of the ostracode fauna is composed of euryhaline species, as follows: Cyprideis multidentata Hartmann, 1955 (174 specimens), Minicythere heinii Ornellas, 1974 (54 specimens), Tanella gracilis Kingma, 1948 (96 specimens) and Whatleyella sanguinettiae Coimbra, Carreño & Ferron, 1994 (226... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Ostracoda; Geographical distribution; Ecology; Marginal environments; Brazil. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0073-47212007000300010 |
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| Torres,Felipe Rafael; Madi-Ravazzi,Lilian. |
| The composition and the seasonality of the natural populations of Drosophila species in relation to the climatic variables temperature and rainfall were analyzed from September 1998 through October 1999 by monthly collections, in two woodlands in the Northwest of the State of São Paulo, Brazil. The diversity dominance component curves were inclined, reflecting low diversity and high dominance of few species. Among the 25 species recorded, Drosophila sturtevanti Duda, 1927 was the most frequent and abundant. On the opposite to data in literature, D. paranaensis Barros, 1950 abundance and frequency were greater than those from D. mercatorum Patterson & Wheeler, 1942. A positive correlation between abundance and rainfall was observed for D. nebulosa... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Brazil; Abiotic factors; Seasonality; Drosophila; Biodiversity. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0073-47212006000400008 |
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| Registros recuperados: 2.387 | |
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