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Showing results 7161 to 7180 on 8570 in total
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Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia
Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Rivière, Jean-Christophe Saurin, Mélanie Eyries, Sylvie Patri, Evelyne Decullier, Alain Calender, Gaëtan Lesca
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Comparison of Nucleic Acid Extraction Methods for a Viral Metagenomics Analysis of Respiratory Viruses
Marina Sabatier, Antonin Bal, Grégory Destras, Hadrien Regue, Grégory Quéromès, Valérie Cheynet, Bruno Lina, Claire Bardel, Karen Brengel-Pesce, Vincent Navratil, Laurence Josset
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Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia
Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Riviere, Jean-Christophe Saurin, Mélanie Eyries, Sylvie Patri, Evelyne Decullier, Alain Calender, Gaëtan Lesca
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Impact of interleukin‐6 on drug transporters and permeability in the hCMEC/D3 blood–brain barrier model
Florian Simon, Laetitia Guyot, Jessica Garcia, Gaelle Vilchez, Claire Bardel, Marylore Chenel, Michel Tod, Léa Payen
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Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia
Oriane Marmontel, Pierre Antoine Rollat-Farnier, Anne‐sophie Wozny, Sybil Charrière, Xavier Vanhoye, Thomas Simonet, Nicolas Chatron, Delphine Collin-Chavagnac, Séverine Nony, Sabrina Dumont, Muriel Mahl, Chantal Jacobs, Alexandre Janin, Cyrielle Caussy, Pierre Poinsot, Igor Tauveron, Claire Bardel, Gilles Millat, Noël Peretti, Philippe Moulin, Christophe Marçais, Mathilde Di Filippo
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The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
N. Chatron, G. Giannuzzi, P. Rollat-Farnier, F. Diguet, E. Porcu, T. Yammine, K. Uguen, Z. Bellil, J. Lauer Zillhardt, A. Sorlin, F. Ader, A. Afenjar, J. Andrieux, Claire Bardel, E. Calpena, S. Chantot-Bastaraud, P. Callier, N. Chelloug, E. Chopin, M. Cordier, C. Dubourg, L. Faivre, F. Girard, S. Heide, Y. Herenger, S. Jaillard, B. Keren, S. J. L. Knight, J. Lespinasse, L. Lohmann, N. Marle, R. Maroofian, Alice Masurel-Paulet, M. Mathieu-Dramard, C. Metay, A. T. Pagnamenta, M. Portnoi, F. Prieur, M. Rio, J. Siffroi, S. Valence, J. C. Taylor, A. O. M. Wilkie, P. Edery, A. Reymond, D. Sanlaville, C. Schluth-Bolard
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Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean‐michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre‐antoine Rollat-Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tisserant, Frédéric Tran Mau-Them, Vincent Danjean, Marc Delepine, Marianne Till, Vincent Meyer, Stanislas Lyonnet, Anne‐laure Mosca-Boidron, Julien Thevenon, Laurence Faivre, Christel Thauvin-Robinet, Caroline Schluth-Bolard, Anne Boland, Robert Olaso, Patrick Callier, Serge Romana, Jean‐françois Deleuze, Damien Sanlaville
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In vivo characterisation of the toxicological properties of DPhP, one of the main degradation products of aryl phosphate esters
Samia Selmi-Ruby, Jesús Marín-Sáez, Aurélie Fildier, Audrey Buleté, Myriam Abdallah, Jessica Garcia, Julie Deverchère, Loïc Spinner, Barbara Giroud, Sébastien Ibanez, Thierry Granjon, Claire Bardel, Alain Puisieux, Béatrice Fervers, Emmanuelle Vulliet, Léa Payen, Arnaud Vigneron
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Impact of Interleukin-6 on Drug-Metabolizing Enzymes and Transporters in Intestinal Cells
Florian Simon, Jessica Garcia, Laetitia Guyot, Jérôme Guitton, Gaelle Vilchez, Claire Bardel, Marylore Chenel, Michel Tod, Léa Payen
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Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy
Alexandre Janin, Valérie Chanavat, Pierre‐antoine Rollat-Farnier, Claire Bardel, Karine Nguyen, Philippe Chevalier, Jean‐christophe Eicher, Laurence Faivre, Juliette Piard, Emma Albert, Severine Nony, Gilles Millat
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Structure-activity relationship study: Mechanism of cyto-genotoxicity of Nitropyrazole-derived high energy density materials family
Laetitia Guyot, Florian Simon, Jessica Garcia, Floriane Vanhalle, Gaelle Vilchez, Claire Bardel, Brigitte Manship, Alain Puisieux, Christelle Machon, Guy Jacob, Jérôme Guitton, Léa Payen
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Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis
Nicolas Chatron, Kevin Cassinari, Olivier Quenez, Stéphanie Baert‐desurmont, Claire Bardel, Marie‐pierre Buisine, Eduardo Calpena, Yline Capri, Jordi Corominas Galbany, Flavie Diguet, Patrick Edery, Bertrand Isidor, Audrey Labalme, Cedric Le Caignec, Jonathan Levy, François Lecoquierre, Pierre Lindenbaum, Olivier Pichon, Pierre‐antoine Rollat‐farnier, Thomas Simonet, Pascale Saugier‐veber, Anne‐claude Tabet, Annick Toutain, Andrew Wilkie, Gaetan Lesca, Damien Sanlaville, Gaël Nicolas, Caroline Schluth‐bolard
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Toxicokinetics and tolerance of a high energy material 3,4,5-trinitropyrazole (TNP) in mice
Laetitia Guyot, Myléne Honorat, Guy Jacob, Claire Bardel, Michel Tod, Alain Puisieux, Jérôme Guitton, Léa Payen
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Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy
Oriane Marmontel, Sybil Charriere, T. Simonet, V. Bonnet, S. Dumont, M. Mahl, C. Jacobs, S. Nony, K. Chabane, D. Bozon, A. Janin, Noël Peretti, A. Lachaux, C. Bardel, G. Millat, P. Moulin, Christophe Marcais, Mathilde Di Filippo
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Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy
O. Marmontel, S. Charrière, T. Simonet, V. Bonnet, S. Dumont, M. Mahl, C. Jacobs, S. Nony, K. Chabane, D. Bozon, A. Janin, N. Peretti, A. Lachaux, Claire Bardel, G. Millat, P. Moulin, C. Marçais, M. Di Filippo
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Cross-platform comparison for the detection of RAS mutations in cfDNA (ddPCR Biorad detection assay, BEAMing assay, and NGS strategy)
Jessica Garcia, Julien Forestier, Eric Dusserre, Anne-Sophie Wozny, Florence Geiguer, Patrick Merle, Claire Tissot, Carole Ferraro-Peyret, Frederick Jones, Daniel Edelstein, Valérie Cheynet, Claire Bardel, Gaelle Vilchez, Zhenyu Xu, Pierre Paul Bringuier, Marc Barritault, Karen Brengle-Pesce, Marielle Guillet, Marion Chauvenet, Brigitte Manship, Marie Brevet, Claire Rodriguez-Lafrasse, Valérie Hervieu, Sébastien Couraud, Thomas Walter, Léa Payen
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What Does This Mutation Mean? The Tools and Pitfalls of Variant Interpretation in Lymphoid Malignancies
Yann Guillermin, Jonathan Lopez, Kaddour Chabane, Sandrine Hayette, Claire Bardel, Gilles Salles, Pierre Sujobert, Sarah Huet
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Centralization errors in comparative genomic hybridization array analysis of pituitary tumor samples
Hélène Lasolle, Eudeline Alix, Clément Bonnefille, Mad‐hélénie Elsensohn, Jessica Michel, Damien Sanlaville, Pascal Roy, Gérald Raverot, Claire Bardel
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A genetic landscape of familial predisposition to sarcoidosis identified by whole exome sequencing
Alain Calender, Yves Pacheco, Pierre Antoine Rollat Farnier, Claire Bardel, Pascal Sève, Gilles Devouassoux, Vincent Cottin, Abderrazzaq Bentaher, Jean-François Bernaudin, Dominique Valeyre, Nadia Nathan
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CSF IgA NMDAR antibodies are potential biomarkers for teratomas in anti-NMDAR encephalitis
V. Desestret, A. Chefdeville, A. Viaccoz, C. Bost, F. Ducray, G. Picard, V. Rogemond, M. O. Chaffois, C. Blanc, Claire Bardel, I. Treilleux, O. Pascual, J. C. Antoine, J. Y. Delattre, J. Honnorat