Rezultaty - Desvignes, Jean‐Pierre

VarAFT: a variant annotation and filtration system for human next generation sequencing data od Desvignes, Jean-Pierre, Bartoli, Marc, Delague, Valérie, Krahn, Martin, Miltgen, Morgane, Béroud, Christophe, Salgado, David

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Uncoupling of Molecular Maturation from Peripheral Target Innervation in Nociceptors Expressing a Chimeric TrkA/TrkC Receptor od Gorokhova, Svetlana, Gaillard, Stéphane, Urien, Louise, Malapert, Pascale, Legha, Wassim, Baronian, Grégory, Desvignes, Jean-Pierre, Alonso, Serge, Moqrich, Aziz

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A Genetic Screen for Functional Partners of Condensin in Fission Yeast od Robellet, Xavier, Fauque, Lydia, Legros, Pénélope, Mollereau, Esther, Janczarski, Stéphane, Parrinello, Hugues, Desvignes, Jean-Pierre, Thevenin, Morgane, Bernard, Pascal

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Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders od Gorokhova, Svetlana, Cerino, Mathieu, Mathieu, Yves, Courrier, Sébastien, Desvignes, Jean-Pierre, Salgado, David, Béroud, Christophe, Krahn, Martin, Bartoli, Marc

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Ecto- and endoparasite induce similar chemical and brain neurogenomic responses in the honey bee (Apis mellifera) od McDonnell, Cynthia M, Alaux, Cédric, Parrinello, Hugues, Desvignes, Jean-Pierre, Crauser, Didier, Durbesson, Emma, Beslay, Dominique, Le Conte, Yves

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UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution od Salgado, David, Desvignes, Jean‐Pierre, Rai, Ghadi, Blanchard, Arnaud, Miltgen, Morgane, Pinard, Amélie, Lévy, Nicolas, Collod‐Béroud, Gwenaëlle, Béroud, Christophe

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AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) od Cacciagli, Pierre, Desvignes, Jean-Pierre, Girard, Nadine, Delepine, Marc, Zelenika, Diana, Lathrop, Mark, Lévy, Nicolas, Ledbetter, David H, Dobyns, William B, Villard, Laurent

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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 od 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

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Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men od 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.

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Essential requirement for β-arrestin2 in mouse intestinal tumors with elevated Wnt signaling od 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

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The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia od 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

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Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome od 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

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Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome od 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

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Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation od 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

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Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus od 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

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Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation od 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

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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 od 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

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The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD od 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

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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 od 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

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Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis od 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

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