检索结果 - Pasmant, Eric

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

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

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

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Chaperoning 5S RNA assembly 由 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... 由 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 由 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... 由 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 由 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 由 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? 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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... 由 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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