Literatura científica selecionada sobre o tema "Relation génotype"
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Artigos de revistas sobre o assunto "Relation génotype"
QUINIOU, N. "Apports énergétiques et croissance du porc". INRAE Productions Animales 9, n.º 2 (17 de abril de 1996): 141–50. http://dx.doi.org/10.20870/productions-animales.1996.9.2.4043.
Texto completo da fonteTIXIER-BOICHARD, M. "Polymorphismes moléculaires et phénotypes". INRAE Productions Animales 13, HS (22 de dezembro de 2000): 55–61. http://dx.doi.org/10.20870/productions-animales.2000.13.hs.3811.
Texto completo da fonteBessière, A., J. Brouard, A. Vabret e F. Freymuth. "Infections respiratoires à rhinovirus de l'enfant: relation génotype viral et phénotype clinique". Revue Française d'Allergologie et d'Immunologie Clinique 46, n.º 6 (outubro de 2006): 601. http://dx.doi.org/10.1016/j.allerg.2006.09.077.
Texto completo da fonteRosmorduc, O., C. Kedzia, P. Y. Boelle, O. Chazouillères, B. Hermelin e R. Poupon. "C011 - Maladie lithiasique intrahépatique de cholestérol liée au gène ABCB4: relation phénotype-génotype". Gastroentérologie Clinique et Biologique 29, n.º 8-9 (agosto de 2005): 889. http://dx.doi.org/10.1016/s0399-8320(05)86376-6.
Texto completo da fonteMimault, C., G. Giraud, DPham Dinh, P. Saugier, F. Cailloux, A. Munnich, B. Dastugue, A. Dautigny e O. Boespflug-Tanguy. "Dysmyélinisations du SNC liées à des mutations du gène des protéolipoprotéines: relation phénotype-génotype?" Archives de Pédiatrie 2, n.º 4 (abril de 1995): 397. http://dx.doi.org/10.1016/0929-693x(95)90198-c.
Texto completo da fonteFasciglione, E., C. Courtillot, C. Dode e P. Touraine. "Hypogonadisme hypogonadotrope congénital chez la femme : relation phénotype-génotype d’une cohorte de 60 patientes". Annales d'Endocrinologie 79, n.º 4 (setembro de 2018): 224. http://dx.doi.org/10.1016/j.ando.2018.06.093.
Texto completo da fonteMairot, K., M. Gonzalves, G. Ho Wang Yin e D. Denis. "Quand un embryotoxon postérieur permet d’affirmer la relation phénotype-génotype dans un syndrome d’Alagille". Journal Français d'Ophtalmologie 42, n.º 10 (dezembro de 2019): e453-e454. http://dx.doi.org/10.1016/j.jfo.2019.06.005.
Texto completo da fonteThiébaut, B., B. Comps e A. Leroux. "Relation hauteur-génotype dans une régénération naturelle de hêtre (Fagus sylvatica L), équienne et âgée de 18 ans". Annales des Sciences Forestières 49, n.º 4 (1992): 321–35. http://dx.doi.org/10.1051/forest:19920402.
Texto completo da fonteGirerd, B., F. Coulet, M. Eyries, P. Dorfmuller, O. Sitbon, F. Soubrier, G. Simonneau, M. Humbert e D. Montani. "Relation phénotype/génotype chez les patients atteints d’une HTAP héritable due à une mutation affectant l’acide-aminé Arg873 de BMPRII". Revue des Maladies Respiratoires 31 (janeiro de 2014): A25. http://dx.doi.org/10.1016/j.rmr.2013.10.065.
Texto completo da fonteBertrand, X., A. Muller, M. Thouverez e D. Talon. "Retour vers la sensibilité aux antibiotiques des souches de Staphylococcus aureus résistant à la méticilline (SARM) : relation entre génotype et antibiotype". Pathologie Biologie 52, n.º 8 (outubro de 2004): 480–85. http://dx.doi.org/10.1016/j.patbio.2004.03.016.
Texto completo da fonteTeses / dissertações sobre o assunto "Relation génotype"
Frère, Corinne. "Thrombin-Activatable Fibrinolysis Inhibitor : étude de la relation génotype-phénotype". Aix Marseille 2, 2006. http://www.theses.fr/2006AIX20695.
Texto completo da fonteThe Thrombin-Activatable Fibrinolysis Inhibitor (TAFI) is a fibrinolysis inhibitor. A great interindividual variability in TAFI Ag levels has been described. In this work, we have demonstrated that TAFI gene polymorphisms explain 25% of TAFI level variability. This effect seems to be the consequence of the action of 2 polymorphisms. A trans-ethnic study enabled us to identify the T+1583A and -2345 2G/1G polymorphisms as potently QTNs. We have further studied the association between TAFI polymorphisms and coronary heart disease and demonstrated that the Thr147 allele is a risk factor for coronary heart disease. Finally, we have studied TAFI levels during myocardial infarction and thrombolysis
Girerd, Barbara. "Nouvelles approches génétiques dans l'hypertension artérielle pulmonaire humaine : relation phénotique - génotype". Paris 11, 2010. http://www.theses.fr/2010PA11T061.
Texto completo da fonteOdorico, Andréas. "Modéliser l'évolution de la relation génotype-phénotypes dans des réseaux de régulation". Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLS537/document.
Texto completo da fonteThe identification of genetic information as the as a physical basis for heredity put genes in the spotlight for the study of evolution and of the mechanisms shaping characters. However, the processes allowing genetic variation to translate into phenotypic variation are complex and their identification is crucial for the study of evolution.Genotype-phenotype relationship designates the function connecting the genotype and the phenotype spaces. Studying its properties will shed the light on mechanisms able to alter evolutionary trajectories and improve our understanding of the evolutionary process. I defend the importance of a mechanistic study of the processes translating genetic variation into a phenotypic one and use a model of transcriptional regulation networks to do so.This study tackles the topic of the effects of an environmental information on the genotype-phenotype relationship and its properties (especially canalization, the robustness of a phenotype to genetic or environmental disturbances). To do so, I studied the evolution of simulated regulatory networks in presence of a gene acting as an environmental sensor as well as in presence of non genetic inheritance.This document begins with a general discussion on the purpose of modelling approaches and the insights they bring on the study of complex phenomena. The results are discussed in the light of the debates on the necessity of an « evolutionary extended synthesis » to describe the evolutionary processes in a way hardly available with the gene-centered approach
Peter, Jackson. "Dissection de la relation génotype-phénotype par des études d'association chez Saccharomyces cerevisiae". Thesis, Strasbourg, 2017. http://www.theses.fr/2017STRAJ064/document.
Texto completo da fonteElucidating the genetic origin of phenotypic diversity among individuals within the same species is essential to understand evolution. Using whole genome sequences of 1,011 Saccharomyces cerevisiae isolates, my work sought to describe intraspecific genetic variation and investigate of its phenotypic consequences. Doing so, I obtained a precise view of the evolutionary history of S. cerevisiae. Phenotypic characterization provided the opportunity to perform genotype-phenotype genome-wide association studies with unprecedented power. I then focused on the evaluation of the parameters influencing genome-wide association studies, the appreciation of the limits of such an approach, and ways to circumvent them
David, Patrice. "Structures génétiques et relation génotype-phénotype en milieu marin : Le cas du bivalve "Spisula ovalis"". Montpellier 2, 1996. http://www.theses.fr/1996MON20143.
Texto completo da fonteDebut, Martine. "Etude génétique de la qualité de la viande de poulet en relation avec le stress avant abattage". Tours, 2004. http://www.theses.fr/2004TOUR4047.
Texto completo da fonteThis thesis aimed at estimating the genetic variability of stress response and muscle characteristics of chickens in relation with the technological quality of their meat. This work showed that a sib-selection for the final pH could efficiently improve the colour, water-holding capacity and texture of the breast meat. Besides, importance of stressless pre-slaughter conditions is highlighted in order to increase the animal-welfare and improve the quality of the meat quality
Becdelievre, Alix de. "Contribution à l'amélioration des connaissances sur la relation génotype-phénotype dans la mucoviscidose et caractérisation phénotypique de l'inflammation pulmonaire". Phd thesis, Université Paris-Est, 2011. http://tel.archives-ouvertes.fr/tel-00733488.
Texto completo da fonteBecdelièvre, Alix de. "Contribution à l’amélioration des connaissances sur la relation génotype-phénotype dans la mucoviscidose et caractérisation phénotypique de l’inflammation pulmonaire". Thesis, Paris Est, 2011. http://www.theses.fr/2011PEST0084/document.
Texto completo da fonteCystic fibrosis (CF) is the most common severe autosomal recessive disorder in the Caucasian population. Apart from classical CF, there is a broad range of phenotypes associated with a huge genotypic variability concerning the mutations in the CFTR gene. In order to develop a mutation specific therapeutic approach, a better understanding of the phenotype]genotype correlation and its underlying mechanism is primordial. In the first part of our work, we focused on genotype‐phenotype correlation. With a retrospective study on 694 cases of prenatal diagnosis of CF for fetal bowel anomalies, we report on the most evocative digestive abnormal patterns and propose to revise current strategies for the CFTR gene analysis. The second part concerns the CFTR promoter functional analysis. Mutations which conserve a residual CFTR channel function, such as mutations affecting the gene regulation, can be involved in atypical phenotypes. However, knowledge about the CFTR promoter reminds poor and the clinical significance of new variants identified in this region is difficult to evaluate. Our implementation of functional analysis tools will improve the appreciation of such new variants in the CFTR promoter and open new insights for the gene regulation study. In the third part, we contributed to study the inappropriate pulmonary inflammation which characterizes CF, the respiratory affection being the major factor of morbidity and mortality in the disease. COMMD1 is a pleiotropic protein involved in CFTR trafficking, ionic exchanges in the airways surface liquid and inflammation inhibition. In our study, we show the anti]inflammatory role of COMMD1 in the context of cystic fibrosis. Modulation of the exaggerated inflammation belongs to currently therapeutic challenges, and we show the ability of COMMD1, a protein partner of CFTR, to buffer the NF-kB pathway activation
Duarte, Kévin. "Du génotype au phénotype : Analyse comparée de mutations du gène de déficience intellectuelle PAK3". Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLS511.
Texto completo da fonteIntellectual Disability (ID) is often associated with other morphological and psychiatric clinical signs, but this comorbidity is poorly characterized for ID associated with a given gene. Thus mutations of the p21-activated kinase 3 (PAK3) gene are responsible for a broad clinical spectrum, ranging from mild ID to severe ID, sometimes associated with brain malformations. We hypothesize that different mutations of the same gene may affect various biochemical parameters and differentially affect the signaling pathways involved in synaptic plasticity and brain development. To validate our hypothesis, we characterized a new mutation responsible for a severe intellectual disability associated with agenesis of the corpus callosum and microcephaly. This mutation suppresses kinase activity, does not affect protein stability and increases the interaction with a GEF of the PIX family. These latest results identify a new signaling pathway impacted by certain PAK3 mutations. The expression of this variant modifies the cellular morphology and the dynamics of the focal adhesions, as well as cell migratory properties, which could link the biochemical defects to those of certain cell functions. Interestingly, these features are also found for another variant responsible for a very similar severe clinical spectrum. We have also characterized other mutations associated with less severe phenotypes. The synthesis of our results allows us to propose an explanatory model of the genotype-phenotype relationship integrating neurodevelopmental and synaptic plasticity defects for intellectual disability and other clinical traits associated to the PAK3 gene mutations
Chartrin, Pascal. "Évolution des dépôts adipeux intramusculaires au cours de la croissance et du gavage du canard : relation avec la qualité de la viande". Rennes 1, 2006. http://www.theses.fr/2006REN1S123.
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