993 resultados para Folard, Jean Charles de, 1669-1752.


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Malone , C., 1990. American Journal of Archaeology 1993. 97(179-80).

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Schizophrenia is a common disorder with high heritability and a 10-fold increase in risk to siblings of probands. Replication has been inconsistent for reports of significant genetic linkage. To assess evidence for linkage across studies, rank-based genome scan meta-analysis (GSMA) was applied to data from 20 schizophrenia genome scans. Each marker for each scan was assigned to 1 of 120 30-cM bins, with the bins ranked by linkage scores (1 = most significant) and the ranks averaged across studies (R(avg)) and then weighted for sample size (N(sqrt)[affected casess]). A permutation test was used to compute the probability of observing, by chance, each bin's average rank (P(AvgRnk)) or of observing it for a bin with the same place (first, second, etc.) in the order of average ranks in each permutation (P(ord)). The GSMA produced significant genomewide evidence for linkage on chromosome 2q (PAvgRnk

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This chapter considers the radical re-imaginings of traditional Irish step dance in the recent works of Jean Butler and Colin Dunne. In Butler's Does She Take Sugar (2007) and Dunne's Out of Time (2008), the Irish step dancing body is separated from its historical roots in nationalism, from the exhibitionism required by the competitive form, and from the spectacularization of the commercialized theatrical format. In these works, which are both solo pieces performed by the choreographers themselves, the traditional form undergoes a critical interrogation in which the dancers attempt to depart from the determinacy of the traditional technique, while acknowledging its formation of their corporealities; the Irish step dance technique becomes a springboard for creative experimentation. In order to consider the importance of the creative potential revealed by these works, this chapter will contextualize them within the dance background from which they emerged, outlining the history of competitive step dancing in Ireland, the "modernization" of traditional Irish dance with the emergence of Riverdance (1994), and the experiments of Ireland's national folk theatre, Siamsa Tíre.

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This essay discusses Jean-Luc Godard’s artistic response to the Bosnian War (1992-95), and its representations in the Western mass media. For Godard, the reluctance of Europe’s advanced liberal democracies to intervene meaningfully in Bosnia – their insistence that 'humanitarianism' rather than protective intervention was the order of the day – was tantamount to supporting Serbian fascism, and – a fortiori – regressing to a policy of appeasement reminiscent of the days of the Munich Agreement. Although Godard's stance set him against some of his former compatriots on the left, speculating on his ideological motivations is beside the point. Rather, it is is in his filmmaking, in his vision of cinema, and how it relates to other histories of the image, that Godard’s sensibility can be most keenly felt and understood. As the essay points out, even his recent contribution to Jean-Michel Frodon's compilation film, Bridges of Sarajevo/Les ponts de Sarajevo (2014, 114 mn.), persists in posing questions about how the past continues to shape the present, and how Sarajevo and its contemporary history still delineates the identity of Europe. 

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Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated 1/42,000, 1/43,700 and 1/49,500 SNPs explained 1/421%, 1/424% and 1/429% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/I 2-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.

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Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.

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Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.

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Rapid and affordable tumor molecular profiling has led to an explosion of clinical and genomic data poised to enhance the diagnosis, prognostication and treatment of cancer. A critical point has now been reached at which the analysis and storage of annotated clinical and genomic information in unconnected silos will stall the advancement of precision cancer care. Information systems must be harmonized to overcome the multiple technical and logistical barriers to data sharing. Against this backdrop, the Global Alliance for Genomic Health (GA4GH) was established in 2013 to create a common framework that enables responsible, voluntary and secure sharing of clinical and genomic data. This Perspective from the GA4GH Clinical Working Group Cancer Task Team highlights the data-aggregation challenges faced by the field, suggests potential collaborative solutions and describes how GA4GH can catalyze a harmonized data-sharing culture.

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A presente tese tem como objeto de estudo os castrati em Portugal e no Brasil, visando principalmente às atividades musicais realizadas nos teatros da corte portuguesa entre 1752 e 1822. A partir de documentação histórica inédita, como livros de despesa do governo, os relatos fornecidos por viajantes estrangeiros da época, libretos, partituras originais e correspôndencias, a tese aborda o percurso histórico dos castrati italianos ampliando o entendimento sobre as práticas musicais que esses cantores protagonizaram tanto em Lisboa como no Rio de Janeiro.