Neonatal diabetes mellitus: a disease linked to multiple mechanisms

Por Polak, Michel, Cavé, Hélène
Publicado em 2007

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

Por Beneteau, Claire, Cavé, Hélène, Moncla, Anne, Dorison, Nathalie, Munnich, Arnold, Verloes, Alain, Leheup, Bruno
Publicado em 2009

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

Por Gilbert-Dussardier, Brigitte, Briand-Suleau, Audrey, Laurendeau, Ingrid, Bilan, Frédéric, Cavé, Hélène, Verloes, Alain, Vidaud, Michel, Vidaud, Dominique, Pasmant, Eric
Publicado no Orphanet J Rare Dis (2016)

Breakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphob...

Por Caye, Aurélie, Beldjord, Kheïra, Mass-Malo, Kelly, Drunat, Séverine, Soulier, Jean, Gandemer, Virginie, Baruchel, André, Bertrand, Yves, Cavé, Hélène, Clappier, Emmanuelle
Publicado em 2013

Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

Por Allanson, Judith E, Annerén, Göran, Aoki, Yoki, Armour, Christine M, Bondeson, Marie-Louise, Cave, Helene, Gripp, Karen W, Kerr, Bronwyn, Nystrom, Anna-Maja, Sol-Church, Katia, Verloes, Alain, Zenker, Martin
Publicado em 2011

Distinctive genotypes in infants with T‐cell acute lymphoblastic leukaemia

Por Mansur, Marcela B., van Delft, Frederik W., Colman, Susan M., Furness, Caroline L., Gibson, Jane, Emerenciano, Mariana, Kempski, Helena, Clappier, Emmanuelle, Cave, Hélène, Soulier, Jean, Pombo‐de‐Oliveira, Maria S., Greaves, Mel, Ford, Anthony M.
Publicado no Br J Haematol (2015)

Dexamethasone (6 mg/m(2)/day) and prednisolone (60 mg/m(2)/day) were equally effective as induction therapy for childhood acute lymphoblastic leukemia in the EORTC CLG 58951 random...

Por Domenech, Carine, Suciu, Stefan, De Moerloose, Barbara, Mazingue, Françoise, Plat, Geneviève, Ferster, Alina, Uyttebroeck, Anne, Sirvent, Nicolas, Lutz, Patrick, Yakouben, Karima, Munzer, Martine, Röhrlich, Pierre, Plantaz, Dominique, Millot, Frederic, Philippet, Pierre, Dastugue, Nicole, Girard, Sandrine, Cavé, Hélène, Benoit, Yves, Bertrandfor, Yves
Publicado em 2014

Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling

Por Bourquin, Jean-Pierre, Subramanian, Aravind, Langebrake, Claudia, Reinhardt, Dirk, Bernard, Olivier, Ballerini, Paola, Baruchel, André, Cavé, Hélène, Dastugue, Nicole, Hasle, Henrik, Kaspers, Gertjan L., Lessard, Michel, Michaux, Lucienne, Vyas, Paresh, van Wering, Elisabeth, Zwaan, Christian M., Golub, Todd R., Orkin, Stuart H.
Publicado em 2006

Cardio‐facio‐cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Por Nava, Caroline, Hanna, Nadine, Michot, Caroline, Pereira, Sabrina, Pouvreau, Nathalie, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Arveiler, Benoit, Lacombe, Didier, Pasmant, Eric, Parfait, Béatrice, Baumann, Clarisse, Héron, Delphine, Sigaudy, Sabine, Toutain, Annick, Rio, Marlène, Goldenberg, Alice, Leheup, Bruno, Verloes, Alain, Cavé, Hélène
Publicado em 2007

Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331 INS Mutation Found in Neonatal Diabetes Me...

Por Bonnefond, Amélie, Lomberk, Gwen, Buttar, Navtej, Busiah, Kanetee, Vaillant, Emmanuel, Lobbens, Stéphane, Yengo, Loïc, Dechaume, Aurélie, Mignot, Brigitte, Simon, Albane, Scharfmann, Raphaël, Neve, Bernadette, Tanyolaç, Sinan, Hodoglugil, Ugur, Pattou, François, Cavé, Hélène, Iovanna, Juan, Stein, Roland, Polak, Michel, Vaxillaire, Martine, Froguel, Philippe, Urrutia, Raul
Publicado em 2011

LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity

Por Tajan, Mylène, Batut, Aurélie, Cadoudal, Thomas, Deleruyelle, Simon, Le Gonidec, Sophie, Saint Laurent, Céline, Vomscheid, Maëlle, Wanecq, Estelle, Tréguer, Karine, De Rocca Serra-Nédélec, Audrey, Vinel, Claire, Marques, Marie-Adeline, Pozzo, Joffrey, Kunduzova, Oksana, Salles, Jean-Pierre, Tauber, Maithé, Raynal, Patrick, Cavé, Hélène, Edouard, Thomas, Valet, Philippe, Yart, Armelle
Publicado em 2014

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia

Por 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
Publicado em 2008

LIN28B is over-expressed in specific subtypes of pediatric leukemia and regulates lncRNA H19

Por Helsmoortel, Hetty H., De Moerloose, Barbara, Pieters, Tim, Ghazavi, Farzaneh, Bresolin, Silvia, Cavé, Hélène, de Vries, Andrica, de Haas, Valerie, Flotho, Christian, Labarque, Veerle, Niemeyer, Charlotte, De Paepe, Pascale, Van Roy, Nadine, Stary, Jan, van den Heuvel-Eibrink, Marry M., Benoit, Yves, Schulte, Johannes, Goossens, Steven, Berx, Geert, Haigh, Jody J., Speleman, Frank, Van Vlierberghe, Pieter, Lammens, Tim
Publicado no Haematologica (2016)

Criteria for evaluating response and outcome in clinical trials for children with juvenile myelomonocytic leukemia

Por Niemeyer, Charlotte M., Loh, Mignon L., Cseh, Annamaria, Cooper, Todd, Dvorak, Christopher C., Chan, Rebecca, Xicoy, Blanca, Germing, Ulrich, Kojima, Seiji, Manabe, Atsushi, Dworzak, Michael, De Moerloose, Barbara, Starý, Jan, Smith, Owen P., Masetti, Riccardo, Catala, Albert, Bergstraesser, Eva, Ussowicz, Marek, Fabri, Oskana, Baruchel, André, Cavé, Hélène, Zwaan, Michel, Locatelli, Franco, Hasle, Henrik, van den Heuvel-Eibrink, Marry M., Flotho, Christian, Yoshimi, Ayami
Publicado no Haematologica (2015)

CD200/BTLA deletions in pediatric precursor B-cell acute lymphoblastic leukemia treated according to the EORTC-CLG 58951 protocol

Por Ghazavi, Farzaneh, Clappier, Emmanuelle, Lammens, Tim, Suciu, Stefan, Caye, Aurélie, Zegrari, Samira, Bakkus, Marleen, Grardel, Nathalie, Benoit, Yves, Bertrand, Yves, Minckes, Odile, Costa, Vitor, Ferster, Alina, Mazingue, Françoise, Plat, Geneviève, Plouvier, Emmanuel, Poirée, Marilyne, Uyttebroeck, Anne, van der Werff-ten Bosch, Jutte, Yakouben, Karima, Helsmoortel, Hetty, Meul, Magali, Van Roy, Nadine, Philippé, Jan, Speleman, Frank, Cavé, Hélène, Van Vlierberghe, Pieter, De Moerloose, Barbara
Publicado no Haematologica (2015)

Genotype and phenotype spectrum of NRAS germline variants

Por Altmüller, Franziska, Lissewski, Christina, Bertola, Debora, Flex, Elisabetta, Stark, Zornitza, Spranger, Stephanie, Baynam, Gareth, Buscarilli, Michelle, Dyack, Sarah, Gillis, Jane, Yntema, Helger G, Pantaleoni, Francesca, van Loon, Rosa LE, MacKay, Sara, Mina, Kym, Schanze, Ina, Tan, Tiong Yang, Walsh, Maie, White, Susan M, Niewisch, Marena R, García-Miñaúr, Sixto, Plaza, Diego, Ahmadian, Mohammad Reza, Cavé, Hélène, Tartaglia, Marco, Zenker, Martin
Publicado no Eur J Hum Genet (2017)

Myeloid dysregulation in a human induced pluripotent stem cell model of PTPN11-associated juvenile myelomonocytic leukemia

Por Mulero-Navarro, Sonia, Sevilla, Ana, Roman, Angel C., Lee, Dung-Fang, D’Souza, Sunita L., Pardo, Sherly, Riess, Ilan, Su, Jie, Cohen, Ninette, Schaniel, Christoph, Rodriguez, Nelson A., Baccarini, Alessia, Brown, Brian D., Cavé, Hélène, Caye, Aurélie, Strullu, Marion, Yalcin, Safak, Park, Christopher Y., Dhandapany, Perundurai S., Yongchao, Ge, Edelmann, Lisa, Bahieg, Sawsan, Raynal, Patrick, Flex, Elisabetta, Tartaglia, Marco, Moore, Kateri A., Lemischka, Ihor R., Gelb, Bruce D.
Publicado no Cell Rep (2015)

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

Por Cavé, Hélène, Caye, Aurélie, Ghedira, Nehla, Capri, Yline, Pouvreau, Nathalie, Fillot, Natacha, Trimouille, Aurélien, Vignal, Cédric, Fenneteau, Odile, Alembik, Yves, Alessandri, Jean-Luc, Blanchet, Patricia, Boute, Odile, Bouvagnet, Patrice, David, Albert, Dieux Coeslier, Anne, Doray, Bérénice, Dulac, Olivier, Drouin-Garraud, Valérie, Gérard, Marion, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Lyonnet, Stanislas, Perrin, Laurence, Rio, Marlène, Roume, Joëlle, Sauvion, Sylvie, Toutain, Annick, Vincent-Delorme, Catherine, Willems, Marjorie, Baumann, Clarisse, Verloes, Alain
Publicado no Eur J Hum Genet (2016)

The TLX1 oncogene drives aneuploidy in T-cell transformation

Por De Keersmaecker, Kim, Real, Pedro Jose, Gatta, Giusy Della, Palomero, Teresa, Sulis, Maria Luisa, Tosello, Valeria, Van Vlierberghe, Pieter, Barnes, Kelly, Castillo, Mireia, Sole, Xavier, Hadler, Michael, Lenz, Jack, Aplan, Peter D., Kelliher, Michelle, Kee, Barbara L., Pandolfi, Pier Paolo, Kappes, Dietmar, Gounari, Fotini, Petrie, Howard, Van der Meulen, Joni, Speleman, Frank, Paietta, Elisabeth, Racevskis, Janis, Wiernik, Peter H., Rowe, Jacob M., Soulier, Jean, Avran, David, Cavé, Hélène, Dastugue, Nicole, Raimondi, Susana, Meijerink, Jules P.P., Cordon-Cardo, Carlos, Califano, Andrea, Ferrando, Adolfo A.
Publicado em 2010

Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome

Por Cordeddu, Viviana, Yin, Jiani C., Gunnarsson, Cecilia, Virtanen, Carl, Drunat, Séverine, Lepri, Francesca, De Luca, Alessandro, Rossi, Cesare, Ciolfi, Andrea, Pugh, Trevor J., Bruselles, Alessandro, Priest, James R., Pennacchio, Len A., Lu, Zhibin, Danesh, Arnavaz, Quevedo, Rene, Hamid, Alaa, Martinelli, Simone, Pantaleoni, Francesca, Gnazzo, Maria, Daniele, Paola, Lissewski, Christina, Bocchinfuso, Gianfranco, Stella, Lorenzo, Odent, Sylvie, Philip, Nicole, Faivre, Laurence, Vlckova, Marketa, Seemanova, Eva, Digilio, Cristina, Zenker, Martin, Zampino, Giuseppe, Verloes, Alain, Dallapiccola, Bruno, Roberts, Amy E., Cavé, Hélène, Gelb, Bruce D., Neel, Benjamin G., Tartaglia, Marco
Publicado no Hum Mutat (2015)