Search Results - "Cavé, Helene"

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations by Beltrand, Jacques, Elie, Caroline, Busiah, Kanetee, Fournier, Emmanuel, Boddaert, Nathalie, Bahi-Buisson, Nadia, Vera, Miriam, Bui-Quoc, Emmanuel, Ingster-Moati, Isabelle, Berdugo, Marianne, Simon, Albane, Gozalo, Claire, Djerada, Zoubir, Flechtner, Isabelle, Treluyer, Jean-Marc, Scharfmann, Raphael, Cavé, Helene, Vaivre-Douret, Laurence, Polak, Michel

“…Neonatal diabetes secondary to mutations in potassium-channel subunits is a rare disease but constitutes a paradigm for personalized genetics-based medicine,…”
Get full text

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis by Dentici, Maria Lisa, Niceta, Marcello, Lepri, Francesca Romana, Mancini, Cecilia, Priolo, Manuela, Bonnard, Adeline Alice, Cappelletti, Camilla, Leoni, Chiara, Ciolfi, Andrea, Pizzi, Simone, Cordeddu, Viviana, Rossi, Cesare, Ferilli, Marco, Mucciolo, Mafalda, Colona, Vito Luigi, Fauth, Christine, Bellini, Melissa, Biasucci, Giacomo, Sinibaldi, Lorenzo, Briuglia, Silvana, Gazzin, Andrea, Carli, Diana, Memo, Luigi, Trevisson, Eva, Schiavariello, Concetta, Luca, Maria, Novelli, Antonio, Michot, Caroline, Sweertvaegher, Anne, Germanaud, David, Scarano, Emanuela, De Luca, Alessandro, Zampino, Giuseppe, Zenker, Martin, Mussa, Alessandro, Dallapiccola, Bruno, Cavé, Helene, Digilio, Maria Cristina, Tartaglia, Marco

“…Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK…”
Get full text

Clinical characteristics, growth patterns, and long‐term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience by Mouler, Marie, Lebenthal, Yael, Vries, Liat, Yackobovitch‐Gavan, Michal, Averbuch, Noa Shefer, Fauret‐Amsellem, Anne Laure, Cavé, Helene, Beltrand, Jacques, Polak, Michel, Phillip, Moshe, Nimri, Revital

“…Objectives Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes, diagnosed before age 6 months. We aimed to describe the clinical…”
Get full text

The polymerase chain reaction, so simple, so clever: the discovery that made minimal residual disease come true by Cavé, Hélène

Get full text

Pediatric randomized trial EORTC CLG 58951: Outcome for adolescent population with acute lymphoblastic leukemia by Olivier‐Gougenheim, Laura, Arfeuille, Chloe, Suciu, Stefan, Sirvent, Nicolas, Plat, Geneviève, Ferster, Alina, de Moerloose, Barbara, Domenech, Carine, Uyttebroeck, Anne, Rohrlich, Pierre‐Simon, Cavé, Helene, Bertrand, Yves

“…Over the years, the prognosis of adolescents treated for acute lymphoblastic leukemia (ALL) has improved. However, this age group still represents a challenge…”
Get full text

IKZF1 deletions in pediatric acute lymphoblastic leukemia: still a poor prognostic marker? by Stanulla, Martin, Cavé, Hélène, Moorman, Anthony V.

“…Improved personalized adjustment of primary therapy to the perceived risk of relapse by using new prognostic markers for treatment stratification may be…”
Get full text

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation by Gelb, Bruce D, Cavé, Hélène, Dillon, Mitchell W, Gripp, Karen W, Lee, Jennifer A, Mason-Suares, Heather, Rauen, Katherine A, Williams, Bradley, Zenker, Martin, Vincent, Lisa M

“…Purpose Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain…”
Get full text

Efficacy of tyrosine kinase inhibitors in Ph-like acute lymphoblastic leukemia harboring ABL-class rearrangements by Tanasi, Ilaria, Ba, Ibrahima, Sirvent, Nicolas, Braun, Thorsten, Cuccuini, Wendy, Ballerini, Paola, Duployez, Nicolas, Tanguy-Schmidt, Aline, Tamburini, Jérôme, Maury, Sébastien, Doré, Eric, Himberlin, Chantal, Duclos, Cédric, Chevallier, Patrice, Rousselot, Philippe, Bonifacio, Massimiliano, Cavé, Hélène, Baruchel, André, Dombret, Hervé, Soulier, Jean, Landman-Parker, Judith, Boissel, Nicolas, Clappier, Emmanuelle

“…Abstract Tanasi et al present a prospective strategy for identifying patients with Philadelphia-like acute lymphoblastic leukemia, demonstrating the efficacy…”
Get full text

Neonatal diabetes mellitus: a disease linked to multiple mechanisms by Polak, Michel, Cavé, Hélène

“…Transient (TNDM) and Permanent (PNDM) Neonatal Diabetes Mellitus are rare conditions occurring in 1:300,000-400,000 live births. TNDM infants develop diabetes…”
Get full text

Favorable outcome of NUTM1-rearranged infant and pediatric B cell precursor acute lymphoblastic leukemia in a collaborative international study by Boer, Judith M., Valsecchi, Maria Grazia, Hormann, Femke M., Antić, Željko, Zaliova, Marketa, Schwab, Claire, Cazzaniga, Giovanni, Arfeuille, Chloé, Cavé, Hélène, Attarbaschi, Andishe, Strehl, Sabine, Escherich, Gabriele, Imamura, Toshihiko, Ohki, Kentaro, Grüber, Tanja A., Sutton, Rosemary, Pastorczak, Agata, Lammens, Tim, Lambert, Frédéric, Li, Chi Kong, Carrillo de Santa Pau, Enrique, Hoffmann, Steve, Möricke, Anja, Harrison, Christine J., Den Boer, Monique L., De Lorenzo, Paola, Stam, Ronald W., Bergmann, Anke K., Pieters, Rob

Get full text

Clinical characteristics and outcomes of B-ALL with ZNF384 rearrangements: a retrospective analysis by the Ponte di Legno Childhood ALL Working Group by Hirabayashi, Shinsuke, Butler, Ellie R., Ohki, Kentaro, Kiyokawa, Nobutaka, Bergmann, Anke K., Möricke, Anja, Boer, Judith M., Cavé, Hélène, Cazzaniga, Giovanni, Yeoh, Allen Eng Juh, Sanada, Masashi, Imamura, Toshihiko, Inaba, Hiroto, Mullighan, Charles, Loh, Mignon L., Norén-Nyström, Ulrika, Pastorczak, Agata, Shih, Lee-Yung, Zaliova, Marketa, Pui, Ching-Hon, Haas, Oskar A., Harrison, Christine J., Moorman, Anthony V., Manabe, Atsushi

Get full text

IKZF1 plus Defines a New Minimal Residual Disease-Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia by Stanulla, Martin, Dagdan, Elif, Zaliova, Marketa, Möricke, Anja, Palmi, Chiara, Cazzaniga, Giovanni, Eckert, Cornelia, Te Kronnie, Geertruy, Bourquin, Jean-Pierre, Bornhauser, Beat, Koehler, Rolf, Bartram, Claus R, Ludwig, Wolf-Dieter, Bleckmann, Kirsten, Groeneveld-Krentz, Stefanie, Schewe, Denis, Junk, Stefanie V, Hinze, Laura, Klein, Norman, Kratz, Christian P, Biondi, Andrea, Borkhardt, Arndt, Kulozik, Andreas, Muckenthaler, Martina U, Basso, Giuseppe, Valsecchi, Maria Grazia, Izraeli, Shai, Petersen, Britt-Sabina, Franke, Andre, Dörge, Petra, Steinemann, Doris, Haas, Oskar A, Panzer-Grümayer, Renate, Cavé, Hélène, Houlston, Richard S, Cario, Gunnar, Schrappe, Martin, Zimmermann, Martin

“…Purpose Somatic deletions that affect the lymphoid transcription factor-coding gene IKZF1 have previously been reported as independently associated with a poor…”
Get full text

Ikaros deficiency is associated with aggressive BCR-ABL1 B-cell precursor acute lymphoblastic leukemia independent of the lineage and developmental origin by Simand, Célestine, Keime, Céline, Cayé, Aurélie, Arfeuille, Chloé, Passet, Marie, Kim, Rathana, Cavé, Hélène, Clappier, Emmanuelle, Kastner, Philippe, Chan, Susan, Heizmann, Beate

Get full text

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia by Flex, Elisabetta, Petrangeli, Valentina, Stella, Lorenzo, Chiaretti, Sabina, Hornakova, Tekla, Knoops, Laurent, Ariola, Cristina, Fodale, Valentina, Clappier, Emmanuelle, Paoloni, Francesca, Martinelli, Simone, Fragale, Alessandra, Sanchez, Massimo, Tavolaro, Simona, Messina, Monica, Cazzaniga, Giovanni, Camera, Andrea, Pizzolo, Giovanni, Tornesello, Assunta, Vignetti, Marco, Battistini, Angela, Cavé, Hélène, Gelb, Bruce D, Renauld, Jean-Christophe, Biondi, Andrea, Constantinescu, Stefan N, Foà, Robin, Tartaglia, Marco

“…Aberrant signal transduction contributes substantially to leukemogenesis. The Janus kinase 1 (JAK1) gene encodes a cytoplasmic tyrosine kinase that…”
Get full text

Inflammatory response in hematopoietic stem and progenitor cells triggered by activating SHP2 mutations evokes blood defects by Solman, Maja, Blokzijl-Franke, Sasja, Piques, Florian, Yan, Chuan, Yang, Qiqi, Strullu, Marion, Kamel, Sarah M, Ak, Pakize, Bakkers, Jeroen, Langenau, David M, Cavé, Hélène, den Hertog, Jeroen

“…Gain-of-function mutations in the protein-tyrosine phosphatase SHP2 are the most frequently occurring mutations in sporadic juvenile myelomonocytic leukemia…”
Get full text

Localization of the NRAS:BCL-2 complex determines anti-apoptotic features associated with progressive disease in myelodysplastic syndromes by Le Pogam, Carole, Krief, Patricia, Beurlet, Stephanie, Soulié, Annie, Balitrand, Nicole, Cassinat, Bruno, Cavé, Helene, Kosmider, Olivier, Setterblad, Niclas, Leboeuf, Christophe, Sarda-Mantel, Laure, Hervatin, Florence, Merlet, Pascal, Noguera, Maria-Elena, Janin, Anne, Pla, Marika, Fontenay, Michaela, Adès, Lionel, Fenaux, Pierre, Chomienne, Christine, Padua, Rose Ann, Omidvar, Nader

“…Abstract We have previously demonstrated that two prognostic features of myelodysplastic syndromes (MDS) and acute myelogenous leukemia (AML), mutant NRAS and…”
Get full text

Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis by Vial, Yoann, Nardelli, Jeannette, Bonnard, Adeline A, Rousselot, Justine, Souyri, Michèle, Gressens, Pierre, Cavé, Hélène, Drunat, Séverine

“…Microcephaly is a common feature in inherited bone marrow failure syndromes, prompting investigations into shared pathways between neurogenesis and…”
Get full text

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome by Capri, Yline, Flex, Elisabetta, Krumbach, Oliver H.F., Carpentieri, Giovanna, Cecchetti, Serena, Lißewski, Christina, Rezaei Adariani, Soheila, Schanze, Denny, Brinkmann, Julia, Piard, Juliette, Pantaleoni, Francesca, Lepri, Francesca R., Goh, Elaine Suk-Ying, Chong, Karen, Stieglitz, Elliot, Meyer, Julia, Kuechler, Alma, Bramswig, Nuria C., Sacharow, Stephanie, Strullu, Marion, Vial, Yoann, Vignal, Cédric, Kensah, George, Cuturilo, Goran, Kazemein Jasemi, Neda S., Dvorsky, Radovan, Monaghan, Kristin G., Vincent, Lisa M., Cavé, Hélène, Verloes, Alain, Ahmadian, Mohammad R., Tartaglia, Marco, Zenker, Martin

“…Aberrant signaling through pathways controlling cell response to extracellular stimuli constitutes a central theme in disorders affecting development…”
Get full text

Determinants of CD19-positive vs CD19-negative relapse after tisagenlecleucel for B-cell acute lymphoblastic leukemia by Dourthe, Marie-Emilie, Rabian, Florence, Yakouben, Karima, Chevillon, Florian, Cabannes-Hamy, Aurélie, Méchinaud, Françoise, Grain, Audrey, Chaillou, Delphine, Rahal, Ilhem, Caillat-Zucman, Sophie, Lesprit, Emmanuelle, Naudin, Jérôme, Roupret-Serzec, Julie, Parquet, Nathalie, Brignier, Anne, Guérin-El Khourouj, Valérie, Lainey, Elodie, Caye-Eude, Aurélie, Cavé, Hélène, Clappier, Emmanuelle, Mathis, Stéphanie, Azoulay, Elie, Dalle, Jean Hugues, Dhédin, Nathalie, Madelaine, Isabelle, Larghero, Jérôme, Boissel, Nicolas, Baruchel, André

“…Tisagenlecleucel therapy has shown promising efficacy for relapsed/refractory (R/R) B-cell precursor acute lymphoblastic leukemia (BCP-ALL). However, relapses…”
Get full text

Activating Mutations in the ABCC8 Gene in Neonatal Diabetes Mellitus by Babenko, Andrey P, Polak, Michel, Cavé, Hélène, Busiah, Kanetee, Czernichow, Paul, Scharfmann, Raphael, Bryan, Joseph, Aguilar-Bryan, Lydia, Vaxillaire, Martine, Froguel, Philippe

“…In this study, mutations in the gene encoding the sulfonylurea receptor, a component of the beta-cell ATP-sensitive potassium channel, are described in infants…”
Get full text