Dissertations / Theses on the topic 'Digenism'
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Ogloblinsky, Marie-Sophie. "Statistical strategies leveraging population data to help with the diagnosis of rare diseases." Electronic Thesis or Diss., Brest, 2024. http://www.theses.fr/2024BRES0039.
Full textHigh genetic heterogeneity and complex modes of inheritance in rare diseases pose the challenge of identifying an n-of-one sequencing data and standard analysis methods. To tackle this issue, the PSAP method uses gene-specific null distributions of CADD pathogenicity scores to assess the probability of observing a given genotype in a healthy population. The goal of this work was to address rare disease lack of diagnosis through statistical strategies. We propose PSAP-genomic-regions an extension of the PSAP method to the non-coding genome, using as testing units predefined regions reflecting functional constraint at the scale of the whole genome.We implemented PSAP-genomic-regions and the initial PSAP-genes in Easy-PSAP a user-friendly and versatile Snakemake workflow, accessible to both researchers and clinicians. When applied to families affected by male infertility, Easy-PSAP allowed the prioritization of relevant candidate variants in known and novel genes. We then focused on digenism, the most simple mode of complex inheritance, which implicates the simultaneous alteration of two genes to develop a disease. We reviewed and benchmarked current methods in the literature to detect digenism and put forward new strategies to improve the diagnostic of this complex mode of inheritance
Moosburger, Théo de Borba. "Tradução comentada dos versos 1-609 do épico bizantino Vasileios Digenis Akritis." Florianópolis, SC, 2008. http://repositorio.ufsc.br/xmlui/handle/123456789/91651.
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A presente dissertação de mestrado consiste numa tradução comentada da primeira parte do épico grego medieval Digenis Akritis na versão de Escorial (versos 1-609), texto anônimo. Parte de um estudo da obra e seu contexto histórico e literário. Com base em formulações teóricas acerca da tradução literária, fundamentadas principalmente nas teorias de Antoine Berman e Lawrence Venuti, ela propõe uma tradução que possa simultaneamente apresentar a pouco conhecida literatura grega medieval e oferecer uma nova imagem da cultura grega ao público-leitor brasileiro. O texto traduzido constitui capítulo à parte e o original grego é fornecido em apêndice. This master thesis consists of a commented translation of the first part (vv. 1-609) of the anonymous Medieval Greek epic Digenis Akritis, in the Escorial version. First an analysis of the work and its literary and historical context is made. Based upon theoretical formulations concerning literary translation, which is mainly grounded on Antoine Berman's and Lawrence Venuti's theories, it proposes a translation that can both present the little known medieval Greek literature and offer a new image of the Greek culture to Brazilian readers. The translated text constitutes a separate chapter within the work, and the Greek original is given in the appendix.
Grguric, Benjamin Alxander. "Polymorphism and exsolution in the bornite-digenite solid solution series." Thesis, University of Cambridge, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.625036.
Full textGazzo, Andrea. "Beyond monogenic diseases: a first collection and analysis of digenic diseases." Doctoral thesis, Universite Libre de Bruxelles, 2018. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/272617.
Full textDoctorat en Sciences
info:eu-repo/semantics/nonPublished
Trusso, Maria Allegra. "THE GENETICS OF BIPOLAR DISORDER AND THE ROLE OF HETEROZYGOSITY FOR NEURONAL CEROID LIPOFUSCINOSIS." Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1214195.
Full textLivaniou, Krystallia. "Le Divin et l'Humain dans les chansons populaires grecques : évolution et mythes." Thesis, Paris 4, 2012. http://www.theses.fr/2012PA040003.
Full textGreek folk songs are infused with a profound religiosity that appears both as a framework and as a means of action. The folk poet has a multidimensional relationship with the God of the Bible and of the Old Testament and makes saints and angels active and recurrent personalities in his texts; they evolve in parallel with the heroes, and their destinies intertwine. Charos is a mythical figure that plays a fundamental role throughout the songs. A mythologically and symbolically sophisticated personality, Charos is the pillar of the lament songs. His ambiguous relationship with the divine determines his relationship with man, and makes him a separate being. Both incarnation of evil and agent of death, his rich historical journey reveals his many faces, as well as his links with some heroic and ambiguous figures such as Digenis or Tsamados. Nature and the animals hold a significant role, characterised by a profound sacredness, and they accompany man in all aspects of his personal and social life. Their ability to transform and their role as announcers in the ballads, place the animals on the front of the stage and grant them a major role in the unfolding of the action. The poet attaches particular importance to the social aspect of the sacred by exploring the notion of divine betrayal but also that of obedience of man to his god. Monastic life and the clergy, as well as religious diversity, become objects of social criticism, and a source of humour. Folk songs preserve an important number of myths by adapting them, that have a literary presence in the Hellenic territory: the myths of Tantalus, Calypso and Adonis belong to them. The ancient heritage of the public expression of grief, of the redemption of the dead and of the hero's tomb, forms the basis of folk philosophy and makes death a true crossroads of cultures
Jereza, Noel Abique. "Investigations on potential digenic HAMP (hepcidin) and HFE haemochromatosis gene mutations in the development of iron overload in Irish patients with dilated cardiomyopathy." Thesis, University of the West of England, Bristol, 2016. http://eprints.uwe.ac.uk/25518/.
Full textJAVANSHIR, ARASH. "Les trematodes digenes parasites de la coque cerastoderma edule (mollusque bivalve) dans le bassin d'arcachon : effets sur la dynamique des populations et la physiologie respiratoire de l'hote." Paris 6, 1999. http://www.theses.fr/1999PA066258.
Full textFamin, Maria Victoria. "Épistémologie d’une proposition théorique sur la littérature. Édouard Glissant à l’épreuve des auteurs francophones et hispanophones des Amériques : Alejo Carpentier, Patrick Chamoiseau et Augusto Roa Bastos." Thesis, Paris 4, 2013. http://www.theses.fr/2013PA040232.
Full textAt a time when a slackening in the theoretical literary production could be observed in France, Edouard Glissant’s Poetic of Relation can be seen as an innovative proposal that renews the conception of literature. It is the result of a thinking which implies a fundamental epistemological standpoint, since it is at the origin of a new type of discourse in the domain of literary theory. We shall call it the literary "theoretico-poetical" discourse, as it mirrors the importance taken by poetry in the author's work as a privileged means of reflexion on the literary. Though Glissant wants to avoid any system of thought, his theoretico-poetical discourse is organised to describe and explain literary phenomenon. This thesis brings up to date the interpretations and use of Glissantian concepts commonly accepted today and apply them to a corpus of authors from the Americas. The study of "Écue-Yamba-O" by Alejo Carpentier, the comparative analysis of "Hijo de hombre" by Augusto Roa Bastos and "Texaco" by Patrick Chamoiseau as well as a reading of "Sartorius. Le roman des Batoutos" by Edouard Glissant identifies more closely the processes confirming the consistency and the productivity of the tools that the Poetic of Relation really brings to literary studies
Balciuniene, Jorune. "Genetic studies of two inherited human phenotypes : Hearing loss and monoamine oxidase activity." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2001. http://publications.uu.se/theses/91-554-4917-4/.
Full textKerner, Gaspard. "Recherche de mutations pathogéniques par analyses d'exomes de larges échantillons de patients : application à la tuberculose." Thesis, Université de Paris (2019-....), 2020. http://www.theses.fr/2020UNIP7069.
Full textThe thesis aimed at finding new genetic etiologies of tuberculosis disease using whole exome sequencing data of tuberculosis patients as well as MSMD patients. Since the beginning of the XXth century researchers have tried to understand why infected individuals would (~10%) in some cases develop diseases while others (~90%) would remain asymptomatic. We herein describe the first genetic etiology of MSMD in the IFNG gene, the core gene controlling host’s immune systeme against mycobacterial infections. We also describe the first common monogenic etiology of tuberculosis in the TYK2 gene, bridging the gap between monogenic variants with strong effect and more common variants obtained with GWAS. Looking back at the history of TB, it would be estimated that about 10 million people died due to this one TYK2 mutation. We finally expanded the study of the genetics of tuberculosis by developing a new methodology to study digenic effects on disease susceptibility. It is in particular appropriate to the study of so far assumed monogenic diseases that are not fully explained by a monogenic lesion. Robustness and power of this approach to find interaction between independent genomic regions were shown in both extensive simulated data and real exome data (craniosynostosis)
Debibakas, Audrey. "Poétiques d’archipélité : désancrages géographiques et littéraires." Thesis, Sorbonne Paris Cité, 2015. http://www.theses.fr/2015USPCA105.
Full textThe body of texts examined in this study deals with disanchored, decentred, shifting literary works. Far from being separate and independent units, the novels, though singular, are constantly overlapping in terms of narrative themes. Therefore we can identify a fictional landscape that is both specific and common. The novels take pride of place from within a common history and focus on three islands, thereby creating a real scriptural geography. Three novels, three Caribbean islands and three authors are under consideration. The geographical archipelity and the literary one appear to be the result of a malleable geography and/or of a boundless creativity. The designated space and the works are in perpetual construction. In this study, both the geographical and literary archipelagos are conceptualized as a way to identify and bring together small portions of history and memories. The slave trade is a truly “unspeakable language” which does not provide any narrative. Against the backdrop of an absence of epic tales and myths, the texts that are considered for study have been highlighted. They are seeking to reproduce the fragmented and incomplete nature of life, thereby emphasizing the importance of nothingness, absence, the unspeakable and the ineffable. The initial “non-world” evolves into an emerging new digenic narrative space. Hence a geographical dematerialization within the narrative. The archipelago itself reproduces the unspeakable and invisible memories that are related to forgotten stories. Thus, the novels are not only describing geographical and historical nothingness, they are also transforming it into an asset for literature and poetry. What was once considered a fundamental flaw has become an asset for literary and creative thought
Soleymani, Majd Nina. "Lionnes et colombes : les personnages féminins dans le Cycle de Guillaume d’Orange, la Digénide, et le Châhnâmeh de Ferdowsi." Thesis, Université Grenoble Alpes (ComUE), 2019. http://www.theses.fr/2019GREAL024.
Full textThis work is meant to explore the literary effects of the massive presence of female characters in the medieval epic, despite the paradox it represents, given that these poems deal mainly with war and seem to be primarily concerned with masculinity. The research focuses on three major epics from France, Byzantium and Persia, composed between the 11th and the 13th century. The study of female characters from a comparative point of view emphasizes their impact on the narrative, contrasts their submissiveness with their independance from their male counterparts, and sheds light upon the misogynistic stereotypes as well as the positive appreciations among their literary representations. Since the epic genre has been recently redefined as the ideal locus for the confronting of antithetic social values through the use of narratological tools, rather than conceptual, we would like to show that this can also apply to gender norms. Because their agency becomes problematic as soon as it challenges that of men, women in epics bring on a constant inquiry of those norms. Be it indirect or straightforward, this latent tendency gives rise to a specifically feminine transgression that, when leading to heroism, allows to re-read those works as going against essentialist prejudices
Zhao, Jianyi. "QTLs for oil content and their relationships to other agronomic traits in an European x Chinese oilseed rape population." Doctoral thesis, [S.l.] : [s.n.], 2002. http://deposit.ddb.de/cgi-bin/dokserv?idn=967138183.
Full textNelson, Martha. "Characterization of the chloroplast genome of selected dinoflagellates : mini- and digenic circles in adenoides eludens." Thesis, 2003. http://hdl.handle.net/2429/14149.
Full textKapsalykova, K. R., and К. Р. Капсалыкова. "Образы полководцев в византийской интеллектуальной традиции X–XI вв. : магистерская диссертация." Master's thesis, 2014. http://hdl.handle.net/10995/27975.
Full textДиссертация посвящена исследованию образов военачальников в византийской исторической литературе. Победы императорской армии во второй половине X – начале XI в. нашли значительное отражение в византийской литературе. Созданные в исторических сочинениях этого времени образы полководцев являлись продолжением античной традиции. Автором исследованы основные литературные типы полководцев: римский идеал военачальника; святой воин, защитник христиан; воин, защитник своей семьи; воин-интеллектуал. В XII в. образ воина-интеллектуала получит широкое распространение, и станет близок к образам куртуазной рыцарской литературы. Помимо этого, в диссертации изучены сущность, значение и общественное восприятие триумфа, а также особенности византийской победной риторики.