Genetic Screening
Mostrando 13-24 de 835 artigos, teses e dissertações.
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13. Araucaria angustifolia chloroplast genome sequence and its relation to other Araucariaceae
Abstract Araucaria angustifolia is endemic to southern Brazil. Known as Brazilian pine, A. angustifolia is the only native conifer species with economic and social relevance in this country. Due to massive exploitation, it has suffered a significant population decline and currently is classified as critically endangered. This encouraged the scientific commun
Genet. Mol. Biol.. Publicado em: 14/11/2019
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14. Evaluating early selection in perennial tropical forages
Abstract Perennial grass hybrids of Urochloa are evaluated for at least two years during the screening stage trials (SS) and advanced trials (AD) in breeding programs, an expensive and time-consuming process. In this study, we aimed to evaluate the potential for early selection of cultivars in this breeding scheme. We used multiple measurements of agronomic
Crop Breed. Appl. Biotechnol.. Publicado em: 31/10/2019
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15. Osteogenesis imperfecta in Brazilian patients
Abstract Osteogenesis Imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and fracture. Mutations in 20 distinct genes can cause OI, and therefore, the genetic diagnosis of OI is frequently difficult to obtain because of the great number of genes that can be related with this disease. Studies that report the most frequently mu
Genet. Mol. Biol.. Publicado em: 15/08/2019
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16. Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance
ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize
Arch. Endocrinol. Metab.. Publicado em: 29/07/2019
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17. High cellulolytic activities in filamentous fungi isolated from an extreme oligotrophic subterranean environment (Catão cave) in Brazil
Abstract Abstract: Isolation and screening of new fungal strains from extreme and understudied environments, such as caves, is a promising approach to find higher yields enzyme producers. Cellulolytic fungal strains isolated from a Brazilian cave were evaluated for their enzymatic production after submerged (SmF) and solid-state fermentation (SSF). After SmF
An. Acad. Bras. Ciênc.. Publicado em: 29/07/2019
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18. Detection of virulence genes in Salmonella Heidelberg isolated from chicken carcasses
ABSTRACT During the last years, Brazilian government control programs have detected an increase of Salmonella Heidelberg in poultry slaughterhouses a condition that poses a threat to human health However, the reasons remain unclear. Differences in genetic virulence profiles may be a possible justification. In addition, effective control of Salmonella is rela
Rev. Inst. Med. trop. S. Paulo. Publicado em: 22/07/2019
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19. High prevalence of CTX-M-1 group in ESBL-producing enterobacteriaceae infection in intensive care units in southern Chile
ABSTRACT Enterobacteria-producing extended-spectrum β-lactamases (ESBL) play an important role in healthcare infections, increasing hospitalization time, morbidity and mortality rates. Among several ESBLs that emerge from these pathogens, CTX-M-type enzymes had the most successful global spread in different epidemiological settings. Latin America presents h
Braz J Infect Dis. Publicado em: 18/07/2019
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20. Search for sources of resistance to Meloidogyne enterolobii in commercial and wild tomatoes
RESUMO Meloidogyne enterolobii (=M. mayaguensis) é um patógeno de plantas capaz de induzir galhas e reduzir produtividade de uma vasta gama de espécies hospedeiras. Este patógeno tem sido também reportado como ameaça global para a cultura do tomateiro (Solanum lycopersicum), principalmente, por causa da sua habilidade de suplantar a resistência a algu
Hortic. Bras.. Publicado em: 18/07/2019
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21. Megacities, migration and an evolutionary approach to bipolar disorder: a study of Sardinian immigrants in Latin America
Objective: To determine whether people with a Sardinian genetic background who live in the megacities of South America have a higher frequency of hypomania than residents of Sardinia. Methods: A community survey of Sardinian immigrants was carried out in four Brazilian metropoles (n=218) and Buenos Aires (n=306). The results were compared with those of a s
Braz. J. Psychiatry. Publicado em: 01/07/2019
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22. A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING
RESUMO Objetivo: Descrever o caso de um paciente com hipotireoidismo congênito central (HCC) por conta de uma mutação recorrente no gene TSHB, bem como realizar um estudo genético de sua família. Descrição do caso: Relato de caso de um menino de 5 meses de idade com diagnóstico tardio de HCC isolado, em quem a análise molecular foi realizada 12
Rev. paul. pediatr.. Publicado em: 03/06/2019
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23. Evaluation of the Genetic Screening Processor for the Performance of Newborn Screening Tests
Abstract The collection of dried blood spots (DBSs) on filter paper has been a powerful tool in newborn screening (NBS) programs and in other fields. However, filter paper has been associated with some level of imprecision due to the filter paper matrix effect. In order to minimize measurement variations, these interferences should be evaluated by NBS assays
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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24. Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital
Abstract Newborn screening for the detection of inborn errors of metabolism (IEM), endocrinopathies, hemoglobinopathies, and other disorders is a public health initiative aimed at identifying specific diseases in a timely manner. Mexico initiated newborn screening in 1973, but the national incidence of this group of diseases is unknown or uncertain due to th
J. inborn errors metab. screen.. Publicado em: 30/05/2019