Literatura académica sobre el tema "Maladies rares – Étiologie"
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Artículos de revistas sobre el tema "Maladies rares – Étiologie"
Tiret, Laurence. "Gene-environment interaction: a central concept in multifactorial diseases". Proceedings of the Nutrition Society 61, n.º 4 (noviembre de 2002): 457–63. http://dx.doi.org/10.1079/pns2002178.
Texto completoMacher, Marie-Alice, Robert Novo y Véronique Baudouin. "Transition de soins de l’enfance et de l’adolescence à l’âge adulte en néphrologie". médecine/sciences 38, n.º 2 (febrero de 2022): 182–90. http://dx.doi.org/10.1051/medsci/2022003.
Texto completoBENBELLAL, Amina, Hanène BELABBASSI, Sarrah AIT ZIANE, Redha ALLOUTI y Houria KACED. "Clinical and etiological aspects of vertebral deviations secondary to osteochondrdysplasias". Batna Journal of Medical Sciences (BJMS) 5, n.º 1 (25 de diciembre de 2018): 68–73. http://dx.doi.org/10.48087/bjmsoa.2018.5116.
Texto completoHalkic, Abdelmoumene, Kianmanesh y Vuilleumier. "Blind Loop Syndrome". Swiss Surgery 8, n.º 5 (1 de octubre de 2002): 220–23. http://dx.doi.org/10.1024/1023-9332.8.5.220.
Texto completoGenton, Pierre y Michelle Bureau. "Les épilepsies myocloniques progressives : mythe ou réalité ?" Epileptic Disorders 6, S1 (diciembre de 2004). http://dx.doi.org/10.1684/j.1950-6945.2004.tb00086.x.
Texto completoLaargane, Aicha y Ahmed Gaouzi. "Allgrove syndrome: a rare etiology of adrenal insufficiency in pediatrics". Batna Journal of Medical Sciences (BJMS), 30 de junio de 2017, 117–20. http://dx.doi.org/10.48087/bjmscr.2017.4125.
Texto completoEchenne, B., A. Roubertie, V. Humbertclaude y F. Rivier. "Quand et comment rechercher une maladie neurologique devant une épilepsie de l'enfant d'allure cryptogénique ?" Epileptic Disorders 6, S1 (diciembre de 2004). http://dx.doi.org/10.1684/j.1950-6945.2004.tb00085.x.
Texto completoAdmin - JAIM. "Résumés des conférences JRANF 2021". Journal Africain d'Imagerie Médicale (J Afr Imag Méd). Journal Officiel de la Société de Radiologie d’Afrique Noire Francophone (SRANF). 13, n.º 3 (17 de noviembre de 2021). http://dx.doi.org/10.55715/jaim.v13i3.240.
Texto completoTesis sobre el tema "Maladies rares – Étiologie"
Ravichandran, Yamini. "Cdc42 isoforms : localization, functions and regulation". Electronic Thesis or Diss., Sorbonne université, 2020. http://www.theses.fr/2020SORUS405.
Texto completoMutations in proteins cause diverse developmental disorders, particularly for individuals with rare diseases or for whom a unifying clinical diagnosis is unknown. Cdc42 is one such protein; vital for establishing cell polarity, a crucial step in many biological processes such as cell migration, division and immune responses. Not surprisingly, mutations in Cdc42 cause a range of diseases such as growth dysregulation, facial dysmorphism and neurodevelopmental, immunological, and hematological abnormalities. In vertebrates there are two isoforms of Cdc42. The first being the ubiquitous isoform, has almost exclusively been studied and the role of the second isoform, being the brain isoform, is largely unknown. We have shown that the two isoforms are localized differently in cells. The ubiquitous isoform is mostly found in the cell cytoplasm and at the plasma membrane, while the Brain isoform localizes at the Golgi apparatus and on intracellular vesicles. We have also shown that the two isoforms carry out different functions during cell migration, suggesting that the differences between these two isoforms which only differs by the last 10 amino acids are responsible for their distinct localisation and function. Interestingly, a mutation in the C-ter sequence of Cdc42 ubiquitous isoform alters Cdc42 localisation and causes a generalized pustular psoriasis disease. Two main objectives have been studied in this project 1) the impact of the last amino acids of the protein in Cdc42 localization; and 2) new regulatory mechanisms of Cdc42 responsible for its intracellular localization. These findings will bring a better understanding of pathologies related to Cdc42 mutations
Sarrazin, Elisabeth. "L'insuffisance rénale aigue͏̈ : une étiologie rare dans la maladie de Berger (A propos d'une observation)". Bordeaux 2, 1997. http://www.theses.fr/1997BOR23028.
Texto completoAntonio, Marie de. "Statistiques et modèles de survie pour améliorer la connaissance d’une maladie rare, la dystrophie myotonique The DM-Scope registry: a rare disease innovative framework bridging the gap between research and medical care Unraveling the myotonic dystrophy type 1 clinical spectrum: a systematic registry-based study - Implications for disease classification". Thesis, Sorbonne université, 2020. http://www.theses.fr/2020SORUS096.
Texto completoMyotonic dystrophy (DM) is considered one of the most complex neuromuscular diseases. Although research work over the past 30 years has permitted a better understanding of its underlying molecular mechanisms, the unusual nature of its genetic anomalies, its multisystemic expression and its broad clinical spectrum do not allow, at the moment, optimal patient management. The purpose of my work was to deepen our knowledge of this rare disease and to clarify its natural history. The first part of my manuscript is dedicated to the presentation of the DM-Scope Registry, on which all my thesis work is based. After the description of the concept, the functioning and the data collection platform, the manuscript features the characteristics of the DM1 cohort, from which our analyses were conducted : the clinical spectrum covered, multisystemic impairment, genotype/phenotype correlations, interrelations between symptoms and comparison to myotonic dystrophy type II (DM2). In the second part, we focus on the major progress achieved through the existence of DM-Scope and the analyses conducted during my thesis: (i) detailing the natural history of the disease, in particular proposing a new classification; (ii) highlighting the phenotype’s determining factors such as gender, mutation size, interrelations between symptoms. This work has led to recommendations for care, in particular for the transition from child to adult, but also the validation of important inclusion criteria for clinical trials such as gender. DM-Scope provides access to available biological samples for basic research studies and validates new therapeutic approaches. DM-Scope is now a worldwide leader and an essential tool in translational research in DM. The DM-Scope concept can be transferred to any other population and can be used for care management in other rare diseases. Finally, we present the development of a survival model built from the DM-Scope cohort. This model has three specificities: (i) it is applicable to high dimensional data, in such cases as DM-Scope, where there is a large number of measurements; (ii) it takes into account competitive risks, when patients are simultaneously exposed to several events. In our registry, the study of respiratory-related deaths is biased if competing events such as heart disease deaths are not taken into account ; (iii) it models the heterogeneity between patient groups probably due to divergent care, called \og centres effects \fg{}. DM-Scope data analysis requires such specificity of frailty models due to its multicentric coverage (55 centres). This model can be transferred and applied to other data, considering the following : more and more large-scaled registries are being used ; a majority of survival analyses includes censorship caused by the occurrence of the event of interest ; multicentre studies have become increasingly common