Search Results - "KALTENBACH, Sophie"

Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem Cells by Sole, Anna, Grossetête, Sandrine, Heintzé, Maxime, Babin, Loelia, Zaïdi, Sakina, Revy, Patrick, Renouf, Benjamin, De Cian, Anne, Giovannangeli, Carine, Pierre-Eugène, Cécile, Janoueix-Lerosey, Isabelle, Couronné, Lucile, Kaltenbach, Sophie, Tomishima, Mark, Jasin, Maria, Grünewald, Thomas G P, Delattre, Olivier, Surdez, Didier, Brunet, Erika

“…Ewing sarcoma is characterized by pathognomonic translocations, most frequently fusing with . An estimated 30% of Ewing sarcoma tumors also display genetic…”
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Somatic genetic rescue of a germline ribosome assembly defect by Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick

“…Indirect somatic genetic rescue (SGR) of a germline mutation is thought to be rare in inherited Mendelian disorders. Here, we establish that acquired mutations…”
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A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency by Neven, Bénédicte, Mamessier, Emilie, Bruneau, Julie, Kaltenbach, Sophie, Kotlarz, Daniel, Suarez, Felipe, Masliah-Planchon, Julien, Billot, Katy, Canioni, Danielle, Frange, Pierre, Radford-Weiss, Isabelle, Asnafi, Vahid, Murugan, Dhaarini, Bole, Christine, Nitschke, Patrick, Goulet, Olivier, Casanova, Jean-Laurent, Blanche, Stéphane, Picard, Capucine, Hermine, Olivier, Rieux-Laucat, Frederic, Brousse, Nicole, Davi, Frederic, Baud, Véronique, Klein, Christoph, Nadel, Bertrand, Ruemmele, Frank, Fischer, Alain

“…Monogenic interleukin-10 (IL-10) and IL-10 receptor (IL-10R) deficiencies cause very early onset severe inflammatory bowel disease. Here, we report that 5…”
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Inflammation is predictive of outcome in Waldenström macroglobulinemia treated by Bruton tyrosine kinase inhibitors: a multicentric real-life study by Debureaux, Pierre-Edouard, Forgeard, Nathalie, Elessa, Dikelele, Harel, Stéphanie, Frenzel, Laurent, Royer, Bruno, Talbot, Alexis, Choquet, Sylvain, Davi, Frederic, Nguyen-Khac, Florence, Cuccuini, Wendy, Cheminant, Morgane, Bravetti, Clotilde, Lazarian, Gregory, Kaltenbach, Sophie, Hermine, Olivier, Roos-Weil, Damien, Espéli, Marion, Balabanian, Karl, Arnulf, Bertrand

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TREC mediated oncogenesis in human immature T lymphoid malignancies preferentially involves ZFP36L2 by Balducci, Estelle, Steimlé, Thomas, Smith, Charlotte, Villarese, Patrick, Feroul, Mélanie, Payet-Bornet, Dominique, Kaltenbach, Sophie, Couronné, Lucile, Lhermitte, Ludovic, Touzart, Aurore, Dourthe, Marie-Emilie, Simonin, Mathieu, Baruchel, André, Dombret, Hervé, Ifrah, Norbert, Boissel, Nicolas, Nadel, Bertrand, Macintyre, Elizabeth, Cieslak, Agata, Asnafi, Vahid

“…The reintegration of excised signal joints resulting from human V(D)J recombination was described as a potent source of genomic instability in human lymphoid…”
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Optical genome mapping refines cytogenetic diagnostics, prognostic stratification and provides new molecular insights in adult MDS/AML patients by Balducci, Estelle, Kaltenbach, Sophie, Villarese, Patrick, Duroyon, Eugénie, Zalmai, Loria, Friedrich, Chloé, Suarez, Felipe, Marcais, Ambroise, Bouscary, Didier, Decroocq, Justine, Birsen, Rudy, Fontenay, Michaëla, Templé, Marie, Brouzes, Chantal, Touzart, Aurore, Steimlé, Thomas, Cieslak, Agata, Lhermitte, Ludovic, Almire, Carole, Chapuis, Nicolas, Hermine, Olivier, Asnafi, Vahid, Kosmider, Olivier, Couronné, Lucile

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Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect by Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick

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T-cell large granular lymphocyte leukemia transfomation into aggressive T-cell lymphoma: a report of two cases with molecular characterization by Belhadj, Maya, Mansour, Dalila, Kaltenbach, Sophie, Deau-Fischer, Benedicte, Franchi, Patricia, Tamburini, Jérôme, Chapuis, Nicolas, Damotte, Diane, Kosmider, Olivier, Burroni, Barbara, Bouscary, Didier

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Venetoclax combination therapy induces deep AML remission with eradication of leukemic stem cells and remodeling of clonal haematopoiesis by Vazquez, Romain, Breal, Claire, Zalmai, Loria, Friedrich, Chloe, Almire, Carole, Contejean, Adrien, Barreau, Sylvain, Grignano, Eric, Willems, Lise, Deau-Fischer, Benedicte, Franchi, Patricia, Vignon, Marguerite, Decroocq, Justine, Birsen, Rudy, Goldwirt, Lauriane, Kaltenbach, Sophie, Couronne, Lucile, Fontenay, Michaela, Kosmider, Olivier, Bouscary, Didier, Chapuis, Nicolas

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Targeted therapy for capillary-venous malformations by Zerbib, Lola, Ladraa, Sophia, Fraissenon, Antoine, Bayard, Charles, Firpion, Marina, Venot, Quitterie, Protic, Sanela, Hoguin, Clément, Thomas, Amandine, Fraitag, Sylvie, Duong, Jean-Paul, Kaltenbach, Sophie, Balducci, Estelle, Lefevre, Coline, Villarese, Patrick, Asnafi, Vahid, Broissand, Christine, Goudin, Nicolas, Nemazanyy, Ivan, Autret, Gwennhael, Tavitian, Bertrand, Legendre, Christophe, Arzouk, Nadia, Minard-Colin, Veronique, Chopinet, Caroline, Dussiot, Michael, Adams, Denise M., Mirault, Tristan, Guibaud, Laurent, Isenring, Paul, Canaud, Guillaume

“…Sporadic venous malformations are genetic conditions primarily caused by somatic gain-of-function mutation of PIK3CA or TEK , an endothelial transmembrane…”
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P1166: BRIGATINIB IN PATIENTS WITH ALK‐POSITIVE ANAPLASTIC LARGE CELL LYMPHOMA WHO HAVE FAILED BRENTUXIMAB VEDOTIN by Veleanu, Layla, Tesson, Bruno, Lamant, Laurence, Marçais, Ambroise, Bruneau, Julie, Kaltenbach, Sophie, Brouzes, Chantal, Degoutte, Charlotte, Moraly, Josquin, Villarese, Patrick, Lhermitte, Ludovic, Latiri, Mehdi, Hure, Gregoire, Chauchet, Adrien, Delette, Caroline, Grosleron, Sylvie, Toussaint, Elise, Cabrera, Quentin, Brice, Pauline, Gros, Francois‐Xavier, Clavert, Aline, Oberic, Lucie, Legoff, Marielle, Cereja, Sophie, Meggetto, Fabienne, Macintyre, Elizabeth, Asnafi, Vahid, Sibon, David

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NUP98-MLL fusion in human acute myeloblastic leukemia by Kaltenbach, Sophie, Soler, Gwendoline, Barin, Carole, Gervais, Carine, Bernard, Olivier A., Penard-Lacronique, Virginie, Romana, Serge P.

“…Posttranscriptional modifications of histones play important roles in the control of chromatin structure and transcription. H3K4 (histone H3 lysine 4)…”
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Targeted High‐throughput Sequencing for Hematological Malignancies: A GBMHM Survey of Practice and Cost Evaluation in France by Darlington, Meryl, Sujobert, Pierre, Kosmider, Olivier, Luque Paz, Damien, Kaltenbach, Sophie, Figeac, Martin, Hayette, Sandrine, Mezaour, Nadia, Coquerelle, Séverine, Alary, Anne‐Sophie, Bidet, Audrey, Le Bris, Yannick, Delabesse, Eric, Davi, Frédéric, Preudhomme, Claude, Durand‐Zaleski, Isabelle, Macintyre, Elizabeth, Alame, Mélissa, Baran‐Marzak, Fanny, Berger, Marc G., Bories, Dominique, Caye‐Eude, Aurélie, Cayuela, Jean‐Michel, Cornillet‐Lefebvre, Pascale, Delhommeau, François, Estienne‐Felix, Marie‐Hélène, Etancelin, Pascaline, Flandrin‐Gresta, Pascale, Lippert, Eric, Marzac, Christophe, Miguet, Laurent, Pastoret, Cédric, Raynaud, Sophie, Rizzo, David

“…The objective of this study was to assess the clinical impact and financial costs of next‐generation sequencing (NGS) in 5 categories of pediatric and adult…”
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Identification of TP53 aberrations in chronic lymphocytic leukaemia using different molecular diagnostic techniques by Za, Kyaw Tay, Kaltenbach, Sophie

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Biological diagnosis of mature B cell malignancies by Kaltenbach, Sophie, Lhermitte, Ludovic

“…Diagnosis of mature B cell malignancies is highly multidisciplinary. Biological tools provide diagnostic, prognostic and theranostic information. Biological…”
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PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments by Morin, Gabriel M, Zerbib, Lola, Kaltenbach, Sophie, Fraissenon, Antoine, Balducci, Estelle, Asnafi, Vahid, Canaud, Guillaume

“…Recent advances in genetic sequencing are transforming our approach to rare-disease care. Initially identified in cancer, gain-of-function mutations of the…”
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Identification of TP53 aberrations in chronic lymphocytic leukaemia using different molecular diagnostic techniques by Za, Kyaw Tay, Kaltenbach, Sophie, Shanmugam, Hemalatha

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Alpelisib administration reduced lymphatic malformations in a mouse model and in patients by Delestre, Florence, Venot, Quitterie, Bayard, Charles, Fraissenon, Antoine, Ladraa, Sophia, Hoguin, Clément, Chapelle, Célia, Yamaguchi, Junna, Cassaca, Rubina, Zerbib, Lola, Magassa, Sato, Morin, Gabriel, Asnafi, Vahid, Villarese, Patrick, Kaltenbach, Sophie, Fraitag, Sylvie, Duong, Jean-Paul, Broissand, Christine, Boccara, Olivia, Soupre, Véronique, Bonnotte, Bernard, Chopinet, Caroline, Mirault, Tristan, Legendre, Christophe, Guibaud, Laurent, Canaud, Guillaume

“…Lymphatic cystic malformations are rare genetic disorders mainly due to somatic gain-of-function mutations in the gene. These anomalies are frequently…”
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Caution encouraged in next-generation sequencing immunogenetic analyses in acute lymphoblastic leukemia by Abdo, Chrystelle, Thonier, Florian, Simonin, Mathieu, Kaltenbach, Sophie, Valduga, Julie, Petit, Arnaud, Brüggemann, Monika, Macintyre, Elizabeth

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RCHOP Plus High-Dose Methotrexate As First-Line Therapy in Large B-Cell Lymphoma with Testis Involvement by Liévin, Raphaël, Burroni, Barbara, Palmic, Patricia, Balducci, Estelle, Decroocq, Justine, Deau Fischer, Benedicte, Franchi, Patricia, Vignon, Marguerite, Zerbit, Jérémie, Cottereau, Anne Ségolène, Kaltenbach, Sophie, Lhermitte, Ludovic, Bouscary, Didier, Willems, Lise

“…Primary testicular lymphoma (PTL) and diffuse large B-cell lymphoma with secondary testicular involvement (DLBCL-T) are rare subtypes of lymphomas associated…”
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