Kết quả tìm kiếm - Desvignes, Jean-Pierre
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Uncoupling of Molecular Maturation from Peripheral Target Innervation in Nociceptors Expressing a Chimeric TrkA/TrkC Receptor Bằng Gorokhova, Svetlana, Gaillard, Stéphane, Urien, Louise, Malapert, Pascale, Legha, Wassim, Baronian, Grégory, Desvignes, Jean-Pierre, Alonso, Serge, Moqrich, Aziz
Được phát hành 2014Text -
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A Genetic Screen for Functional Partners of Condensin in Fission Yeast Bằng Robellet, Xavier, Fauque, Lydia, Legros, Pénélope, Mollereau, Esther, Janczarski, Stéphane, Parrinello, Hugues, Desvignes, Jean-Pierre, Thevenin, Morgane, Bernard, Pascal
Được phát hành 2013Text -
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Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders Bằng Gorokhova, Svetlana, Cerino, Mathieu, Mathieu, Yves, Courrier, Sébastien, Desvignes, Jean-Pierre, Salgado, David, Béroud, Christophe, Krahn, Martin, Bartoli, Marc
Được phát hành 2015Text -
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Ecto- and endoparasite induce similar chemical and brain neurogenomic responses in the honey bee (Apis mellifera) Bằng McDonnell, Cynthia M, Alaux, Cédric, Parrinello, Hugues, Desvignes, Jean-Pierre, Crauser, Didier, Durbesson, Emma, Beslay, Dominique, Le Conte, Yves
Được phát hành 2013Text -
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UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution Bằng Salgado, David, Desvignes, Jean‐Pierre, Rai, Ghadi, Blanchard, Arnaud, Miltgen, Morgane, Pinard, Amélie, Lévy, Nicolas, Collod‐Béroud, Gwenaëlle, Béroud, Christophe
Được phát hành 2016Text -
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AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) Bằng Cacciagli, Pierre, Desvignes, Jean-Pierre, Girard, Nadine, Delepine, Marc, Zelenika, Diana, Lathrop, Mark, Lévy, Nicolas, Ledbetter, David H, Dobyns, William B, Villard, Laurent
Được phát hành 2014Text -
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In-Cell Intrabody Selection from a Diverse Human Library Identifies C12orf4 Protein as a New Player in Rodent Mast Cell Degranulation Bằng Mazuc, Elsa, Guglielmi, Laurence, Bec, Nicole, Parez, Vincent, Hahn, Chang S., Mollevi, Caroline, Parrinello, Hugues, Desvignes, Jean-Pierre, Larroque, Christian, Jupp, Ray, Dariavach, Piona, Martineau, Pierre
Được phát hành 2014Text -
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Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men Bằng Auguste, Yasmina, Delague, Valérie, Desvignes, Jean-Pierre, Longepied, Guy, Gnisci, Audrey, Besnier, Pierre, Levy, Nicolas, Beroud, Christophe, Megarbane, André, Metzler-Guillemain, Catherine, Mitchell, Michael J.
Được phát hành 2018Text -
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Essential requirement for β-arrestin2 in mouse intestinal tumors with elevated Wnt signaling Bằng Bonnans, Caroline, Flacelière, Maud, Grillet, Fanny, Dantec, Christelle, Desvignes, Jean-Pierre, Pannequin, Julie, Severac, Dany, Dubois, Emeric, Bibeau, Frédéric, Escriou, Virginie, Crespy, Philippe, Journot, Laurent, Hollande, Frédéric, Joubert, Dominique
Được phát hành 2012Text -
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The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia Bằng Mehawej, Cybel, Delahodde, Agnès, Legeai-Mallet, Laurence, Delague, Valérie, Kaci, Nabil, Desvignes, Jean-Pierre, Kibar, Zoha, Capo-Chichi, José-Mario, Chouery, Eliane, Munnich, Arnold, Cormier-Daire, Valérie, Mégarbané, André
Được phát hành 2014Text -
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Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome Bằng Mégarbané, André, Hana, Sayeeda, Mégarbané, Hala, Castro, Christel, Baulande, Sylvain, Criqui, Audrey, Roëckel-Trevisiol, Nathalie, Dagher, Christel, Al-Ali, Mahmoud Taleb, Desvignes, Jean-Pierre, Mahfoud, Daniel, El-Hayek, Stephany, Delague, Valérie
Được phát hành 2021Text -
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Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome Bằng Ghedira, Nehla, Lagarde, Arnaud, Ben Ameur, Karim, Elouej, Sahar, Sakka, Rania, Kerkeni, Emna, Chioukh, Fatma-Zohra, Olschwang, Sylviane, Desvignes, Jean-Pierre, Abdelhak, Sonia, Delague, Valerie, Lévy, Nicolas, Monastiri, Kamel, De Sandre-Giovannoli, Annachiara
Được phát hành 2018Text -
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Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation Bằng Bacquet, Juliette, Stojkovic, Tanya, Boyer, Amandine, Martini, Nathalie, Audic, Frédérique, Chabrol, Brigitte, Salort-Campana, Emmanuelle, Delmont, Emilien, Desvignes, Jean-Pierre, Verschueren, Annie, Attarian, Shahram, Chaussenot, Annabelle, Delague, Valérie, Levy, Nicolas, Bonello-Palot, Nathalie
Được phát hành 2018Text -
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Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus Bằng Cacciagli, Pierre, Sutera-Sardo, Julie, Borges-Correia, Ana, Roux, Jean-Christophe, Dorboz, Imen, Desvignes, Jean-Pierre, Badens, Catherine, Delepine, Marc, Lathrop, Mark, Cau, Pierre, Lévy, Nicolas, Girard, Nadine, Sarda, Pierre, Boespflug-Tanguy, Odile, Villard, Laurent
Được phát hành 2013Text -
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Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation Bằng Stefanovic, Sonia, Laforest, Brigitte, Desvignes, Jean-Pierre, Lescroart, Fabienne, Argiro, Laurent, Maurel-Zaffran, Corinne, Salgado, David, Plaindoux, Elise, De Bono, Christopher, Pazur, Kristijan, Théveniau-Ruissy, Magali, Béroud, Christophe, Puceat, Michel, Gavalas, Anthony, Kelly, Robert G, Zaffran, Stephane
Được phát hành 2020Text -
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Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma Bằng Jallades, Laurent, Baseggio, Lucile, Sujobert, Pierre, Huet, Sarah, Chabane, Kaddour, Callet-Bauchu, Evelyne, Verney, Aurélie, Hayette, Sandrine, Desvignes, Jean-Pierre, Salgado, David, Levy, Nicolas, Béroud, Christophe, Felman, Pascale, Berger, Françoise, Magaud, Jean-Pierre, Genestier, Laurent, Salles, Gilles, Traverse-Glehen, Alexandra
Được phát hành 2017Text -
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The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD Bằng Gargaun, Elena, Falcone, Sestina, Solé, Guilhem, Durigneux, Julien, Urtizberea, Andoni, Cuisset, Jean Marie, Benkhelifa-Ziyyat, Sofia, Julien, Laura, Boland, Anne, Sandron, Florian, Meyer, Vincent, Deleuze, Jean François, Salgado, David, Desvignes, Jean-Pierre, Béroud, Christophe, Chessel, Anatole, Blesius, Alexia, Krahn, Martin, Levy, Nicolas, Leturcq, France, Pietri-Rouxel, France
Được phát hành 2021Text -
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The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population Bằng Jalkh, Nadine, Corbani, Sandra, Haidar, Zahraa, Hamdan, Nadine, Farah, Elias, Abou Ghoch, Joelle, Ghosn, Rouba, Salem, Nabiha, Fawaz, Ali, Djambas Khayat, Claudia, Rajab, Mariam, Mourani, Chebl, Moukarzel, Adib, Rassi, Simon, Gerbaka, Bernard, Mansour, Hicham, Baassiri, Malek, Dagher, Rawane, Breich, David, Mégarbané, André, Desvignes, Jean Pierre, Delague, Valérie, Mehawej, Cybel, Chouery, Eliane
Được phát hành 2019Text -
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Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis Bằng Neri, Tui, Hiriart, Emilye, van Vliet, Patrick P., Faure, Emilie, Norris, Russell A., Farhat, Batoul, Jagla, Bernd, Lefrancois, Julie, Sugi, Yukiko, Moore-Morris, Thomas, Zaffran, Stéphane, Faustino, Randolph S., Zambon, Alexander C., Desvignes, Jean-Pierre, Salgado, David, Levine, Robert A., de la Pompa, Jose Luis, Terzic, André, Evans, Sylvia M., Markwald, Roger, Pucéat, Michel
Được phát hành 2019Text