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1

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.

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La forte hétérogénéité génétique et les modes de transmission complexes des maladies rares posent le défi d'identifier le variant causal si un seul patient le porte, en utilisant des données de séquençage et des méthodes d'analyse standard. Pour aborder ce problème, la méthode PSAP utilise des distributions nulles par gène de scores de pathogénicité CADD pour évaluer la probabilité d'observer un génotype donné dans la population générale. L'objectif de ce travail était de répondre au manque de diagnostic des maladies rares grâce à des méthodes statistiques. Nous proposons PSAP-genomic-regions, une extension de la méthode PSAP au génome non codant, en utilisant comme unités de test des régions prédéfinies reflétant la contrainte fonctionnelle à l'échelle du génome entier. Nous avons implémenté PSAP-genomic regions et sa version initiale PSAP-genes dans Easy-PSAP, un workflow Snakemake intuitif et adaptable, accessible aussi bien aux chercheurs qu'aux cliniciens. Appliqué à des familles touchées par de l'infertilité masculine, Easy-PSAP a permis la priorisation de variants candidats pertinents dans des gènes connus et nouveaux. Nous nous sommes ensuite concentrés sur le digénisme, le mode le plus simple de transmission complexe, qui implique l'altération simultanée de deux gènes pour développer une maladie. Nous avons décrit et évalué les méthodes actuelles publiées dans la littérature pour détecter le digénisme et proposé de nouvelles stratégies pour améliorer le diagnostic de ce mode de transmission complexe
High 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
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2

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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Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Comunicação e Expresão. Programa de Pós-graduação em Estudos da Tradução
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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.
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3

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.

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4

Gazzo, 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.

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In the next generation sequencing era many bioinformatics tools have been developed for assisting scientists in their studies on the molecular basis of genetic diseases, often with the aim of identifying the pathogenic variants. As a consequence, in the last decades more than one hundred new disease-gene associations have been discovered. Nevertheless, the genetic basis of many genetic diseases yet remains undisclosed. It has been shown that many diseases considered as monogenic with an imperfect genotype-phenotype correlation or incomplete penetrance are, on the contrary, caused or modulated by more than one mutated gene, meaning that they are in fact oligogenic. Current bioinformatics methods used for identifying pathogenic variants are trained and fine-tuned for identifying a single variant responsible of a disease. This monogenic-oriented approach cannot be used to explore the impact of combinations of variants in different genes on the complexity and genetic heterogeneity of rare diseases. Digenic diseases are the simplest form of oligogenic disease and thus they can provide a conceptual bridge between monogenic and the poorly understood polygenic diseases.The ambition of this thesis is to collect and analyse digenic data, introducing this topic in the bioinformatics field where digenic diseases are still an unexplored branch. This can be divided in two steps: the first consists in the creation of a central repository containing detailed information on digenic diseases; the second is an analysis of their peculiarities, using machine learning methods for studying subclasses of digenic effects.In the first step we developed DIDA (DIgenic diseases DAtabase), a novel database that provides for the first time a curated collection of genes and associated variants involved in digenic diseases. Detailed information related to the digenic mechanism have been manually mined from the medical literature. All instances in DIDA were also assigned to two sub classes of digenic effects, annotated as true digenic (both genes are required for developing the disease) and composite classes (one gene is sufficient to produce the disease phenotype, the second one alters it or change significantly the age of onset).In the second step, we hypothesized that the digenic effect may be related to some biological properties characterizing digenic combinations. Using machine learning methods, we show that a set of variant, gene and higher-level features can differentiate between the true digenic and composite classes with high accuracy. Moreover, we show that a digenic effect decision profile, extracted from the predictive model, motivates why an instance is assigned to either of the two classes.Together, our results show that digenic disease data generates novel insights, providing a glimpse into the oligogenic realm.
Doctorat en Sciences
info:eu-repo/semantics/nonPublished
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5

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.

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Introduction. Bipolar Disorder (BD) is an heritable chronic mental disorder causing psychosocial impairment, affecting patients with depressive/manic episodes. The familial transmission of BD does not follow any of the simple Mendelian patterns of inheritance, demonstrating the involvement of multiple susceptibility genes. Materials and Method. Whole Exome Sequencing (WES) was performed in eight subjects of a large family counting twelve BD affected people. We selected variants in common between the affected subjects, once including and once excluding a “borderline” subject with moderate anxiety and traits of obsessive- compulsive disorder.  Results. Results were in favour of a Digenic model of transmission, with a heterozygous missense variant in CLN6 resulting in a “borderline” phenotype that if combined with a heterozygous missense variant in ZNF92 is responsible for the more severe BD phenotype. Both rare missense changes are predicted to disrupt the protein function. Conclusions. Loss of both alleles in CLN6 causes Neuronal Ceroid Lipofuscinosis, a severe progressive neurological disorder of childhood. Our results indicate that heterozygous CLN6 carriers, previously reported as healthy, may be susceptible to bipolar disorder late in life. Additional variants, such as that in ZNF92 reported here, may further worsen the phenotype in a setting of digenic disorder. Further investigation on a larger cohort should be performed in order to better characterize the contribution of each gene.
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6

Livaniou, Krystallia. "Le Divin et l'Humain dans les chansons populaires grecques : évolution et mythes". Thesis, Paris 4, 2012. http://www.theses.fr/2012PA040003.

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Les chansons populaires grecques sont imprégnées d’une profonde religiosité qui apparaît à la fois comme cadre et comme vecteur d’action. Le poète populaire entretient une relation multidimensionnelle avec le Dieu de la Bible et de l’Ancien Testament et fait des saints et des anges des personnages actifs et récurrents dans les textes ; ils évoluent parallèlement avec les héros et leurs destinées s’entrecroisent. Charos est une figure mythique qui joue un rôle fondamental dans l’ensemble des chansons. Personnage mythologiquement et symboliquement sophistiqué, Charos constitue le pilier des mirologues. Ses relations ambiguës avec la divinité déterminent celles qu’il entretient avec l’homme et fait de lui un être à part. A la fois incarnation du mal et agent de la mort, son riche parcours historique dévoile ses nombreuses facettes, ainsi que ses liens avec certaines figures héroïques ambigües telles que Digenis ou Tsamados. La nature et les animaux détiennent un rôle significatif, caractérisé d’une sacralité profonde, et ils accompagnent l’homme des chansons dans tous les aspects de sa vie personnelle et sociale. Leur capacité de métamorphose et leur rôle d’annonciateurs dans les ballades, placent les animaux sur le devant de la scène et leur accordent un rôle de première importance dans le déroulement de l’action. Le poète accorde une importance particulière à l’aspect social du sacré en explorant la notion de la trahison divine mais également celle de l’obéissance de l’homme à son dieu. La vie monacale et le clergé comme l’altérité religieuse, deviennent l’objet d’une critique d’ordre social et une source d’humour. Les chansons populaires véhiculent en les adaptant un nombre important de mythes qui ont une logue présence sur le territoire hellénique : le mythe de Tantale, de Calypso et d’Adonis en font partie. L’héritage antique de l’expression publique du deuil, du rachat du mort et du tombeau du héros vient former les bases de la philosophie populaire et fait de la mort un véritable croisement de cultures
Greek 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
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7

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/.

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Iron overload cardiomyopathy (IOC) has been recently described as a dilated cardiomyopathy, characterized by left ventricular (LV) remodelling with chamber dilatation and reduced LV ejection fraction (LVEF). However, primary haemochromatosis, a genetically determined condition leading to iron overload, is classically categorized as an infiltrative cause of cardiomyopathy. Moreover, secondary haemochromatosis may lead to severe diastolic LV dysfunction in the early stages of the disease, before LVEF is affected. In this study, we describe the forms, pathophysiology, and genotypic expressions of HFE and hepcidin (HAMP) gene mutations focusing on the possibility of digenic occurrence that could lead to potential development of iron overload cardiomyopathy among Irish patients and their direct family members. The prevalence of iron overload cardiomyopathy (IOC) in Irish population is increasing. The spectrum of symptoms of IOC varied. Early in the disease process, patients may be asymptomatic, whereas severely overloaded patients can have terminal heart failure complaints that are refractory to treatment. It has been shown that early recognition and intervention may alter outcomes. In this study the combination of cardiac biomarkers (troponin I and creatine kinase), iron studies (serum ferritin, serum hepcidin, and transferin saturation) level determinations and genotyping of the HFE (C282Y/H63D) and hepcidin HAMP (C70R) gene mutations were carried out and allele frequencies were correlated within the Irish population. The first finding of this study was a trend towards significant elevation of iron studies: serum ferritin level, percent transferin saturation and decreasing serum hepcidin observed in dilated cardiomyopathy patients and direct family members identified with HFE C282Y/H63D and HAMP C70R heterozygotes who were asymptomatic. This was not associated with age and suggests that there is a threshold level of iron studies above which symptoms occur. This discordance between the symptomatic and asymptomatic HFE C282Y/H63D and HAMP C70R heterozygous formed the basis of subsequent analyses. The second finding of this study was a trend towards significant elevation of the selected cardiac biochemical markers from the median level of serum troponin-I and creatine kinase observed in patients and direct family members with HFE C282Y/H63D and HAMP C70R heterozygous who were again asymptomatic. This was not associated with age and cardiac complaints or history and suggests that there is a threshold level of cardiac biochemical marker activities that triggers the condition and as predisposing factors to a potential development of iron overload cardiomyopathy. The genotypic expressions of HFE and HAMP were identified and showed that among the Irish patients diagnosed with dilated cardiomyopathy and their family members, a significant trend of digenic occurrence of both mutations. The heterozygous C282Y/H63D and C70R revealed in this study that it is a predisposing factors developed at certain age of life.
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8

JAVANSHIR, 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.

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Parmi les mecanismes susceptibles d'influer la dynamique des populations d'invertebres marins, le facteur parasitisme a ete peu pris en compte jusqu'a present. Dans ce travail, nous nous sommes interesses a l'effet des trematodes digenes sur la dynamique des populations et la physiologie respiratoire d'un mollusque bivalve, la coque cerastoderma edule, dans le bassin d'arcachon. Les populations de coques du bassin sont sujettes a une importante variabilite spatio-temporelle du recrutement et de leur structure demographique. En outre, les populations etudiees en cinq sites montrent une variabilite saisonniere de la prevalence et de l'intensite d'infestation par les trematodes. Ainsi, sur deux sites du banc d'arguin, des trematodes au stade metacercaire etaient presents pendant toute l'annee et en forte abondance, alors qu'ils etaient quasiment absents sur deux autres sites proches (pereire et cap-ferret). Aucune relation nette entre la mortalite des coques et l'infestation parasitaire n'a pu cependant etre demontree. Cinq especes de trematodes digenes infestant les coques du bassin d'arcachon ont ete identifiees : meiogymnophallus minutus, labratrema minimus et trois especes du genre himasthla. Chacune de ces dernieres s'installe preferentiellement dans une region particuliere du pied du bivalve. M. Minutus envahit la cavite sous la charniere de la coquille et l. Minimus infeste en premier lieu les gonades. Lors d'une experience in situ d'une duree de 6 mois, des coques saines ont ete implantees dans un site naturellement infeste, afin d'estimer l'effet de 3 facteurs (taille, densite et degre de parasitisme) sur la croissance et l'infestation des coques. Differentes reponses ont ete observees selon les especes de trematodes. Les resultats de cette experience suggerent par ailleurs un phenomene de competition entre les trematodes pour infester leur hote. Des mesures de debit ventilatoire en laboratoire ont montre que les coques parasitees par l. Minimus ou himasthla spp. Consomment moins d'oxygene que les coques saines. Cette difference etait due a la faible consommation d'oxygene de la masse parasitaire (chez l. Minimus, 20% de mo 2 pour une masse parasitaire egale a 50% du poids de l'hote). Par ailleurs, la consommation d'o 2 est beaucoup plus variable chez les coques saines que chez les coques parasitees, ce qui suggere que ces dernieres sont plus vulnerables face a des conditions environnementales defavorables, telles qu'une chute brusque de la salinite ou une rapide elevation de temperature.
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Famin, 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.

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Dans une période de ralentissement de la production théorique littéraire en France, la Poétique de la Relation d’Édouard Glissant apparaît comme une proposition novatrice qui renouvelle la conception de la littérature. Elle est le résultat d’une pensée qui suppose une prise de position épistémologique majeure, car elle produit dans le champ de la théorie littéraire un nouveau type de discours. Nous l’appellerons discours poético-théorique du littéraire car il est le reflet de la place que la poésie prend dans la proposition de l’auteur comme un moyen privilégié pour une réflexion sur le littéraire. Bien que Glissant veuille éviter tout système de pensée, son discours poético-théorique s’organise pour décrire et expliquer des phénomènes littéraires. La thèse actualise les interprétations et les usages jusque-là connus des concepts glissantiens et les met à l’épreuve d’un corpus d’auteurs des Amériques. L’étude d’Écue-Yamba-O d’Alejo Carpentier, l’analyse comparée de Hijo de Hombre d’Augusto Roa Bastos et de Texaco de Patrick Chamoiseau ainsi qu’une lecture de Sartorius. Le roman des Batoutos d’Édouard Glissant cernent de plus près les modalités par lesquelles se confirment l’adéquation et la productivité des outils que la Poétique de la Relation apporte réellement au domaine des études littéraires.Dans une période de ralentissement de la production théorique littéraire en France, la Poétique de la Relation d’Édouard Glissant apparaît comme une proposition novatrice qui renouvelle la conception de la littérature. Elle est le résultat d’une pensée qui suppose une prise de position épistémologique majeure, car elle produit dans le champ de la théorie littéraire un nouveau type de discours. Nous l’appellerons discours poético-théorique du littéraire car il est le reflet de la place que la poésie prend dans la proposition de l’auteur comme un moyen privilégié pour une réflexion sur le littéraire. Bien que Glissant veuille éviter tout système de pensée, son discours poético-théorique s’organise pour décrire et expliquer des phénomènes littéraires. La thèse actualise les interprétations et les usages jusque-là connus des concepts glissantiens et les met à l’épreuve d’un corpus d’auteurs des Amériques. L’étude d’Écue-Yamba-O d’Alejo Carpentier, l’analyse comparée de Hijo de Hombre d’Augusto Roa Bastos et de Texaco de Patrick Chamoiseau ainsi qu’une lecture de Sartorius. Le roman des Batoutos d’Édouard Glissant cernent de plus près les modalités par lesquelles se confirment l’adéquation et la productivité des outils que la Poétique de la Relation apporte réellement au domaine des études littéraires
At 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
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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/.

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Kerner, 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.

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Le cadre général de mon projet se situe dans la recherche de gènes contribuant à la prédisposition ou à la résistance à la tuberculose en se servant des exomes non seulement de patients tuberculeux mais aussi de ceux de patients MSMD. Il s’agit en particulier de comprendre pourquoi, lorsque des individus sont infectés par M. tuberculosis, certains (~10%) vont développer la maladie clinique (qui peut être plus ou moins sévère) alors que d’autres (~90%) ne présentent aucune symptomatologie (infection latente). Nous décrivons dans cette thèse la découverte d’une nouvelle étiologie génétique du MSMD au sein du gène IFNG, gouvernant le seul axe immunologique de défense anti-mycobactérienne connu. Nous rapportons aussi la première étiologie monogénique relativement commune de la tuberculose. Cette découverte est un des premiers exemples faisant le lien entre étiologies monogéniques à effets forts et variants communs obtenus par analyses GWAS. Compte tenu de l’histoire de la tuberculose, ce variant aurait pu être responsable à lui tout seul de la mort de 10 millions d’individus au cours des 2,000 dernières années. Finalement, nous étendons l’horizon d’étude de la tuberculose par la recherche d’étiologies digéniques à partir du développement d’une nouvelle méthode statistique. Elle est appropriée à l’étude de maladies dites monogéniques qui ne sont pourtant pas complètement expliquées par une seule lésion monogénique. La robustesse et la puissance de cette approche à identifier des interactions entre deux régions génétiques indépendantes ont été démontrées et réalisées tant sur des données simulées comme sur des données réelles (craniosynostose)
The 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)
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Debibakas, Audrey. "Poétiques d’archipélité : désancrages géographiques et littéraires". Thesis, Sorbonne Paris Cité, 2015. http://www.theses.fr/2015USPCA105.

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Le corpus interroge des œuvres désancrées, décentrées, mouvantes : loin d’être des unités séparées et indépendantes, les romans quoique singuliers entre en relation les uns avec les autres sur le plan thématique narratif. On peut donc identifier un univers romanesque, à la fois spécifique et commun. Les romans rayonnent à partir d’un lieu et d’une histoire commune et s’articulent autour de trois îles créant une véritable géographie scripturale : trois romans, trois îles de la Caraïbe, trois auteurs. L’archipel géographique comme l’archipel littéraire apparaissent comme le résultat d’une géographie malléable et/ou d’une écriture sans limite. L’espace dessiné et l’œuvre sont en perpétuelle construction. L’archipélité géographique mais aussi littéraire est, dans cette étude, à percevoir comme une façon de retrouver et rassembler les morceaux d’histoires, de mémoires. La Traite est proprement un « parler indicible » et ne donne lieu à aucun récit. C’est donc sur ce fond d’absence de mythe et d’épopées que s’inscrivent les œuvres du corpus. Elles tentent de retranscrire également la dimension lacunaire fragmentée, mettant en avant une pensée du vide, de l’absence, de l’indicible et de l’ineffable. Le « non-monde » initial laisse la place à l’émergence d’un nouveau lieu digénique narratif. Il s’agit d’une dématérialisation du lieu géographique dans l’espace narratif. Le lien archipélique retranscrit l’indicible et l’invisible des mémoires et des histoires oubliées par l’acte d’écriture. Non contente d’en décrire la vacance, les romans transforment la béance géographique, historique et mémorielle en atout littéraire et poétique. Ce qui était une carence pourrait s’avérer aujourd’hui un atout pour la pensée et, paradoxalement pour la création littéraire
The 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
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13

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.

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L’objet de ce travail est d’étudier les effets de la présence importante du féminin dans l’épopée médiévale, présence paradoxale dans la mesure où il s’agit de poèmes guerriers fortement empreints de masculinité. L’analyse s’appuie sur trois corpus épiques majeurs de France, de Byzance et de Perse, composés du XIe au XIIIe siècle. L’étude des personnages féminins dans un cadre comparatiste permet de faire ressortir leur degré d’impact sur la diégèse, de mettre en regard leurs relations de subordination mais aussi d’indépendance vis-à-vis de leurs homologues masculins, et de faire la part entre les stéréotypes misogynes et les marques de valorisation au sein des représentations littéraires. Le genre épique ayant été récemment redéfini comme le lieu privilégié de l’affrontement de valeurs sociétales antithétiques à travers l’emploi d’outils narratifs plutôt que conceptuels, nous souhaiterions montrer que ce fonctionnement peut aussi s’appliquer aux normes de genre. Parce que leur intervention au sein de l’action épique devient problématique dès lors qu’elle entre en concurrence avec celle des hommes, les femmes de l’épopée suscitent une remise en question permanente de ces normes. Qu’il soit indirect ou frontal, ce mouvement d’interrogation latent fait émerger une transgression proprement féminine, qui, lorsqu’elle conduit à l’héroïsme, autorise une relecture des œuvres allant à l’encontre des préjugés essentialistes
This 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
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14

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.

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15

Nelson, Martha. "Characterization of the chloroplast genome of selected dinoflagellates : mini- and digenic circles in adenoides eludens". Thesis, 2003. http://hdl.handle.net/2429/14149.

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DNA was isolated from three species of peridinin-containing dinoflagellate (Scrippsiella trochoidea, Prorocentrum micans and Adenoides eludens) and run through a CsCl density gradient to separate it into main (nuclear) and satellite (organellas) fractions. The fractions were hybridized with chloroplast gene probes. This showed that chloroplast genes are found on discrete pieces of satellite 2 DNA in two species: small pieces (~1.5 kb) in Prorocentrum micans, and larger pieces (5 kb, 9 kb and larger) in Adenoides eludens. These results were similar to those of Zhang et al. (1999), who discovered unigenic minicircles in the chloroplast DNA of the peridinin-containing dinoflagellate Heterocapsa triquetra. Sequence data for chloroplast genes psbA, psbC, and psbD were obtained from Adenoides eludens. Outward directed polymerase chain reaction (PCR) primers were designed for these genes to amplify minicircles, and products of 4.1 to 5.2 kb were obtained, indicating the likely presence of minicircles in the chloroplast DNA of this species. The outward PCR products from the psbA reaction were cloned. Sequencing revealed that clones of the psbA minicircle were different from one another, unlike the results of previous studies that showed that the sequence of minicircles containing the same gene are the same (Zhang et al. 1999, Zhang et al. 2002, Barbrook and Howe 2000, Barbrook et al. 2001, Hiller 2001). The clones did share some sequence identity, however, including some secondary structure, repeated motifs, and a 200 base pair conserved region. The length of the fully sequenced region was 4300 base pairs, making the minicircle 4489 base pairs in total. Outward and inward directed PCR primers from three chloroplast genes (psbA, psbC, and psbD) were used in all combinations to amplify many products ranging in size from 5.0 to 6.5 kb. The product resulting from the psbD Ro and psbA Fi primer pair was cloned. The sequence of the ends of three of these clones revealed that both of the gene ends (psbD and psbA) were present and that the non-coding regions of the clones were different from one another. Further experiments using nested PCR showed some similarities between these products and the psbA minicircles. This result implies that digenic circles may exist in Adenoides eludens.
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16

Kapsalykova, K. R., e К. Р. Капсалыкова. "Образы полководцев в византийской интеллектуальной традиции X–XI вв. : магистерская диссертация". Master's thesis, 2014. http://hdl.handle.net/10995/27975.

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Abstract (sommario):
Military victories of the Byzantine army of the second half X – the beginning of XI c. created to image of military commanders who were motivated by the ancient military tradition and society underlined of the hopes and expectations. They have influenced to the formation of images of military commanders in the Byzantine commonwealth and become part of the imperial idea. In the master's study is investigated to the main types of military commanders in the historical works - ideal Roman commander, the holy Christian defender and a new type of Byzantine warrior, protector of his family, a warrior-intellectual. The last type of military commanders will receive in the future the most widespread and will be, finally, very close to the courtly chivalric culture. This thesis is devoted to the nature, value and, most importantly, the perception of triumph and victorious rhetoric.
Диссертация 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.
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