Bibliografias temáticas / Digenism

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Literatura científica selecionada sobre o tema "Digenism"

Autor: Grafiati

Publicado: 7 de setembro de 2024

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Artigos de revistas sobre o assunto "Digenism"

Sáenz, Amets, e Adolfo López de Munain. "Dominant LGMD2A: alternative diagnosis or hidden digenism?" Brain 140, n.º 2 (5 de novembro de 2016): e7-e7. http://dx.doi.org/10.1093/brain/aww281.

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Vissing, John, e Morten Duno. "Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?" Brain 140, n.º 2 (15 de novembro de 2016): e8-e8. http://dx.doi.org/10.1093/brain/aww283.

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Behin, A., P. Laforêt, O. Dubourg, T. Maisonobe, P. Richard, M. Jeanpierre e B. Eymard. "G.P.7.11 Digenism as a cause of oculopharyngodistal myopathy". Neuromuscular Disorders 17, n.º 9-10 (outubro de 2007): 809. http://dx.doi.org/10.1016/j.nmd.2007.06.162.

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Caetano, Carollne, Manon Ricquebourg, Philippe Orcel, Stéphanie Fabre, Thomas Funck Brentano, Martine Cohen Solal e Corinne Collet. "Early onset idiopathic osteoporosis: digenism of wnt signaling pathway". Bone Reports 13 (outubro de 2020): 100354. http://dx.doi.org/10.1016/j.bonr.2020.100354.

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Beigi, Fahimeh, Marta Del Pozo-Valero, Inmaculada Martin-Merida, Irene Perea-Romero, Masoud Reza Manaviat, Carmen Ayuso e Nasrin Ghasemi. "Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease". Experimental Eye Research 207 (junho de 2021): 108533. http://dx.doi.org/10.1016/j.exer.2021.108533.

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Moraine, Claude, Frédérique Bonnet-Brilhault, Frédéric Laumonnier e Marie Gomot. "Could autism with mental retardation result from digenism and frequent de novo mutations?" World Journal of Biological Psychiatry 10, n.º 4-3 (janeiro de 2009): 1030–36. http://dx.doi.org/10.1080/15622970802627455.

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Bertrand, Anne T., Khadija Chikhaoui, Rabah Ben Yaou e Gisèle Bonne. "Clinical and genetic heterogeneity in laminopathies". Biochemical Society Transactions 39, n.º 6 (21 de novembro de 2011): 1687–92. http://dx.doi.org/10.1042/bst20110670.

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Mutations in the LMNA gene encoding lamins A/C are responsible for more than ten different disorders called laminopathies which affect various tissues in an isolated (striated muscle, adipose tissue or peripheral nerve) or systemic (premature aging syndromes) fashion. Overlapping phenotypes are also observed. Associated with this wide clinical variability, there is also a large genetic heterogeneity, with 408 different mutations being reported to date. Whereas a few hotspot mutations emerge for some types of laminopathies, relationships between genotypes and phenotypes remain poor for laminopathies affecting the striated muscles. In addition, there is important intrafamilial variability, explained only in a few cases by digenism, thus suggesting an additional contribution from modifier genes. In this regard, a chromosomal region linked to the variability in the age at onset of myopathic symptoms in striated muscle laminopathies has recently been identified. This locus is currently under investigation to identify modifier variants responsible for this variability.

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Chapon, F., C. Gartioux, C. Ledeuil, L. Demay, L. Brinas, D. Herlicoviez, S. Allouche et al. "G.P.1.03 Important variability in clinical severity in a family with Col VI-related myopathy: Potential implication of digenism?" Neuromuscular Disorders 18, n.º 9-10 (outubro de 2008): 731. http://dx.doi.org/10.1016/j.nmd.2008.06.029.

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Lecoq, Anne-Lise, Jérôme Bouligand, Mirella Hage, Laure Cazabat, Sylvie Salenave, Agnès Linglart, Jacques Young, Anne Guiochon-Mantel, Philippe Chanson e Peter Kamenický. "Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas". European Journal of Endocrinology 174, n.º 4 (2 de janeiro de 2016): 523–30. http://dx.doi.org/10.1530/eje-15-1044.

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ContextRecently, germline and somaticGPR101p.(E308D) mutation was found in patients with isolated acromegaly. It is not known whetherGPR101point mutations are associated with other histological types of pituitary adenoma.ObjectiveWe sought germlineGPR101mutations in patients with sporadic pituitary adenomas, and compared the phenotypes ofGPR101mutation carriers andAIPmutation carriers.DesignAn observational cohort study performed between 2007 and 2014 in a single referral center.ParticipantsThis prospective study involved 766 unselected patients (413 women) with sporadic pituitary adenomas of all histotypes.MethodsEntireGPR101andAIPcoding sequence were screened for germline mutations.ResultsTwelve patients (1.6%) were found to carry theGPR101p.(E308D) mutation or rareGPR101variants. The minor allele frequency of theGPR101mutation and variants was higher in patients with pituitary adenomas than in unaffected individuals included in the Exome Aggregation Consortium database. Three of the six patients with theGPR101p.(E308D) mutation had adult-onset acromegaly, two had adrenocorticotropin-secreting adenomas, and one had a nonfunctioning macroadenoma. Six patients carried rareGPR101variants. GermlineAIPmutations or rareAIPvariants were identified in 32 patients (4.2%).AIPmutation carriers were younger at diagnosis thanGPR101mutation carriers and non carriers. None of the patients harbored mutations in both theGPR101andAIPgenes.ConclusionGermlineGPR101mutations are very rare in patients with sporadic pituitary adenomas of various histotypes. No digenism withAIPwas identified. Further studies are required to establish whether and how genetic variation inGPR101gene contributes to pituitary tumorigenesis.

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Hendrickx, B. "‘Die dood van Digenis’ - mistifikasie van ’n Bisantynse held". Literator 14, n.º 1 (3 de maio de 1993): 99–106. http://dx.doi.org/10.4102/lit.v14i1.693.

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The Byzantine akritic poem, "The Death of Digenis", which manifests all the characteristics of the Byzantine Neo-Hellenic tragoudi, is a good exemplum of an epic song, where mystification (in its anthropological sense) is used to idealize the hero. Historically the akritic songs (9th - 13th cent. A.D.) refer to the ongoing war on Byzantium’s frontiers between the Christian defenders of the empire and the Moslem invaders. The poem's structure, its historical-epic elements and especially its symbolism are examined in this article. It thus becomes clear that the unknown poet juxtaposes present, past and future in such a way that Digenis’s heroic (but human) exploits of the past are integrated in a supernatural climax, where the hero in his struggle loses to Charon (Death - Archangel Michael). Consequently Digenis, whose name means ‘bom twice', complies on the one hand with the tragic destiny of an epic death, and on the other hand passes through a kind of initiation ritual into the Christian host of the heroes of Heaven.

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Mais fontes

Teses / dissertações sobre o assunto "Digenism"

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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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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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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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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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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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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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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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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Livros sobre o assunto "Digenism"

James, Kelly, e Lentarē Tina, eds. Pinakas symphrazomenōn tou Digenē Akritē, syntaxē E =: Concordance to Digenes Akrites, version E. Ērakleio: Panepistēmiakes Ekdoseis Krētēs, 1995.

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Paolo, Odorico, ed. Digenis Akritas: Poema anonimo bizantino. Firenze: Giunti, 1995.

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Leōnidou, Leōnidas Ph. Geōrgios Grivas Digenēs: Viographia. 2^a ed. Leukōsia: Ekdoseis K. Epiphaniou, 2009.

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Anna, Spitzbarth, ed. Digenes Akritas: Das byzantinische Epos. Baden: H.J. Schweizer, 1988.

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Fenik, Bernard. Digenis: Epic and popular style in the Escorial version. Herakleion-Rethymnon: Crete University Press, 1991.

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Sikelianos, Angelos. Vita lirica: Poesie scelte e scene della tragedia Digenis. Palermo: Istituto siciliano di studi bizantini e neoellenici, 1987.

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Mirabile, P. Digenis Akritas: L'épopée anatolienne sous les signes de la marginalité et de l'altérité : la sous-koinè anatolienne. [France]: Voies itinérantes, 2008.

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Mirabile, P. Digenis Akritas: L'épopée anatolienne sous les signes de la marginalité et de l'altérité : la sous-koinè anatolienne. [France]: Voies itinérantes, 2008.

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Alexiou, Stylianos. Vasileios Digenēs Akritēs. Athēna: Hermēs, 1990.

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Kalokyrē, Helenē. Vasileios Digenēs Akritas. 2^a ed. [Greece]: Kedros, 1993.

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Capítulos de livros sobre o assunto "Digenism"

Trapp, Erich. "Digenēs Akritēs". In Kindlers Literatur Lexikon (KLL), 1–2. Stuttgart: J.B. Metzler, 2020. http://dx.doi.org/10.1007/978-3-476-05728-0_7808-1.

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Castroviejo, Ricardo. "Digenite (dg/neodigenite)". In A Practical Guide to Ore Microscopy—Volume 1, 259–63. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-12654-3_43.

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Goldwyn, Adam J. "Zoomorphic and Anthomorphic Metaphors in the “Proto-Romance” Digenis Akritis". In Byzantine Ecocriticism, 39–84. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-69203-6_2.

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Chen, A. H., K. Fukushima, W. T. McGuirt e R. J. H. Smith. "DFNB15: Autosomal Recessive Non-Syndromic Hearing Loss Gene - Chromosome 3q, 19p or Digenic Recessive Inheritance?" In Advances in Oto-Rhino-Laryngology, 171–75. Basel: KARGER, 2000. http://dx.doi.org/10.1159/000059089.

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"Digenis Akritis: Description of Digenis’ Palace". In Sources for Byzantine Art History, 598–606. Cambridge University Press, 2022. http://dx.doi.org/10.1017/9781108672450.055.

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"digenite". In Dictionary Geotechnical Engineering/Wörterbuch GeoTechnik, 376. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-41714-6_41961.

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"Digenis Akritis: Description of the Υoung Digenis". In Sources for Byzantine Art History, 1043–46. Cambridge University Press, 2022. http://dx.doi.org/10.1017/9781108672450.095.

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"digenite, n." In Oxford English Dictionary. 3^a ed. Oxford University Press, 2023. http://dx.doi.org/10.1093/oed/9011881545.

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"Digenic Diseases". In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 507–8. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_4460.

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"Digenes Akrites". In Christian-Muslim Relations. A Bibliographical History. Volume 3 (1050-1200), 434–39. BRILL, 2011. http://dx.doi.org/10.1163/ej.9789004195158.i-804.261.

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Trabalhos de conferências sobre o assunto "Digenism"

Brodbeck, Maurice, Sean Harrison McClenaghan, Balz Samuel Kamber e Patrick Redmond. "Redistribution of Rare Metal(loids) during Digenite Exsolution in Porphyry Copper Ores". In Goldschmidt2020. Geochemical Society, 2020. http://dx.doi.org/10.46427/gold2020.264.

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Birch, David G., Gabriel H. Travis, Kirsten G. Locke e Donald C. Hood. "Rod Ergs in Mice and Humans with Putative Null Mutations in the RDS Gene". In Vision Science and its Applications. Washington, D.C.: Optica Publishing Group, 1997. http://dx.doi.org/10.1364/vsia.1997.ma.4.

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Mutations causing autosomal dominant retinitis pigmentosa (RP) have been identified in RDS, the human homologue of the gene that was first identified and isolated as the cause of mouse "retinal degeneration slow" or rds (1, 2). The rds gene encodes rds/peripherin, an integral membrane glycoprotein located in outer segment disks (1, 3, 4). More than 15 distinct disease-causing mutations in the RDS gene have been reported (5). The clinical phenotypes include adRP, dominant retinitis punctata albescens, dominant butterfly shaped pigment dystrophy of the fovea and autosomal dominant macular degeneration (6). That RDS mutation can cause either RP and/or macular degeneration is consistent with the observation that the protein is expressed in both rods and cones, though its exact functional role in each photoreceptor must be different. Finally, there is an additional form of retinitis pigmentosa, digenic RP (7) that results from a combination of one mutation in RDS and one in R0M1. Neither mutation alone in a heterozygote causes degeneration.

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Relatórios de organizações sobre o assunto "Digenism"

Juvik, John A., Avri Bar Zur e Torbert R. Rocheford. Breeding for Quality in Vegetable Maize Using Linked Molecular Markers. United States Department of Agriculture, janeiro de 1993. http://dx.doi.org/10.32747/1993.7568764.bard.

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Recently, the vegetable corn industry has shifted from the use of traditional cultivars with the sugary1 (su1) endosperm mutation to newer hybrids homozygous for the shrunken2 (sh2) or sugary enhancer1 (se1) genes. With greater kernel sucrose content, these hybrids are preferred by consumers and retain sugar for longer post harvest periods, providing the industry with more time to marker products with superior quality. Commercialization has been hindered, however, by reduced field emergence, and the establishment of stands with heterogeneous uniformity and maturities. This investigation was conducted to identify key biochemical and physiological characteristics in sh2 and se1 maize kernels associated with improved emergence, and stand establishment; and in immature ears at fresh harvest maturity, properties associated with eating quality. The location of genes or QTL controlling these kernel characteristics and other traits were then mapped to specific chromosomal regions by their linkage to molecular markers using two segregating F2:3 populations. This database was used to compare the efficiency of marker-assisted selection of key alleles with phenotypic selection for trait improvement. A model designed to uncover and quantify digenic interaction was applied to the datasets to evaluate the role of epistasis in the inheritance of quantitative traits.

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