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Auswahl der wissenschaftlichen Literatur zum Thema „Anomalies génétiques en mosaïque“
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Zeitschriftenartikel zum Thema "Anomalies génétiques en mosaïque"
BOICHARD, D., Aurélien CAPITAN, Coralie DANCHIN-BURGE und Cécile GROHS. „Avant-propos : Anomalies génétiques“. INRA Productions Animales 29, Nr. 5 (09.01.2020): 293–96. http://dx.doi.org/10.20870/productions-animales.2016.29.5.2995.
Der volle Inhalt der QuelleMeschede, D. „Anomalies génétiques de la spermatogenèse“. Andrologie 10, Nr. 3 (September 2000): 271–73. http://dx.doi.org/10.1007/bf03034747.
Der volle Inhalt der QuelleVialard, F., B. Mandon-Pépin, F. Pellestor, A. Ziyyat, M. Albert, D. Molina-Gomes, J. Selva und M. Fellous. „Anomalies génétiques et infertilité masculine“. Andrologie 19, Nr. 1 (März 2009): 2–16. http://dx.doi.org/10.1007/s12610-008-0002-y.
Der volle Inhalt der QuelleLeroux, D., C. Lefebvre und M. Callanan. „Anomalies génétiques des leucémies lymphoides chroniques“. Pathologie Biologie 51, Nr. 6 (August 2003): 366–74. http://dx.doi.org/10.1016/s0369-8114(03)00083-x.
Der volle Inhalt der QuelleLarsen, C. „Anomalies génétiques et moléculaires des glioblastomes (GBM)“. Bulletin du Cancer 97, Nr. 11 (November 2010): 1389–407. http://dx.doi.org/10.1684/bdc.2010.1215.
Der volle Inhalt der QuelleBOICHARD, Didier, C. GROHS, C. DANCHIN-BURGE und A. CAPITAN. „Les anomalies génétiques : définition, origine, transmission et évolution, mode d'action“. INRA Productions Animales 29, Nr. 5 (09.01.2020): 297–306. http://dx.doi.org/10.20870/productions-animales.2016.29.5.2997.
Der volle Inhalt der QuelleMartinel, S., D. Diene, M. Tauber und H. Boccalon. „C13 - Lymphœdème primitif, malformations physiques et anomalies génétiques“. Journal des Maladies Vasculaires 30, Nr. 4 (September 2005): 28. http://dx.doi.org/10.1016/s0398-0499(05)86289-4.
Der volle Inhalt der QuelleManus, Jean-Marie. „Infertilité masculine : des anomalies génétiques de la spermatogenèse“. Revue Francophone des Laboratoires 2019, Nr. 513 (Juni 2019): 12. http://dx.doi.org/10.1016/s1773-035x(19)30275-8.
Der volle Inhalt der QuelleDelerue, Marie, Coralie Lupo, Christel Marcillaud-Pitel und Margot Sabbagh. „L’Observatoire des anomalies équines : recenser les anomalies et identifier celles d’origine génétique“. Le Nouveau Praticien Vétérinaire équine 17, Nr. 59 (2023): 42–46. http://dx.doi.org/10.1051/npvequi/2024011.
Der volle Inhalt der QuelleAlhenc-Gelas, Martine. „Anomalies génétiques des protéines de la coagulation et thrombose“. Bio Tribune Magazine 11, Nr. 1 (September 2004): 40–41. http://dx.doi.org/10.1007/bf03022701.
Der volle Inhalt der QuelleDissertationen zum Thema "Anomalies génétiques en mosaïque"
Engel, Camille. „Description phénotypique de formes rares de trouble du développement intellectuel et caractérisation des mécanismes moléculaires impliqués“. Electronic Thesis or Diss., Bourgogne Franche-Comté, 2024. http://www.theses.fr/2024UBFCE006.
Der volle Inhalt der QuelleThe advent of new sequencing techniques has dramatically increased the diagnostic rate of intellectual disability (ID), and more than 2,000 genes are currently known to be involved. Despite these considerable progresses, interpreting the variants identified by sequencing methods remains challenging, and the natural history of newly described ID is often poorly understood. To better understand these disorders and their underlying mechanisms, we have studied four rare forms of ID with various inheritance patterns from both clinical and genetic perspectives. On one hand, we defined the clinical pictures associated with variations in BRAT1, CNOT3 and MTOR, and we investigated the existence of any phenotype-genotype correlations. On the other hand, we contributed to the design of a functional test to reclassify PQBP1 variants of uncertain significance
Sorlin, Arthur. „Caractérisation génomique des anomalies de la pigmentation cutanée en mosaïque“. Thesis, Bourgogne Franche-Comté, 2019. http://www.theses.fr/2019UBFCI011.
Der volle Inhalt der QuelleIntroduction: Mosaic cutaneous dyschromia is strongly evocative of an underlying genetic mosaicism. These post-zygotic events are challenging for conventional diagnostic tools. Thus, genetic basis of mosaic cutaneous dyschromia still remained poorly understood. Materials and Methods: The M.U.S.T.A.R.D. cohort gathers DNA from skin biopsies of patients with mosaic cutaneous dyschromia. After a specialised phenotype analysis, they are referred to either trio exome sequencing (ES) at 200X, or targeted ultra-deep sequencing (60,000X) of candidate genes. Data are analysed with a tailored pipeline, allowing detection of both low-rate nucleotidic variations or chromosomal events. Results: From 2013 to 2019, 101 patients were included. ES was performed for 56, with identification of mosaic SNV in 12 patients in 7 new genes, including 4 new genes (RHOA, DOCK1, GNA13, TFE3), and mosaic chromosomal anomalies in 17 patients. A targeted sequencing of these genes was performed for 40 more patients, with a confirmed mosaic SNV in 17, and a global diagnostic yield of 55% (46/84). Conclusion: This work highlights the importance of a versatile bioinformatic approach combined to a clinical expertise, to decipher the chromosomal and molecular aetiologies of developmental anomalies with mosaic cutaneous dyschromia. It also pinpoints the role of the Rho GTPase pathway, which will help enhancing our understanding of mosaic cutaneous dyschromia, and may ultimately result in better patients’ care
Montjean, Debbie. „Anomalies génétiques et épigénétiques associées à l'infertilité masculine“. Paris 6, 2011. http://www.theses.fr/2011PA066724.
Der volle Inhalt der QuelleDuchesne-Collardot, Amandine. „Approche moléculaire des anomalies génétiques chez les ruminants“. Versailles-St Quentin en Yvelines, 2006. http://www.theses.fr/2006VERS0031.
Der volle Inhalt der QuelleLa présente étude traite de quatre approches moléculaires pour l'étude des anomalies génétiques présentes en race bovine: la pathologie comparée combinée à la cartographie comparée, lorsque les pedigrees à disposition ne sont pas assez informatifs, le balayage du génome à l'aide de marqueurs génétiques afin d'obtenir une primolocalisation de l'anomalie, la cartographie fine d'un intervalle déjà identifié, 4. La génomique fonctionnelle, afin de réaliser le profil d'expression d'une région génomique donnée. L'utilisation de ces méthodes sur quatre anomalies génétiques bovines (l'ataxie progressive et le Syndrome Arthrogrypose-Palais fendu en race Charolaise, le Syndrome d'Hypoplasie Généralisée Capréoliforme en race Montbéliarde et la syndactylie en race Holstein) ouvre de nouvelles perspectives, tant pour la filière bovine, avec la mise au point de tests de dépistage que pour l'étude du développement des membres des mammifères. Enfin, les nouvelles approches de génomique fonctionnelle permettent d'envisager à "avenir un renouveau dans l'étude des caractères génétiques des animaux domestiques, et en particulier des bovins
Thieblemont, Catherine. „Contribution à l'analyse des anomalies génétiques impliquées dans la lymphomagénèse“. Lyon 1, 2000. http://www.theses.fr/2000LYO1T051.
Der volle Inhalt der QuelleFerfouri, Fatma. „Anomalies génétiques et épigénétiques de l’ADN spermatique et infertilité masculine“. Versailles-St Quentin en Yvelines, 2012. http://www.theses.fr/2012VERS0054.
Der volle Inhalt der QuelleThe male infertility seems to increase for several decades. Infertility etiologies are multiple, but the genetic and epigenetic causes are important. Here, we tried to study, the abnormalities carried by spermatozoa and sometimes transmissible in the conceptus. This work contains three parts, in a first time, the infertility linked with abnomalities of constitutionel karyotype by studying the consequences for the chromosomal risk with the risk estimated on all spermatozoa, in a second time, the infertility, with normal constitutionel karyotype, where the genetic origin was sometimes demonstrated and sperm morphology altered with macrocephalic sperm, Globozoospermia and spermatozoa with large or small vacuoles and in fine, DNA methylation abnormalities in various azoospermic aetiologies. These approaches have a triple interest because, it estimate the risks for conceptus and advice patients care, guide the choice of spermatozoa to be injected in the oocyte
Trouillot-Vinciguerra, Christine. „Caractérisation des anomalies génétiques responsables de la thrombasthénie de Glanzmann“. Lyon 1, 1996. http://www.theses.fr/1996LYO1T076.
Der volle Inhalt der QuelleMasliah-Planchon, Julien. „Complexe SWI/SNF et cancer _ Altérations génétiques et anomalies métaboliques“. Thesis, Université Paris-Saclay (ComUE), 2018. http://www.theses.fr/2018SACLS112/document.
Der volle Inhalt der QuelleNearly 20 years ago, the demonstration of truncated bi-allelic mutations in the SMARCB1 gene in rhabdoid tumors established the first demonstration of alterations in the SWI/SNF chromatin remodeling complex in oncology. Since then, the advent of high-throughput molecular analysis techniques applied to oncology has shown that alterations in other genes of the SWI/SNF complex are present in a wide variety of cancers. Through the presentation of several types of SWI/SNF deficient tumors and our models of rhabdoid tumors, we show that the loss of SMARCB1 is associated with an increase of the serine biosynthesis pathway and the downstream metabolic pathways important for oncogenesis.These results could lead to a therapeutic option for rhabdoid tumors or, more generally, for other models of SWI/SNF-deficient tumors. Finally, the prospect of these metabolic changes with the epigenetic alterations observed in SWI / SNF deficient tumors may be relevant to continue to deepen our knowledge of these tumors
Croullebois, Marie-Laurence. „Bases chromosomiques et génétiques des anomalies observées dans les croisements intraspécifiques chez le Millet : Setaria italica (L.) P. B“. Paris 11, 1987. http://www.theses.fr/1987PA112100.
Der volle Inhalt der QuelleBen, Abdelali Raouf. „Détection des anomalies génétiques dans les LAL-T : de la biologie à la clinique“. Thesis, Paris 11, 2011. http://www.theses.fr/2011PA11T013.
Der volle Inhalt der QuelleT-cell acute lymphoblastic leukemia (T-ALL) are lymphoid neoplasms characterized by theproliferation of malignant T lymphoblasts arrested at early stages of maturation. Maturation arrest in TALLmirrors normal lymphopoiesis. Thus we have shown that the myeloid transcription factor CEBPA,expressed only in the most immature thymic precursors (ETP), is commonly repressed byhypermethylation in T-ALL with the exception of the most immature subset. It is now widely acceptedthat T-ALL is a “multi-hits” disease where the type A oncogenes affect the differentiation while type Boncogenes are involved in cell cycle regulation, self-renewal and T-cell commitment. The Notchsignaling pathway, crucial for T cell development, is constitutively activated by the occurrence ofmutations in NOTCH1 and /or FBXW7 (N / F) genes in approximately 60% of T-ALL. The prognosticvalue of these mutations is controversial. In our study, we showed that N/F mutations are morefrequently observed in T-ALL arrested at a cortical stage of maturation and confer a good prognosiswhich seems to be influenced by the therapeutic regimen. In this large cohort of T-ALL we could alsodetermine the frequency of the CALM-AF10 oncogenic abnormality. The latter is very common in TALLdeveloped from ETP wich are of very poor prognosis. We have shown that this is the presence ofCALM-AF10 which confers the poor prognosis in this subtype of T-ALL. Contrary to the litterature wedid not find any prognostic value associated with the overexpression of ERG and BAALC genes. Thestudy of genetic abnormalities in T-ALL provides a better understanding of oncogenesis and identifyabnormalities with prognostic value. The interest of this work is to assist clinicians for an efficienttherapeutic stratification to overcome the poor outcome of T-ALL patients
Bücher zum Thema "Anomalies génétiques en mosaïque"
Duster, Troy. Backdoor to eugenics. 2. Aufl. New York, NY: Routledge, 2002.
Den vollen Inhalt der Quelle findenDuster, Troy. Backdoor to eugenics. New York: Routledge, 1990.
Den vollen Inhalt der Quelle findenEvaluer et faciliter la communication des personnes en situation de handicap complexe. : Polyhandicap, syndrome d'Angelman, syndrome de Rett, autres anomalies génétiques, autisme déficitaire, AVC sévère, traumatisme crânien, démences,... De Boeck, 2018.
Den vollen Inhalt der Quelle findenSimón, Carlos, und Carmen Rubio. Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine: Improving Patient Success Rates and Infant Health. Taylor & Francis Group, 2017.
Den vollen Inhalt der Quelle findenHandbook of New Genetic Diagnostic Technologies in Reproductive Medicine: Improving Patient Success Rates and Infant Health. Taylor & Francis Group, 2017.
Den vollen Inhalt der Quelle findenSimón, Carlos, und Carmen Rubio. Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine: Improving Patient Success Rates and Infant Health. Taylor & Francis Group, 2017.
Den vollen Inhalt der Quelle findenSimón, Carlos, und Carmen Rubio. Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine: Improving Patient Success Rates and Infant Health. Taylor & Francis Group, 2017.
Den vollen Inhalt der Quelle findenSimón, Carlos, und Carmen Rubio. Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine: Improving Patient Success Rates and Infant Health. Taylor & Francis Group, 2017.
Den vollen Inhalt der Quelle findenHandbook of New Genetic Diagnostic Technologies in Reproductive Medicine: Improving Patient Success Rates and Infant Health. Taylor & Francis Group, 2018.
Den vollen Inhalt der Quelle findenDuster, Troy. Backdoor to Eugenics. Taylor & Francis Group, 2003.
Den vollen Inhalt der Quelle findenBuchteile zum Thema "Anomalies génétiques en mosaïque"
Moulin, Cécile. „L’utopie parentale d’un enfant exempt de toute prédisposition génétique“. In Transhumanisme : de nouveaux droits ?, 171–92. Aix-en-Provznce: DICE Éditions, 2024. http://dx.doi.org/10.4000/11zc6.
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