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Статті в журналах з теми "Maladies rares – Génétique"
Turrini, Mauro, Jérôme Connault, and Catherine Bourgain. "Des tests génétiques pour prédire des maladies communes." médecine/sciences 36, no. 5 (May 2020): 515–20. http://dx.doi.org/10.1051/medsci/2020083.
Повний текст джерелаPerdu, J. "Génétique des maladies vasculaires rares." Journal des Maladies Vasculaires 33 (March 2008): S8. http://dx.doi.org/10.1016/j.jmv.2008.01.101.
Повний текст джерелаMalak, S. "Leucémies liées à des traitements anticancéreux : spécificités, difficultés et perspectives." Psycho-Oncologie 11, no. 4 (December 2017): 203–9. http://dx.doi.org/10.3166/s11839-017-0632-z.
Повний текст джерелаCampion, D. "Génétique épidémiologique de la schizophrénie. Données récentes et stratégies de recherche." Psychiatry and Psychobiology 4, no. 3 (1989): 139–50. http://dx.doi.org/10.1017/s0767399x00001565.
Повний текст джерелаTusseau, Maud, and Alexandre Belot. "Maladies auto-immunes rares : place de la génétique, exemple du lupus systémique." Biologie Aujourd’hui 218, no. 1-2 (2024): 9–18. http://dx.doi.org/10.1051/jbio/2024005.
Повний текст джерелаBonnot, O. "Formes organiques des pathologies psychiatriques : l’exemple des maladies neurométaboliques." European Psychiatry 28, S2 (November 2013): 14. http://dx.doi.org/10.1016/j.eurpsy.2013.09.033.
Повний текст джерелаRoy, Raymond, Gérard Bouchard, and Manon Declos. "La première génération de Saguenayens : provenance, apparentement, enracinement." Articles hors thème 17, no. 1 (October 24, 2008): 113–34. http://dx.doi.org/10.7202/600632ar.
Повний текст джерелаFaivre, Laurence, Antonio Vitobello, Magali Padre, Sylvie Odent, Laetitia Domenighetti, Gwendoline Giot, and Christel Thauvin. "L’errance et l’impasse diagnostiques dans les maladies rares d’origine génétique." Les Tribunes de la santé N°62, no. 4 (2019): 79. http://dx.doi.org/10.3917/seve1.062.0079.
Повний текст джерелаBallouhey, Océane, Marc Bartoli, and Nicolas Levy. "CRISP(R)ation musculaire." médecine/sciences 36, no. 4 (April 2020): 358–66. http://dx.doi.org/10.1051/medsci/2020081.
Повний текст джерелаKottler, Marie-Laure. "Pseudo-hypoparathyroïdie et ses variants." médecine/sciences 38, no. 8-9 (August 2022): 655–62. http://dx.doi.org/10.1051/medsci/2022103.
Повний текст джерелаДисертації з теми "Maladies rares – Génétique"
Olivier-Faivre, Laurence. "Etude clinique et cartographie génétique des dysplasies microméliques rares avec petite taille." Paris 5, 2002. http://www.theses.fr/2002PA05N120.
Повний текст джерелаBone dysplasias with short stature and micromelia correspond to a large group of diseases, often rare, not well-defined and without known molecular bases. The first goal of this work was to give a better definition of the nosologic features of some of them including Weill-Marchesani syndrome. Desbuquois dysplasia and acromicric dysplasia by analysing clinical and radiological features of series of patients ascertained through international collaborations. The second goal of this work was to identify the molecular basis of some bone dysplasias with short stature and micromelia. In particular, we found linkage to chromosome 19p13. 3-p13. 2 in autosomal recessive Weill-Marchesani syndrome and. .
Désir, Julie. "Etude génétique de maladies rares chez des patients issus de mariages consanguins." Doctoral thesis, Universite Libre de Bruxelles, 2009. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/210351.
Повний текст джерелаNous avons recruté dans ce travail des cas familiaux ou sporadiques de six maladies autosomiques récessives rares de gène inconnu.
La stratégie de cartographie par homozygotie nous a permis de mettre en évidence de nouveaux loci morbides dans quatre de ces maladies (épilepsie myoclonique progressive EPM3 ;syndrome marfanoïde avec microsphérophakie ;atrophie optique isolée ;et syndrome de microcéphalie et diabète précoce) ou de réduire la taille de loci déjà connus (microcéphalies primaires MCPH2 et MCPH4 ;et syndrome de Harboyan CDPD1). Nous avons pu caractériser de nouvelles mutations dans les gènes déjà connus ASPM (microcéphalie primaire MCPH5) et SLC4A11 (syndrome de Harboyan) et corréler celles-ci aux données cliniques. Enfin nous avons identifié les gènes KCTD7 et LTBP2 comme responsables respectivement des maladies EPM3 et syndrome marfanoïde avec microsphérophakie, en y découvrant des mutations chez les malades.
Doctorat en Sciences médicales
info:eu-repo/semantics/nonPublished
Correard, Solenne. "Analyses génétiques et génomiques de maladies neurologiques chez le chien comme modèle de maladies rares humaines." Thesis, Rennes 1, 2018. http://www.theses.fr/2018REN1B028/document.
Повний текст джерелаThe identification of genetic mutations involved in rare diseases is a prerequisite for a better understanding, therapies and care to patients. To this aim, animal models declaring spontaneous diseases, homologous to human diseases are very promising. Dogs spontaneously develop genetic diseases, rare in humans, but frequent in some dog breeds, which simplifies the genetic analyzes. My thesis focused on two neurological diseases: epilepsy and neuropathy. For epilepsy, the goal was to identify genetic variants from genotyping data and sequencing of whole genome of dogs from two predisposed breeds. A disease-related locus has been identified in one breed and candidate point mutations and structural variants were identified in the two breeds and are being validated by targeted sequencing. For neuropathy, the team previously identified a mutation upstream of the GDNF gene, responsible for sensory neuropathy in hunting dogs. I participated to the functional validation of this mutation. In addition, GDNF being an excellent candidate gene for human neuropathies, I sequenced this gene in 111 patients and extracted GDNF variants from a database of exomes and genomes from more than 600 patients. I identified 21 rare or unknown variants and prioritized them according to their in silico predicted impacts. These two projects, combining genetics, genomics and functional analyses, in humans and dogs, show the dog's potential for identifying candidate genes in rare and / or complex diseases in humans
Albuisson, Juliette. "Application des stratégies combinées utilisant le séquençage d'exome dans les maladies vasculaires rares." Thesis, Sorbonne Paris Cité, 2015. http://www.theses.fr/2015USPCB119/document.
Повний текст джерелаIdentifying genes of Mendelian disorders has started within the eighties. The pace of new genes discovery has been dramatically accelerated by the availability of the human genome sequence in the 2000s, and the next-generation sequencing technologies in the 2010s. However, a majority of the elucidated conditions so far correspond to relatively simplified situations, where the prevalence and the penetrance of the condition are high and the genetic heterogeneity is low. Nowadays, geneticists meet more and more situations where gene identification in unknown disorders can be tricky. Heritable conditions that are very rare, heterogenous or with imperfect Mendelian transmission can only be elucidated using large cohorts of patients, with a very well-characterized phenotype. This requires clinical, financial and logistical efforts to be made by the research teams. Generally, using exome sequencing alone is not efficient enough to elucidate these types of conditions. The power of recently developed strategies comes from its association with other genetic analysis tools, that have been specifically developed in the context of rare, heterogenous, or polygenic disorders. I employed exome sequencing in the identification of cardiovascular genetic conditions, using three different strategies. In the first condition, called hereditary xerocytosis, using linkage analysis together with exome sequencing of distant relatives was successful in identifying the causative gene. This was made possible by the identification of a reliable endophenotype, and the relative genetic homogeneity of the disorder. The second condition I studied is the abdominal aortic aneurysm (AAA), a common disorder with a strong hereditary component and rare situations of fully penetrant, dominant inheritance. I combined exome sequencing in a family with dominant inheritance with rare variants analysis of the candidate gene in a large cohort of sporadic AAA. This analysis is more complex and can be hazardous in the context of a candidate gene approach. The third strategy was developed for the study of fibromuscular dysplasia (FMD) which is a very heterogenous condition with low penetrance and no specific endophenotype. I combined exome sequencing in a group of 30 cases and relatives with filtering strategies for any type of Mendelian inheritance. I also used available bioinformatics tools and databases for refining the candidate genes filtering. This strategy provided promising results, probably due to the genetic characteristics of this condition. In each of these examples, I adapted the analysis strategy to the peculiarities of the disorder. The results presented here enable to evaluate the efficiency of combined approaches using exome sequencing. Their specificities, limits, and the optimization that need to be done to elucidate the remaining unsolved genetic conditions are discussed
Petit, François Mickael. "Aspects moléculaires des maladies rares du métabolisme hépatique : à propos de la maladie de Crigler-Najjar." Nantes, 2008. https://archive.bu.univ-nantes.fr/pollux/show/show?id=5dcfa87e-f2cb-468d-8a87-767381d67fe9.
Повний текст джерелаCrigler-Najjar syndrome is a rare hepatic disorder due to partial or total deficiency of enzymatic activity of UGT1A1 involved in bilirubin conjugation. The disease manifests itself during the first hours of life by intense and persistent unconjugated hyperbilirubinaemia. Affected children are at high risk to develop brain non-reversible damages (kernicterus) due to bilirubin encephalopathy. Since 1952 and the description of this syndrome by Crigler and Najjar, molecular studies allowed to identify the gene. UGT1A1 gene is located on the terminal part of the chromosome 2 and is composed of 5 exons. Crigler-Najjar syndrome can take two forms: type I with complete and non-inducible enzymatic deficiency and type II with non-complete and inducible enzymatic deficiency. In this work, we have described new mutations responsible for Crigler-Najjar syndrome type I or II and we have analysed them in terms of phenotype-genotype correlations. Secondly we have studied two families with non-canonical presentation (first description of paternal isodisomy for chromosome 2, molecular characterisation of a large deletion in UGT1A1 gene), highlighting the importance of familial investigations in this syndrome. In the last part, we have molecularly characterised a founder effect for the mutation c. 1070A>G in the Tunisian population, in whom Crigler-Najjar syndrome is particularly frequent
Boucand, Marie-Hélène. "Les maladies rares d'origine génétique : pour une médecine de l'adaptabilité et une éthique de subjectivation." Thesis, Lyon 3, 2015. http://www.theses.fr/2015LYO30048.
Повний текст джерелаRare diseases have only recently been identified. They set up quite a lot of diagnostic difficulties because not well-known yet by the medical profession .They sometimes occure by (ou bien with? With symptoms we named as being disqualifying because mainly subjective and without any outbreak possibly objective or evident by biology or medical imaging.Our work is at the crossroad of philosophy and social psychology. Week-end worked on the base of actual experience of 16 sick patients cases who took part in our research through semi-managed talks. So,main themes of their actual current experience could be identified : the pathological of the suffering person, the models of representation,the images used to express the genetics and the rare case, the link with the medical profession and the social experience of the diseases. For the patients concerned,these rare diseases are neither diseases nor handicaps but in-between cases.Taking into account that 80% of rare diseases have a genetique genetic origine origin ,we explored how this theory involves in the way it is lived. The imaginary of genetics still is still very pregnant,calling forth the causal linear origin of the disease and all hopes for recovery .It is often connected to a representation of the error,the fault or the malformation that happened at the time of fecondation. It is with all these representations that patients will have to rebuild their life,upset by the disease against which unfortunately more often most of the time ,no therapy exists yet. This research lead us to view a therapy that would combine a therapy of uncertainty and admit the limits of medical knowledge. In the end, this therapy should be able to become the therapy of an adaptation supporting the adaptability work of the patient who has to find his way to keep being a human person. in spite of the limits compelled by the disease. All along this sometimes very long way, the exchange of knowledge and an amazing solidarity among the patients within the associations back up the patient's capacities to rebuild himself as a subject, giving him the possibility of living his fate as a destiny
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.
Повний текст джерелаHigh 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
Morkmued, Supawich. "Approches cliniques, précliniques et translationnelles des anomalies bucco-dentaires associées aux maladies rares." Thesis, Strasbourg, 2017. http://www.theses.fr/2017STRAJ040.
Повний текст джерелаThe goal of this thesis is to investigate genetic and environmental factors, both initiating and influencing signaling centers that regulate tooth development and thus producing associated defects. Essentially, my research program utilizes patient-based rare disease phenotypes to create novel mouse models. This study also involved investigating the developmental effects of excess retinoic acid on enamel formation to gain understanding of the mechanisms by which environmental factors can alter enamel development. Other studies investigated enamel and dental anomalies in Ltbp3 and Smoc2 mutant mice. These results advance our understanding of tooth development, and may translate towards optimizing clinical diagnosis, and improving treatment strategies for several human rare diseases. An improved understanding of rare disease models and our testing of clinically relevant approaches using rodent models is a feasible approach to address bone degeneration problems
Bonnart, Chrystelle. "Etude fonctionnelle de LEKTI et de sa nouvelle cible, l'élastase 2 pancréatique." Toulouse 3, 2007. http://thesesups.ups-tlse.fr/698/.
Повний текст джерелаNetherton syndrome (NS) is a severe autosomal recessive skin condition characterized by congenital erythoderma, a specific hair shaft defect (Trichorrhexis invaginata) and a broad range of atopic manifestations. In 2000, we identified SPINK5 as the defective gene in NS. SPINK5 encodes LEKTI, a Kazal-type protease inhibitor, which is expressed in the granular layer of the epidermis. In order to understand the role of LEKTI in skin homeostasis, we undertook structural and functional studies. We showed that LEKTI is expressed as three high molecular weight precursors rapidly cleaved by furin in the intracellular compartment of keratinocytes prior to its secretion. Proteolytic maturation of LEKTI gives rise to a panel of proteolytic fragments carrying their own inhibitory capacity profile against epidermal kallikreins (KLK) 5, 7 and 14. In order to investigate the role of LEKTI in vivo, and to understand the pathophysiological events underlying NS, we have genetically engineered mice with a targeted disruption of Spink5. Spink5 deficient newborn mice suffer from severe skin erosions due to excessive desmosomal component cleavage by unregulated KLK5 and KLK7. In addition, we have identified by mass spectrometry a new epidermal proteinase, pancreatic elastase 2 (Ela2), which is hyperactive in the absence of LEKTI. In order to understand its biological role and to investigate its specific contribution to the development of the NS phenotype, we engineered Ela2 transgenic mice. The study of these mice demonstrates that Ela2 is involved in several aspects of the NS phenotype, and thus identifies Ela2 as a novel potential therapeutic target for the treatment of this orphan disease
Masson, Aymeric. "Approches multi-omiques des anomalies transcriptionnelles dans les maladies rares du développement." Electronic Thesis or Diss., Bourgogne Franche-Comté, 2024. http://www.theses.fr/2024UBFCI006.
Повний текст джерелаGene expression occurs through the transcription process in the nucleus of eukaryotic cells, which produces RNAs, essential intermediates for protein formation. RNA synthesis and fate are controlled by a complex network of factors, among which are regulatory non-coding DNA sequences that ensure precise spatio-temporal regulation of gene expression and heterogeneous nuclear ribonucleoproteins (hnRNP), able to bind RNA molecules and contributing to their maturation, stability, and localization.The current standard approach for molecular exploration of patients with developmental disorders (DD) and/or intellectual disabilities (ID) uses a combination of chromosomal analysis using DNA microarrays, fragile X testing, exome sequencing, and more recently, genome sequencing to establish a molecular diagnosis. These approaches yield a diagnostic yield of less than 50% for DD/ID. However, the analyses sometimes reveal the presence of variations of uncertain significance in candidate genes not yet implicated in human pathology. Functional tests are then necessary to establish a correct genotype-phenotype correlation. In this way, pathogenic variations have been identified in two candidate genes encoding hnRNPs involved in RNA metabolism: PTBP1 and PTBP2. The aim of this first study is to describe the cellular pathophysiological mechanism related to transcriptional defects causing syndromic (for PTBP1) or non-syndromic (for PTBP2) neurodevelopmental impairment using in vitro and in vivo functional molecular approaches including RNA immunoprecipitation sequencing (RIP-seq) in a cohort of affected individuals.In some cases, genomic analysis identifiy complex structural variations that can disrupt the sequence of a dosage-sensitive gene, alter the activity of an enhancer, or exert position effects on gene expression by altering enhancer/target gene interactions. These molecular communications are facilitated within topological associating domains (TADs), which play an important role in tissue-specific transcriptional regulation. Consequently, any structural variation that reorganizes TADs (fusion, shuffling or even new TAD) can lead to an alteration in gene expression. In this context, the goal of this second research project is to characterize, through high-throughput chromosome conformation capture (Hi-C), the complex rearrangements in patients reorganizing the structure of TADs. Combined with other omic techniques such as long fragment sequencing, transcriptomic or epigenomic analysis, this approach allows the study of the underlying molecular mechanisms on different cellular models derived from affected individuals.These research efforts highlight the physiopathological impact of punctual and structural genetic variations on the transcriptional and post-transcriptional regulatory mechanisms of target genes and pave the way for new biological hypotheses in the context of translational research in human pathology
Книги з теми "Maladies rares – Génétique"
Glader, B., W. Barcellini, and R. Grace. Fast Facts : déficit en Pyruvate Kinase: Sensibilisation à Cette Maladie Génétique Rare. Karger AG, S., 2019.
Знайти повний текст джерелаGrace, Rachael. Fast Facts : le déficit en Pyruvate Kinase Pour les Patients et les Accompagnants: Une Maladie Génétique Rare Qui Affecte les Globules Rouges. Karger AG, S., 2019.
Знайти повний текст джерелаSimón, Carlos, and Carmen Rubio. Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine: Improving Patient Success Rates and Infant Health. Taylor & Francis Group, 2017.
Знайти повний текст джерелаHandbook of New Genetic Diagnostic Technologies in Reproductive Medicine: Improving Patient Success Rates and Infant Health. Taylor & Francis Group, 2017.
Знайти повний текст джерелаSimón, Carlos, and Carmen Rubio. Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine: Improving Patient Success Rates and Infant Health. Taylor & Francis Group, 2017.
Знайти повний текст джерелаSimón, Carlos, and Carmen Rubio. Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine: Improving Patient Success Rates and Infant Health. Taylor & Francis Group, 2017.
Знайти повний текст джерелаSimón, Carlos, and Carmen Rubio. Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine: Improving Patient Success Rates and Infant Health. Taylor & Francis Group, 2017.
Знайти повний текст джерелаHandbook of New Genetic Diagnostic Technologies in Reproductive Medicine: Improving Patient Success Rates and Infant Health. Taylor & Francis Group, 2018.
Знайти повний текст джерелаЧастини книг з теми "Maladies rares – Génétique"
Textoris, Julien, and Marc Leone. "Aspects génétiques des maladies rares." In Maladies rares en réanimation, 11–20. Paris: Springer Paris, 2010. http://dx.doi.org/10.1007/978-2-287-99070-0_1.
Повний текст джерелаBordet, Céline, Sandrine Brice, Sophie Tezenas du Montcel, Marcela Gargiulo, and Philippe Charron. "5. Impact psychosocial du test génétique prédictif dans les maladies cardiaques héréditaires." In Maladies rares, 85–101. Érès, 2023. http://dx.doi.org/10.3917/eres.gargi.2023.01.0085.
Повний текст джерелаAntoine, Pascal, Carole Fantini-Hauwel, Élodie Brugallé, Laura Geerts, Florence Petit, Clémence Vanlerberghe, Fabienne Escande, and Sylvie Manouvrier. "4. Vivre avec une maladie génétique rare : analyse interprétative phénoménologique de la construction de soi avec le syndrome de Holt-Oram." In Maladies rares, 67–84. Érès, 2023. http://dx.doi.org/10.3917/eres.gargi.2023.01.0067.
Повний текст джерелаChaumet, Hélène, and Françoise Houdayer. "Maladies rares d’origine génétique : des malades en quête d’identité." In Handicap : une identité entre-deux, 157. ERES, 2017. http://dx.doi.org/10.3917/eres.korff.2017.01.0157.
Повний текст джерелаChassard, D. "Maladies génétiques à prions." In Prise en charge des maladies rares en anesthésie et analgésie obstétricales, 594–96. Elsevier, 2015. http://dx.doi.org/10.1016/b978-2-294-74764-9.00168-0.
Повний текст джерела"Bibliographie." In Une approche éthique des maladies rares génétiques, 323–40. Érès, 2018. http://dx.doi.org/10.3917/eres.bouca.2018.01.0323.
Повний текст джерелаТези доповідей конференцій з теми "Maladies rares – Génétique"
Lafont, J., J. H. Catherine, M. Lejeune, U. Ordioni, R. Lan, and F. Campana. "Manifestations buccales de la sclérose tubéreuse de Bourneville." In 66ème Congrès de la SFCO. Les Ulis, France: EDP Sciences, 2020. http://dx.doi.org/10.1051/sfco/20206603014.
Повний текст джерела