Výsledky vyhledávání - Pasmant, Eric

Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View Autor Pasmant, Eric, Vidaud, Dominique

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RAS-MAPK pathway epigenetic activation in cancer: miRNAs in action Autor Masliah-Planchon, Julien, Garinet, Simon, Pasmant, Eric

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COVID-19: Discovery, diagnostics and drug development Autor Asselah, Tarik, Durantel, David, Pasmant, Eric, Lau, George, Schinazi, Raymond F.

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Chaperoning 5S RNA assembly Autor Madru, Clément, Lebaron, Simon, Blaud, Magali, Delbos, Lila, Pipoli, Juliana, Pasmant, Eric, Réty, Stéphane, Leulliot, Nicolas

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McCune Albright syndrome is a genetic predisposition to intraductal papillary and mucinous neoplasms of the pancreas associated pancreatic cancer in relation with GNAS somatic muta... Autor Gaujoux, Sébastien, Pasmant, Eric, Silve, Caroline, Mehsen-Cetre, Nadia, Coriat, Romain, Rouquette, Alexandre, Douset, Bertrand, Prat, Frédéric, Leroy, Karen

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Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities Autor Gilbert-Dussardier, Brigitte, Briand-Suleau, Audrey, Laurendeau, Ingrid, Bilan, Frédéric, Cavé, Hélène, Verloes, Alain, Vidaud, Michel, Vidaud, Dominique, Pasmant, Eric

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Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and revie... Autor Aubert-Mucca, Marion, Dubucs, Charlotte, Groussolles, Marion, Vial, Julie, Le Guillou, Edouard, Porquet-Bordes, Valerie, Pasmant, Eric, Salles, Jean-Pierre, Edouard, Thomas

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Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1 Autor Sabbagh, Audrey, Pasmant, Eric, Laurendeau, Ingrid, Parfait, Béatrice, Barbarot, Sébastien, Guillot, Bernard, Combemale, Patrick, Ferkal, Salah, Vidaud, Michel, Aubourg, Patrick, Vidaud, Dominique, Wolkenstein, Pierre

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Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells Autor Varin, Jennifer, Poulain, Laury, Hivelin, Mikael, Nusbaum, Patrick, Hubas, Arnaud, Laurendeau, Ingrid, Lantieri, Laurent, Wolkenstein, Pierre, Vidaud, Michel, Pasmant, Eric, Chapuis, Nicolas, Parfait, Béatrice

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Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? Autor Pasmant, Eric, Parfait, Béatrice, Luscan, Armelle, Goussard, Philippe, Briand-Suleau, Audrey, Laurendeau, Ingrid, Fouveaut, Corinne, Leroy, Chrystel, Montadert, Annelore, Wolkenstein, Pierre, Vidaud, Michel, Vidaud, Dominique

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Detection and Characterization of NF1 Microdeletions by Custom High Resolution Array CGH Autor Pasmant, Eric, Sabbagh, Audrey, Masliah-Planchon, Julien, Haddad, Véronique, Hamel, Marie-José, Laurendeau, Ingrid, Soulier, Jean, Parfait, Béatrice, Wolkenstein, Pierre, Bièche, Ivan, Vidaud, Michel, Vidaud, Dominique

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Identification of Genes Potentially Involved in the Increased Risk of Malignancy in NF1-Microdeleted Patients Autor Pasmant, Eric, Masliah-Planchon, Julien, Lévy, Pascale, Laurendeau, Ingrid, Ortonne, Nicolas, Parfait, Béatrice, Valeyrie-Allanore, Laurence, Leroy, Karen, Wolkenstein, Pierre, Vidaud, Michel, Vidaud, Dominique, Bièche, Ivan

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Phosphorylation of Merlin by Aurora A kinase appears necessary for mitotic progression Autor Mandati, Vinay, Del Maestro, Laurence, Dingli, Florent, Lombard, Bérangère, Loew, Damarys, Molinie, Nicolas, Romero, Stephane, Bouvard, Daniel, Louvard, Daniel, Gautreau, Alexis M., Pasmant, Eric, Lallemand, Dominique

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BRAF inhibitor resistance of melanoma cells triggers increased susceptibility to natural killer cell-mediated lysis Autor Frazao, Alexandra, Rethacker, Louise, Jeudy, Géraldine, Colombo, Marina, Pasmant, Eric, Avril, Marie-Françoise, Toubert, Antoine, Moins-Teisserenc, Helene, Roelens, Marie, Dalac, Sophie, Maubec, Eve, Caignard, Anne

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First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis Autor Pasmant, Eric, Goussard, Philippe, Baranes, Laetitia, Laurendeau, Ingrid, Quentin, Samuel, Ponsot, Philippe, Consigny, Yann, Farges, Olivier, Condat, Bertrand, Vidaud, Dominique, Vidaud, Michel, Chen, Jian-Min, Parfait, Béatrice

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NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentation Autor Lobón-Iglesias, María Jesús, Laurendeau, Ingrid, Guerrini-Rousseau, Léa, Tauziède-Espariat, Arnault, Briand-Suleau, Audrey, Varlet, Pascale, Vidaud, Dominique, Vidaud, Michel, Brugieres, Laurence, Grill, Jacques, Pasmant, Eric

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Prognostic value of a newly identified MALAT1 alternatively spliced transcript in breast cancer Autor Meseure, Didier, Vacher, Sophie, Lallemand, François, Alsibai, Kinan Drak, Hatem, Rana, Chemlali, Walid, Nicolas, Andre, De Koning, Leanne, Pasmant, Eric, Callens, Celine, Lidereau, Rosette, Morillon, Antonin, Bieche, Ivan

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Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis Autor Louvrier, Camille, Pasmant, Eric, Briand-Suleau, Audrey, Cohen, Joëlle, Nitschké, Patrick, Nectoux, Juliette, Orhant, Lucie, Zordan, Cécile, Goizet, Cyril, Goutagny, Stéphane, Lallemand, Dominique, Vidaud, Michel, Vidaud, Dominique, Kalamarides, Michel, Parfait, Béatrice

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The NRF2 transcriptional target NQO1 has low mRNA levels in TP53-mutated endometrial carcinomas Autor Beinse, Guillaume, Just, Pierre-Alexandre, Rance, Bastien, Izac, Brigitte, Letourneur, Franck, Saidu, Nathaniel Edward Bennett, Chouzenoux, Sandrine, Nicco, Carole, Goldwasser, François, Pasmant, Eric, Batteux, Frederic, Borghese, Bruno, Alexandre, Jérôme, Leroy, Karen

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High Positive Correlations between ANRIL and p16-CDKN2A/p15-CDKN2B/p14-ARF Gene Cluster Overexpression in Multi-Tumor Types Suggest Deregulated Activation of an ANRIL–ARF Bidirecti... Autor Drak Alsibai, Kinan, Vacher, Sophie, Meseure, Didier, Nicolas, Andre, Lae, Marick, Schnitzler, Anne, Chemlali, Walid, Cros, Jerome, Longchampt, Elisabeth, Cacheux, Wulfran, Pignot, Geraldine, Callens, Celine, Pasmant, Eric, Allory, Yves, Bieche, Ivan

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