Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

por Bizet, Albane A., Becker-Heck, Anita, Ryan, Rebecca, Weber, Kristina, Filhol, Emilie, Krug, Pauline, Halbritter, Jan, Delous, Marion, Lasbennes, Marie-Christine, Linghu, Bolan, Oakeley, Edward J., Zarhrate, Mohammed, Nitschké, Patrick, Garfa-Traore, Meriem, Serluca, Fabrizio, Yang, Fan, Bouwmeester, Tewis, Pinson, Lucile, Cassuto, Elisabeth, Dubot, Philippe, Elshakhs, Neveen A. Soliman, Sahel, José A., Salomon, Rémi, Drummond, Iain A., Gubler, Marie-Claire, Antignac, Corinne, Chibout, Salahdine, Szustakowski, Joseph D., Hildebrandt, Friedhelm, Lorentzen, Esben, Sailer, Andreas W., Benmerah, Alexandre, Saint-Mezard, Pierre, Saunier, Sophie
Publicado 2015

Glutathione S Transferases Polymorphisms Are Independent Prognostic Factors in Lupus Nephritis Treated with Cyclophosphamide

por Audemard-Verger, Alexandra, Martin Silva, Nicolas, Verstuyft, Céline, Costedoat-Chalumeau, Nathalie, Hummel, Aurélie, Le Guern, Véronique, Sacré, Karim, Meyer, Olivier, Daugas, Eric, Goujard, Cécile, Sultan, Audrey, Lobbedez, Thierry, Galicier, Lionel, Pourrat, Jacques, Le Hello, Claire, Godin, Michel, Morello, Rémy, Lambert, Marc, Hachulla, Eric, Vanhille, Philippe, Queffeulou, Guillaume, Potier, Jacky, Dion, Jean-Jacques, Bataille, Pierre, Chauveau, Dominique, Moulis, Guillaume, Farge-Bancel, Dominique, Duhaut, Pierre, Saint-Marcoux, Bernadette, Deroux, Alban, Manuzak, Jennifer, Francès, Camille, Aumaitre, Olivier, Bezanahary, Holy, Becquemont, Laurent, Bienvenu, Boris
Publicado 2016

Haploinsufficiency of SF3B2 causes craniofacial microsomia

por Timberlake, Andrew T., Griffin, Casey, Heike, Carrie L., Hing, Anne V., Cunningham, Michael L., Chitayat, David, Davis, Mark R., Doust, Soghra J., Drake, Amelia F., Duenas-Roque, Milagros M., Goldblatt, Jack, Gustafson, Jonas A., Hurtado-Villa, Paula, Johns, Alexis, Karp, Natalya, Laing, Nigel G., Magee, Leanne, Mullegama, Sureni V., Pachajoa, Harry, Porras-Hurtado, Gloria L., Schnur, Rhonda E., Slee, Jennie, Singer, Steven L., Staffenberg, David A., Timms, Andrew E., Wise, Cheryl A., Zarante, Ignacio, Saint-Jeannet, Jean-Pierre, Luquetti, Daniela V.
Publicado 2021

Study of inplane flow and azimuthal distribution with 4$\pi$ detectors

por Angélique, J C, Popescu, R, Butà, A, Bizard, G, Brou, R, Cussol, D, He, Z Y, Kerambrun, A, Louvel, M, Patry, J P, Péter, J, Régimbart, R, Shen, W Q, Steckmeyer, J C, Tamain, B, Vient, E, Auger, G, Cabot, C, Créma, E, Doubre, H, Hagel, K, Jin, G M, Péghaire, A, Saint-Laurent, F, Cassagnou, Y, Legrain, R, Eudes, P, Lebrun, C, Rosato, E, Gonin, M, MacGrath, R, Jeong, S C, Lee, S M, Nagashima, Y, Nakagawa, T, Wada, R, Ogihara, M, Kasagi, J, Motobayashi, T, El-Masri, Y
Publicado 1994

Combination Therapies Targeting ALK-aberrant Neuroblastoma in Preclinical Models

por Tucker, Elizabeth R., Jiménez, Irene, Chen, Lindi, Bellini, Angela, Gorrini, Chiara, Calton, Elizabeth, Gao, Qiong, Che, Harvey, Poon, Evon, Jamin, Yann, Martins Da Costa, Barbara, Barker, Karen, Shrestha, Sumana, Hutchinson, J. Ciaran, Dhariwal, Simran, Goodman, Angharad, Del Nery, Elaine, Gestraud, Pierre, Bhalshankar, Jaydutt, Iddir, Yasmine, Saberi-Ansari, Elnaz, Saint-Charles, Alexandra, Geoerger, Birgit, Marques Da Costa, Maria Eugénia, Pierre-Eugène, Cécile, Janoueix-Lerosey, Isabelle, Decaudin, Didier, Nemati, Fariba, Carcaboso, Angel M., Surdez, Didier, Delattre, Olivier, George, Sally L., Chesler, Louis, Tweddle, Deborah A., Schleiermacher, Gudrun
Publicado 2023

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal network...

por Teunissen, Maria W A, Lewerissa, Elly, van Hugte, Eline J H, Wang, Shan, Ockeloen, Charlotte W, Koolen, David A, Pfundt, Rolph, Marcelis, Carlo L M, Brilstra, Eva, Howe, Jennifer L, Scherer, Stephen W, Le Guillou, Xavier, Bilan, Frédéric, Primiano, Michelle, Roohi, Jasmin, Piton, Amelie, de Saint Martin, Anne, Baer, Sarah, Seiffert, Simone, Platzer, Konrad, Jamra, Rami Abou, Syrbe, Steffen, Doering, Jan H, Lakhani, Shenela, Nangia, Srishti, Gilissen, Christian, Vermeulen, R Jeroen, Rouhl, Rob P W, Brunner, Han G, Willemsen, Marjolein H, Nadif Kasri, Nael
Publicado 2023

Business not as usual: how multisectoral collaboration can promote transformative change for health and sustainable development

por Kuruvilla, Shyama, Hinton, Rachael, Boerma, Ties, Bunney, Ryan, Casamitjana, Nuria, Cortez, Rafael, Fracassi, Patrizia, Franz-Vasdeki, Jennifer, Helldén, Daniel, McManus, Joanne, Papp, Susan, Rasanathan, Kumanan, Requejo, Jennifer, Silver, Karlee L, Tenhoope-Bender, Petra, Velleman, Yael, Wegner, Mary Nell, Armstrong, Corinne E, Barnett, Sarah, Blauvelt, Carla, Buang, Saidatul Norbaya, Bury, Louise, Callahan, Emily A, Das, Jai K, Gurnani, Vandana, Kaba, Mary White, Milman, Helia Molina, Murray, John, Renner, Ilona, Roche, Marion Leslie, Saint, Victoria, Simpson, Sarah, Subedar, Hasina, Ukhova, Daria, Velásquez, Claudia Nieves, Young, Patricia, Graham, Wendy
Publicado 2018

Molecular Characterization of Circulating Tumor DNA in Pediatric Rhabdomyosarcoma: A Feasibility Study

por Ruhen, Olivia, Lak, Nathalie S.M., Stutterheim, Janine, Danielli, Sara G., Chicard, Mathieu, Iddir, Yasmine, Saint-Charles, Alexandra, Di Paolo, Virginia, Tombolan, Lucia, Gatz, Susanne A., Aladowicz, Ewa, Proszek, Paula, Jamal, Sabri, Stankunaite, Reda, Hughes, Deborah, Carter, Paul, Izquierdo, Elisa, Wasti, Ajla, Chisholm, Julia C., George, Sally L., Pace, Erika, Chesler, Louis, Aerts, Isabelle, Pierron, Gaelle, Zaidi, Sakina, Delattre, Olivier, Surdez, Didier, Kelsey, Anna, Hubank, Michael, Bonvini, Paolo, Bisogno, Gianni, Di Giannatale, Angela, Schleiermacher, Gudrun, Schäfer, Beat W., Tytgat, Godelieve A.M., Shipley, Janet
Publicado 2022

Evolution of isotopic fission-fragment yields with bombarding energy

por Delaune, O, Caamaño, M, Farget, F, Tarasov, O B, Derkx, X, Schmidt, K-H, Audouin, L, Amthor, A M, Bacri, C -O, Barreau G, Bastin, B, Bazin, D, Benlliure J, Blank, B, Cacères, L, Casarejos, E, Fernández-Domínguez , B, Gaudefroy, L, Golabek, C, Grévy, S, Jurado, B, Kamalou, O, Lemasson, A, Lukyanov, S M, Mittig, W, Morrissey, D J, Navin, A, Pereira, J, Perrot, L, Rejmund, M, Roger, T, Saint-Laurent, M G, Savajols, H, Schmitt, C, Sherrill, B M, Stodel, C, Taieb, J, Thomas, J C, Villari, A C C
Publicado 2012

Organised Genome Dynamics in the Escherichia coli Species Results in Highly Diverse Adaptive Paths

por Touchon, Marie, Hoede, Claire, Tenaillon, Olivier, Barbe, Valérie, Baeriswyl, Simon, Bidet, Philippe, Bingen, Edouard, Bonacorsi, Stéphane, Bouchier, Christiane, Bouvet, Odile, Calteau, Alexandra, Chiapello, Hélène, Clermont, Olivier, Cruveiller, Stéphane, Danchin, Antoine, Diard, Médéric, Dossat, Carole, Karoui, Meriem El, Frapy, Eric, Garry, Louis, Ghigo, Jean Marc, Gilles, Anne Marie, Johnson, James, Le Bouguénec, Chantal, Lescat, Mathilde, Mangenot, Sophie, Martinez-Jéhanne, Vanessa, Matic, Ivan, Nassif, Xavier, Oztas, Sophie, Petit, Marie Agnès, Pichon, Christophe, Rouy, Zoé, Ruf, Claude Saint, Schneider, Dominique, Tourret, Jérôme, Vacherie, Benoit, Vallenet, David, Médigue, Claudine, Rocha, Eduardo P. C., Denamur, Erick
Publicado 2009

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

por Ramos, Eliana Marisa, Latourelle, Jeanne C., Lee, Ji-Hyun, Gillis, Tammy, Mysore, Jayalakshmi S., Squitieri, Ferdinando, Di Pardo, Alba, Di Donato, Stefano, Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Marder, Karen, Gusella, James F., Lee, Jong-Min, Alonso, Isabel, Sequeiros, Jorge, Myers, Richard H., MacDonald, Marcy E.
Publicado 2012

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

por Curie, Aurore, Nazir, Tatjana, Brun, Amandine, Paulignan, Yves, Reboul, Anne, Delange, Karine, Cheylus, Anne, Bertrand, Sophie, Rochefort, Fanny, Bussy, Gérald, Marignier, Stéphanie, Lacombe, Didier, Chiron, Catherine, Cossée, Mireille, Leheup, Bruno, Philippe, Christophe, Laugel, Vincent, De Saint Martin, Anne, Sacco, Silvia, Poirier, Karine, Bienvenu, Thierry, Souville, Isabelle, Gilbert-Dussardier, Brigitte, Bieth, Eric, Kauffmann, Didier, Briot, Philippe, de Fréminville, Bénédicte, Prieur, Fabienne, Till, Michel, Rooryck-Thambo, Caroline, Mortemousque, Isabelle, Bobillier-Chaumont, Isabelle, Toutain, Annick, Touraine, Renaud, Sanlaville, Damien, Chelly, Jamel, Freeman, Sonya, Kong, Jian, Hadjikhani, Nouchine, Gollub, Randy L, Roy, Alice, des Portes, Vincent
Publicado 2014

A high-quality genome sequence of Rosa chinensis to elucidate ornamental traits

por Hibrand Saint-Oyant, L., Ruttink, T., Hamama, L., Kirov, I., Lakhwani, D., Zhou, N. N., Bourke, P. M., Daccord, N., Leus, L., Schulz, D., Van de Geest, H., Hesselink, T., Van Laere, K., Debray, K., Balzergue, S., Thouroude, T., Chastellier, A., Jeauffre, J., Voisine, L., Gaillard, S., Borm, T. J. A., Arens, P., Voorrips, R. E., Maliepaard, C., Neu, E., Linde, M., Le Paslier, M. C., Bérard, A., Bounon, R., Clotault, J., Choisne, N., Quesneville, H., Kawamura, K., Aubourg, S., Sakr, S., Smulders, M. J. M., Schijlen, E., Bucher, E., Debener, T., De Riek, J., Foucher, F.
Publicado 2018

A Collaborative Model to Implement Flexible, Accessible and Efficient Oncogenetic Services for Hereditary Breast and Ovarian Cancer: The C-MOnGene Study

por Lapointe, Julie, Dorval, Michel, Chiquette, Jocelyne, Joly, Yann, Guertin, Jason Robert, Laberge, Maude, Gekas, Jean, Hébert, Johanne, Pomey, Marie-Pascale, Cruz-Marino, Tania, Touhami, Omar, Blanchet Saint-Pierre, Arnaud, Gagnon, Sylvain, Bouchard, Karine, Rhéaume, Josée, Boisvert, Karine, Brousseau, Claire, Castonguay, Lysanne, Fortier, Sylvain, Gosselin, Isabelle, Lachapelle, Philippe, Lavoie, Sabrina, Poirier, Brigitte, Renaud, Marie-Claude, Ruizmangas, Maria-Gabriela, Sebastianelli, Alexandra, Roy, Stéphane, Côté, Madeleine, Racine, Marie-Michelle, Roy, Marie-Claude, Côté, Nathalie, Brisson, Carmen, Charette, Nelson, Faucher, Valérie, Leblanc, Josianne, Dubeau, Marie-Ève, Plante, Marie, Desbiens, Christine, Beaumont, Martin, Simard, Jacques, Nabi, Hermann
Publicado 2021