Literatura académica sobre el tema "Les Mutations"
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Artículos de revistas sobre el tema "Les Mutations"
Tarlock, Katherine, Todd M. Cooper, Todd A. Alonzo, Robert Gerbing, Jessica Pollard, Richard Aplenc, E. Anders Kolb, Alan S. Gamis y Soheil Meshinchi. "Mutational Concordance from Diagnosis and Relapse in Pediatric Acute Myeloid Leukemia: A Report from the Children's Oncology Group". Blood 128, n.º 22 (2 de diciembre de 2016): 2846. http://dx.doi.org/10.1182/blood.v128.22.2846.2846.
Texto completoGARCÍA-DORADO, A., C. LÓPEZ-FANJUL y A. CABALLERO. "Properties of spontaneous mutations affecting quantitative traits". Genetical Research 74, n.º 3 (diciembre de 1999): 341–50. http://dx.doi.org/10.1017/s0016672399004206.
Texto completoWatters, M. K. y D. R. Stadler. "Spontaneous mutation during the sexual cycle of Neurospora crassa." Genetics 139, n.º 1 (1 de enero de 1995): 137–45. http://dx.doi.org/10.1093/genetics/139.1.137.
Texto completoEllis, Nathan A. "Mutation-causing mutations". Nature 381, n.º 6578 (mayo de 1996): 110–11. http://dx.doi.org/10.1038/381110a0.
Texto completoPawlik, Timothy M., Darrell R. Borger, Yuhree Kim, David Cosgrove, Sorin Alexandrescu, Ryan Thomas Groeschl, Vikram Deshpande et al. "Genomic profiling of intrahepatic cholangiocarcinoma: Refining prognostic determinants and identifying therapeutic targets." Journal of Clinical Oncology 32, n.º 3_suppl (20 de enero de 2014): 210. http://dx.doi.org/10.1200/jco.2014.32.3_suppl.210.
Texto completoKang, S., S. S. Seo, H. J. Chang, C. W. Yoo, S. Y. Park y S. M. Dong. "Mutual exclusiveness between PIK3CA and KRAS mutations in endometrial carcinoma". International Journal of Gynecologic Cancer 18, n.º 6 (2008): 1339–43. http://dx.doi.org/10.1111/j.1525-1438.2007.01172.x.
Texto completoChao, Mwe, Kathrin Thomay, Gudrun Goehring, Marcin Wlodarski, Victor Pastor, Brigitte Schlegelberger, Detlev Schindler, Christian Kratz y Charlotte Niemeyer. "Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms". Klinische Pädiatrie 229, n.º 06 (noviembre de 2017): 329–34. http://dx.doi.org/10.1055/s-0043-117046.
Texto completoHughes, Timothy, Giuseppe Saglio, Giovanni Martinelli, Dong-Wook Kim, S. Soverini, Martin Mueller, A. Haque et al. "Responses and Disease Progression in CML-CP Patients Treated with Nilotinib after Imatinib Failure Appear To Be Affected by the BCR-ABL Mutation Status and Types." Blood 110, n.º 11 (16 de noviembre de 2007): 320. http://dx.doi.org/10.1182/blood.v110.11.320.320.
Texto completoPálinkás, Hajnalka Laura, Lőrinc Pongor, Máté Balajti, Ádám Nagy, Kinga Nagy, Angéla Békési, Giampaolo Bianchini, Beáta G. Vértessy y Balázs Győrffy. "Primary Founder Mutations in the PRKDC Gene Increase Tumor Mutation Load in Colorectal Cancer". International Journal of Molecular Sciences 23, n.º 2 (6 de enero de 2022): 633. http://dx.doi.org/10.3390/ijms23020633.
Texto completoAhn, TaeJin y Taesung Park. "Pathway-Driven Discovery of Rare Mutational Impact on Cancer". BioMed Research International 2014 (2014): 1–10. http://dx.doi.org/10.1155/2014/171892.
Texto completoTesis sobre el tema "Les Mutations"
Komp, Lindgren Patricia. "Mutations and Mutation Rate in the Development of Fluoroquinolone Resistance". Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-8275.
Texto completoIbrahim, Daniel Murad. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations". Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://dx.doi.org/10.18452/17102.
Texto completoMutations in transcription factors (TF) do not only affect the function of the TF, but also the expression of its target genes and are frequently underlying congenital malformations. More than 20 distinct pathogenic mutations in HOXD13, a TF controlling limb development, have been associated with a broad range of limb malformations. However, a molecular basis underlying the variability of HOXD13-associated phenotypes remains elusive. To date, the experimental methods used to functionally characters TF mutations have allowed only limited insights into the underlying molecular pathomechanisms. The recently developed ChIP-seq technology has proven to be a powerful method to profile the binding characteristics of TFs; however a number of technical hurdles hinder its application for functional characterization of mutant TFs. This work describes the establishment of a ChIP-seq approach to investigate a wide spectrum of TFs and TF mutations. The approach was applied to characterize two previously unknown missense mutations in HOXD13, p.Q317K and p.R298Q, which both alter the DNA-binding domain of HOXD13 but cause very different disease phenotypes. The results show that the HOXD13Q317K mutant has an altered sequence specificity that resembles the recognition sequence of another TF, PITX1. Further, the genome-wide binding pattern of HOXD13Q317K shifts towards a more PITX1-like binding pattern. Even further analysis and viral overexpression in chicken limb buds confirm that the mutation partially converts HOXD13Q317K into a TF with PITX1-like properties. The HOXD13R298Q has a largely unchanged sequence specificity, but an altered composition of genomic binding sites. This, in combination with the human phenotype, indicates that the mutant might act in a dominant-negative manner. Collectively, this work shows through generation of direct experimental evidence, that clearly distinct molecular mechanisms underlie the pathogenicity of HOXD13Q317K and HOXD13R298Q mutations.
Krasovec, Marc. "Estimation des taux de mutation : implications pour la diversification et l'évolution du phytoplancton eucaryote". Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066371/document.
Texto completoMutations are the main source of diversity on which selection acts to allow species to adapt. Studies of the effect of mutations on survival and estimation of spontaneous mutation rates are essential to better understand evolution. Using mutation accumulation experimental approach, we investigated the issues of mutation effects and mutation rate in five models of green algae (Ostreococcus tauri, O. mediterraneus, Bathycoccus Prasinos, Micromonas pusilla, and Picochlorum RCC4223). It highlighted a decline in fitness over time because of deleterious mutations, and a significant genotype-environment interaction on the fitness effect of mutations. The mutation rate varies at inter-specific and intra-genomic scales, with two main results: a raise of the mutation rate in non-coding regions in accordance with trancriptional-coupled repair, and an increase of the mutation rate with an increase of the genome size in eukaryotes and the GC content deviation from the equilibrium. Also, a new Picochlorum genome is provided to investigate the role of horizontal gene transfer in the Chlorophyta group
Krasovec, Marc. "Estimation des taux de mutation : implications pour la diversification et l'évolution du phytoplancton eucaryote". Electronic Thesis or Diss., Paris 6, 2016. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2016PA066371.pdf.
Texto completoMutations are the main source of diversity on which selection acts to allow species to adapt. Studies of the effect of mutations on survival and estimation of spontaneous mutation rates are essential to better understand evolution. Using mutation accumulation experimental approach, we investigated the issues of mutation effects and mutation rate in five models of green algae (Ostreococcus tauri, O. mediterraneus, Bathycoccus Prasinos, Micromonas pusilla, and Picochlorum RCC4223). It highlighted a decline in fitness over time because of deleterious mutations, and a significant genotype-environment interaction on the fitness effect of mutations. The mutation rate varies at inter-specific and intra-genomic scales, with two main results: a raise of the mutation rate in non-coding regions in accordance with trancriptional-coupled repair, and an increase of the mutation rate with an increase of the genome size in eukaryotes and the GC content deviation from the equilibrium. Also, a new Picochlorum genome is provided to investigate the role of horizontal gene transfer in the Chlorophyta group
Maxwell, Megan Amanda y n/a. "PEX1 Mutations in Australasian Patients with Disorders of Peroxisome Biogenesis". Griffith University. School of Biomolecular and Biomedical Science, 2004. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20040219.100649.
Texto completoMaxwell, Megan Amanda. "PEX1 Mutations in Australasian Patients with Disorders of Peroxisome Biogenesis". Thesis, Griffith University, 2004. http://hdl.handle.net/10072/366184.
Texto completoThesis (PhD Doctorate)
Doctor of Philosophy (PhD)
School of Biomolecular and Biomedical Sciences
Full Text
COCCIADIFERRO, DARIO. "Mutational analysis of Kabuki Syndrome patients and functional dissection of KMT2D mutations". Doctoral thesis, Università di Foggia, 2018. http://hdl.handle.net/11369/369451.
Texto completoDavis, Brad. "Compensatory and deleterious mutations". Thesis, University of British Columbia, 2009. http://hdl.handle.net/2429/7722.
Texto completoBendall, Kate E. "Inheritance of mitochondrial mutations". Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.320141.
Texto completoSalamat, Majid. "Coalescent, recombinaisons et mutations". Thesis, Aix-Marseille 1, 2011. http://www.theses.fr/2011AIX10059.
Texto completoThis thesis is concentrated on some sub jects on population genetics. In the first part we give formulae including the expectation and variance of the height and the length of the ancestral recombination graph (ARG) and the expectation and variance of the number of recombination events and we show that the expectation of the length of the ARG is a linear combination of the expectation of the length of Kingman's coalescent and the expectation of the height of the ARG. Also we show give a relation between the expectation of the ARG and the expectation of the number of recombination events. At the end of this part we show that the ARG comes down from infinity in the sense that we can dfine it with X_0 = ∞, while X_t <∞ ; for all t and we find the speed that the ARG comes down from infinity. In the second part wfind a generalization of the the Ewens sampling formula (GESF) in the presence of recombination for sample of sizes n = 2 and n = 3. In the third part of the thesis we study the ARG along the genome and we we find the distribution of the number of mutations when we have one recombination event in the genealogy of the sample
Libros sobre el tema "Les Mutations"
Thomas, Hugh. Mutations. Toronto: BookThug, 2004.
Buscar texto completoCentre d'études et de recherche sur les civilisations et les littératures européennes (Boulogne-sur-Mer, France) y Université du Littoral Côte d'Opale. Équipe de recherche "HLLI.", eds. Mutations de société, mutations de cinéma. Aachen: Shaker Verlag, 2015.
Buscar texto completoAubin, Denis. Mutations/fluctuations. [Outremont, Québec]: NBJ, 1985.
Buscar texto completoWedge, Martin. Per-mutations. Belfast: Ormeau Baths Gallery, 1997.
Buscar texto completoFrancesco, Casetti, Odin Roger y Centre d'études transdisciplinaires, eds. Télévisions mutations. Paris: Éditions du Seuil [for] Centre d'Études Transdisciplinaires, 1990.
Buscar texto completoCarlos, Pacheco, Townsend Timothy, Hosek Dan, Harris Bob y Atomic Media, eds. X-Men: Mutations. New York: Marvel Comics, 1996.
Buscar texto completoJay, Prosser, ed. Sublime mutations: Photographs. Tübingen: Konkursbuch Verlag, 2000.
Buscar texto completointernational, Institut CEDIMES Colloque, ed. Mutations contemporaines & développement. Paris: CEDIMES, 2003.
Buscar texto completoCastella, Vincenzo, Davis Lynn 1944- y Roberto Pugliese. Recursions and mutations. Cinisello Balsamo, Milano: Silvana editoriale, 2019.
Buscar texto completoCouturier, Stéphane. Stéphane Couturier: Mutations. [Paris]: Bibliothèque nationale de France, 2004.
Buscar texto completoCapítulos de libros sobre el tema "Les Mutations"
Konzak, C. F. "Mutations and Mutation Breeding". En Agronomy Monographs, 428–43. Madison, WI, USA: American Society of Agronomy, Crop Science Society of America, Soil Science Society of America, 2015. http://dx.doi.org/10.2134/agronmonogr13.2ed.c24.
Texto completoSebald, Madeleine. "Mutations". En Brock/Springer Series in Contemporary Bioscience, 64–97. New York, NY: Springer New York, 1993. http://dx.doi.org/10.1007/978-1-4615-7087-5_5.
Texto completoSharma, Dhirendra Kumar. "Mutations". En Encyclopedia of Animal Cognition and Behavior, 4519–24. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-319-55065-7_567.
Texto completoSharma, Dhirendra Kumar. "Mutations". En Encyclopedia of Animal Cognition and Behavior, 1–6. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-47829-6_567-1.
Texto completoBiswas, Nabendu. "Mutations". En Practical GraphQL, 49–75. Berkeley, CA: Apress, 2023. http://dx.doi.org/10.1007/978-1-4842-9621-9_3.
Texto completovan Eyk, Clare L. y Robert I. Richards. "Dynamic Mutations". En Advances in Experimental Medicine and Biology, 55–77. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-5434-2_5.
Texto completoMichaelides, K., R. Schwaab, M. R. A. Lalloz, W. Schmidt, y E. G. D. Tuddenham. "Mutational analysis: new mutations". En PCR2, 255–88. Oxford University PressOxford, 1995. http://dx.doi.org/10.1093/oso/9780199634255.003.0013.
Texto completoNewton, Clive R. "Mutational analysis: known mutations". En PCR2, 219–54. Oxford University PressOxford, 1995. http://dx.doi.org/10.1093/oso/9780199634255.003.0012.
Texto completoLevine, Michael A. y Steven A. Lietman. "Molecular and Clinical Characteristics of the McCune–Albright Syndrome". En Oxford Textbook of Endocrinology and Diabetes 3e, editado por John A. H. Wass, Wiebke Arlt y Robert K. Semple, 1075–88. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198870197.003.0121.
Texto completoJennings, Barbara, Nandu Thalange y Gavin Willis. "Mutations and Genetic Variation". En Genetics in Medicine. Oxford University Press, 2020. http://dx.doi.org/10.1093/hesc/9780198841555.003.0002.
Texto completoActas de conferencias sobre el tema "Les Mutations"
SEPE, MARICHELA. "MEASURING UNCERTAINTY: FACING PLACE MUTATIONS SUSTAINABLY". En SDP 2024, 155–64. Southampton UK: WIT Press, 2024. http://dx.doi.org/10.2495/sdp240131.
Texto completoSouza, Beatriz y Rohit Gheyi. "A Lightweight Technique to Identify Equivalent Mutants". En XI Congresso Brasileiro de Software: Teoria e Prática. Sociedade Brasileira de Computação - SBC, 2020. http://dx.doi.org/10.5753/cbsoft_estendido.2020.14630.
Texto completoCambraia, Amanda, Mario Campos Junior, Fernanda Gubert, Juliana Ferreira Vasques, Marli Pernes da Silva Loureiro, Claudio Heitor Gress, José Mauro Bráz de Lima, Rosalia Mendez Otero y Verônica Marques Zembrzuski. "A novel mutation in the RRM2 domain of TDP-43 in a Brazilian sporadic ALS patient." En XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.486.
Texto completoIliushchenko, D. V., B. E. Efimenko, K. V. Gunbin y K. Y. Popadin. "DEEP MUTATIONAL SPECTRUM OF MITOCHONDRIAL GENOME IN VERTEBRATES AS A NEW TYPE OF SPECIES — SPECIFIC MOLECULAR PHENOTYPE". En OpenBio-2023. ИПЦ НГУ, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-4.
Texto completoMukhopadhyay, Asima, Nicola Curtin y Richard Edmondson. "Evaluation of different methods to assess homologous recombination status and sensitivity to PARP inhibitors in ovarian cancer". En 16th Annual International Conference RGCON. Thieme Medical and Scientific Publishers Private Ltd., 2016. http://dx.doi.org/10.1055/s-0039-1685289.
Texto completoBittencourt, Yuri Cardoso Rodrigues Beckedorff, Lucas Soares Almada, Tatiana Strava Corrêa, Daniele Xavier Assad, Marina Sahade Gonçalves, Andrea Kazumi Shimada, Artur Katz y Romualdo Barroso-Sousa. "SOMATIC MUTATIONAL LANDSCAPE CHARACTERIZATION OF METASTATIC BREAST CANCER IN BRAZIL". En Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2025.
Texto completoBirch, David G., Gabriel H. Travis, Kirsten G. Locke y Donald C. Hood. "Rod Ergs in Mice and Humans with Putative Null Mutations in the RDS Gene". En Vision Science and its Applications. Washington, D.C.: Optica Publishing Group, 1997. http://dx.doi.org/10.1364/vsia.1997.ma.4.
Texto completoAntonarakis, E. "The Molecular Genetics of Hemophilia A Stylianos". En XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643980.
Texto completoHiguchi, M., L. Kochhan, R. Schwaab, H. H. Brackmann, H. Egli y K. Olek. "DETECTION OF MUTATIONS IN HEMOPHILIA A". En XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644012.
Texto completoYoussoufiän, H., A. Patel, D. Phillips, H. H. Kazazian y S. E. Antonarakis. "RECURRENT MUTATIONS AND AN UNUSUAL DELETION IN HEMOPHILIA A". En XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644014.
Texto completoInformes sobre el tema "Les Mutations"
Yang, Mengge y Lin Liao. Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, diciembre de 2022. http://dx.doi.org/10.37766/inplasy2022.12.0031.
Texto completoHenry, Stephen Michael, Mark A. Smith y John P. Eddy. Holistic Portfolio Optimization using Directed Mutations. Office of Scientific and Technical Information (OSTI), febrero de 2016. http://dx.doi.org/10.2172/1618206.
Texto completoYeung, Anthony T. Detection of Mutations Using a Novel Endonuclease. Fort Belvoir, VA: Defense Technical Information Center, junio de 1998. http://dx.doi.org/10.21236/adb238444.
Texto completoDr. Elizabeth Iorns, Dr Elizabeth Iorns. Can we prevent the transmission of BRCA mutations? Experiment, febrero de 2013. http://dx.doi.org/10.18258/0090.
Texto completoLapedes, A. S., B. G. Giraud, L. C. Liu y G. D. Stormo. Correlated mutations in protein sequences: Phylogenetic and structural effects. Office of Scientific and Technical Information (OSTI), diciembre de 1998. http://dx.doi.org/10.2172/296863.
Texto completoBeernink, P., D. Barsky y B. Pesavento. Mutations that Cause Human Disease: A Computational/Experimental Approach. Office of Scientific and Technical Information (OSTI), enero de 2006. http://dx.doi.org/10.2172/898012.
Texto completoGrapes, Laura, Stephen Rudd, Rohan L. Fernando, Karine Megy, Dominique Rocha y Max F. Rothschild. Searching for mutations in pigs using the human genome. Ames (Iowa): Iowa State University, enero de 2005. http://dx.doi.org/10.31274/ans_air-180814-1070.
Texto completoBarkan, A. Transposon-induced nuclear mutations that alter chloroplast gene expression. Office of Scientific and Technical Information (OSTI), enero de 1992. http://dx.doi.org/10.2172/6686800.
Texto completoNelson, Peter S. Global Characterization of Protein-Altering Mutations in Prostate Cancer. Fort Belvoir, VA: Defense Technical Information Center, agosto de 2012. http://dx.doi.org/10.21236/ada568599.
Texto completoSieburth, Derek. Genetic and Molecular Analysis of Suppressors of Ras Mutations. Fort Belvoir, VA: Defense Technical Information Center, octubre de 1997. http://dx.doi.org/10.21236/ada340946.
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