Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

por Caputo, Sandrine M., Léone, Mélanie, Damiola, Francesca, Ehlen, Asa, Carreira, Aura, Gaidrat, Pascaline, Martins, Alexandra, Brandão, Rita D., Peixoto, Ana, Vega, Ana, Houdayer, Claude, Delnatte, Capucine, Bronner, Myriam, Muller, Danièle, Castera, Laurent, Guillaud-Bataille, Marine, Søkilde, Inge, Uhrhammer, Nancy, Demontety, Sophie, Tubeuf, Hélène, Castelain, Gaïa, Jensen, Uffe Birk, Petitalot, Ambre, Krieger, Sophie, Lefol, Cédrick, Moncoutier, Virginie, Boutry-Kryza, Nadia, Nielsen, Henriette Roed, Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Spurdle, Amanda B., Teixeira, Manuel R., Coulet, Florence, Thomassen, Mads, Rouleau, Etienne
Publicado 2018

Consensus Document ANMCO/ANCE/ARCA/GICR-IACPR/GISE/SICOA: Long-term Antiplatelet Therapy in Patients with Coronary Artery Disease

por Gulizia, Michele Massimo, Colivicchi, Furio, Abrignani, Maurizio Giuseppe, Ambrosetti, Marco, Aspromonte, Nadia, Barile, Gabriella, Caporale, Roberto, Casolo, Giancarlo, Chiuini, Emilia, Di Lenarda, Andrea, Faggiano, Pompilio, Gabrielli, Domenico, Geraci, Giovanna, La Manna, Alessio Gaetano, Maggioni, Aldo Pietro, Marchese, Alfredo, Massari, Ferdinando Maria, Mureddu, Gian Francesco, Musumeci, Giuseppe, Nardi, Federico, Panno, Antonio Vittorio, Pedretti, Roberto Franco Enrico, Piredda, Massimo, Pusineri, Enrico, Riccio, Carmine, Rossini, Roberta, di Uccio, Fortunato Scotto, Urbinati, Stefano, Varbella, Ferdinando, Zito, Giovanni Battista, De Luca, Leonardo
Publicado 2018

A platform for discovery of functional cell-penetrating peptides for efficient multi-cargo intracellular delivery

por Hoffmann, Katrin, Milech, Nadia, Juraja, Suzy M., Cunningham, Paula T., Stone, Shane R., Francis, Richard W., Anastasas, Mark, Hall, Clinton M., Heinrich, Tatjana, Bogdawa, Heique M., Winslow, Scott, Scobie, Marie N., Dewhurst, Robert E., Florez, Laura, Ong, Ferrer, Kerfoot, Maria, Champain, Danie, Adams, Abbie M., Fletcher, Susan, Viola, Helena M., Hool, Livia C., Connor, Theresa, Longville, Brooke A. C., Tan, Yew-Foon, Kroeger, Karen, Morath, Volker, Weiss, Gregory A., Skerra, Arne, Hopkins, Richard M., Watt, Paul M.
Publicado 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

por Leman, Raphaël, Gaildrat, Pascaline, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Publicado 2018

Methylation of all BRCA1 copies predicts response to the PARP inhibitor rucaparib in ovarian carcinoma

por Kondrashova, Olga, Topp, Monique, Nesic, Ksenija, Lieschke, Elizabeth, Ho, Gwo-Yaw, Harrell, Maria I., Zapparoli, Giada V., Hadley, Alison, Holian, Robert, Boehm, Emma, Heong, Valerie, Sanij, Elaine, Pearson, Richard B., Krais, John J., Johnson, Neil, McNally, Orla, Ananda, Sumitra, Alsop, Kathryn, Hutt, Karla J., Kaufmann, Scott H., Lin, Kevin K., Harding, Thomas C., Traficante, Nadia, deFazio, Anna, McNeish, Iain A., Bowtell, David D., Swisher, Elizabeth M., Dobrovic, Alexander, Wakefield, Matthew J., Scott, Clare L.
Publicado 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

por Leman, Raphaël, Gaildrat, Pascaline, Gac, Gérald L, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Paillerets, Brigitte Bressac-de, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Publicado 2018

An airway epithelial IL-17A response signature identifies a steroid-unresponsive COPD patient subgroup

por Christenson, Stephanie A., van den Berge, Maarten, Faiz, Alen, Inkamp, Kai, Bhakta, Nirav, Bonser, Luke R., Zlock, Lorna T., Barjaktarevic, Igor Z., Barr, R. Graham, Bleecker, Eugene R., Boucher, Richard C., Bowler, Russell P., Comellas, Alejandro P., Curtis, Jeffrey L., Han, MeiLan K., Hansel, Nadia N., Hiemstra, Pieter S., Kaner, Robert J., Krishnanm, Jerry A., Martinez, Fernando J., O’Neal, Wanda K., Paine, Robert, Timens, Wim, Wells, J. Michael, Spira, Avrum, Erle, David J., Woodruff, Prescott G.
Publicado 2018

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

por Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry
Publicado 2019

Measurement challenge: protocol for international case–control comparison of mammographic measures that predict breast cancer risk

por Dench, Evenda, Bond-Smith, Daniela, Darcey, Ellie, Lee, Grant, Aung, Ye K, Chan, Ariane, Cuzick, Jack, Ding, Ze Y, Evans, Chris F, Harvey, Jennifer, Highnam, Ralph, Hsieh, Meng-Kang, Kontos, Despina, Li, Shuai, Mariapun, Shivaani, Nickson, Carolyn, Nguyen, Tuong L, Pertuz, Said, Procopio, Pietro, Rajaram, Nadia, Repich, Kathy, Tan, Maxine, Teo, Soo-Hwang, Trinh, Nhut Ho, Ursin, Giske, Wang, Chao, dos-Santos-Silva, Isabel, McCormack, Valerie, Nielsen, Mads, Shepherd, John, Hopper, John L, Stone, Jennifer
Publicado 2019

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

por Leman, Raphaël, Gaildrat, Pascaline, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Publicado 2020

Evaluation of heterologous prime-boost vaccination strategies using chimpanzee adenovirus and modified vaccinia virus for TB subunit vaccination in rhesus macaques

por Vierboom, Michel P. M., Chenine, Agnes L., Darrah, Patricia A., Vervenne, Richard A. W., Boot, Charelle, Hofman, Sam O., Sombroek, Claudia C., Dijkman, Karin, Khayum, Mohamed A., Stammes, Marieke A., Haanstra, Krista G., Hoffmann, Chantal, Schmitt, Doris, Silvestre, Nathalie, White, Alexander G., Borish, H. Jacob, Seder, Robert A., Ouaked, Nadia, Leung-Theung-Long, Stephane, Inchauspé, Geneviève, Anantha, Ravi, Limbach, Mary, Evans, Thomas G., Casimiro, Danilo, Lempicki, Maria, Laddy, Dominick J., Bonavia, Aurelio, Verreck, Frank A. W.
Publicado 2020

High Rate of Non-Human Feeding by Aedes aegypti Reduces Zika Virus Transmission in South Texas

por Olson, Mark F., Ndeffo-Mbah, Martial L., Juarez, Jose G., Garcia-Luna, Selene, Martin, Estelle, Borucki, Monica K., Frank, Matthias, Estrada-Franco, José Guillermo, Rodríguez-Pérez, Mario A., Fernández-Santos, Nadia A., Molina-Gamboa, Gloria de Jesús, Carmona Aguirre, Santos Daniel, Reyes-Berrones, Bernardita de Lourdes, Cortés-De la cruz, Luis Javier, García-Barrientos, Alejandro, Huidobro-Guevara, Raúl E., Brussolo-Ceballos, Regina M., Ramirez, Josue, Salazar, Aaron, Chaves, Luis F., Badillo-Vargas, Ismael E., Hamer, Gabriel L.
Publicado 2020

Increased airway iron parameters and risk for exacerbation in COPD: an analysis from SPIROMICS

por Zhang, William Z., Oromendia, Clara, Kikkers, Sarah Ann, Butler, James J., O’Beirne, Sarah, Kim, Kihwan, O’Neal, Wanda K., Freeman, Christine M., Christenson, Stephanie A., Peters, Stephen P., Wells, J. Michael, Doerschuk, Claire, Putcha, Nirupama, Barjaktarevic, Igor, Woodruff, Prescott G., Cooper, Christopher B., Bowler, Russell P., Comellas, Alejandro P., Criner, Gerard J., Paine, Robert, Hansel, Nadia N., Han, Meilan K., Crystal, Ronald G., Kaner, Robert J., Ballman, Karla V., Curtis, Jeffrey L., Martinez, Fernando J., Cloonan, Suzanne M.
Publicado 2020

Emergency orthopaedic surgery in the pandemic era: A case series at Cipto Mangunkusumo national tertiary hospital in Jakarta, Indonesia

por Kamal, Achmad Fauzi, Widodo, Wahyu, Kuncoro, Mohamad Walid, Karda, I. Wayan Arya Mahendra, Prabowo, Yogi, Habib, Hadiki, Liastuti, Lies Dina, Trimartani, Hutagalung, Errol Untung, Saleh, Ifran, Tobing, Singkat Dohar A.L., Gunawan, Bambang, Dilogo, Ismail Hadisoebroto, Lubis, Andri MT, Kurniawan, Aryadi, Rahyussalim, Ahmad Jabir, Oesman, Ihsan, Ifran, Nadia NPPS, Latief, Wildan, Wijaya, Mohammad Triadi, Ivansyah, Muhammad Deryl, Primaputra, Muhammad Rizqi Adhi, Reksoprodjo, Adisa Yusuf, Hendriarto, Andra, Novriandi, K.M. Azka, Alaztha, Ziad, Canintika, Anissa Feby, Sitanggang, Anita Happy Rahayu
Publicado 2020

EULAR definition of difficult-to-treat rheumatoid arthritis

por Nagy, György, Roodenrijs, Nadia MT, Welsing, Paco MJ, Kedves, Melinda, Hamar, Attila, van der Goes, Marlies C, Kent, Alison, Bakkers, Margot, Blaas, Etienne, Senolt, Ladislav, Szekanecz, Zoltan, Choy, Ernest, Dougados, Maxime, Jacobs, Johannes WG, Geenen, Rinie, Bijlsma, Hans WJ, Zink, Angela, Aletaha, Daniel, Schoneveld, Leonard, van Riel, Piet, Gutermann, Loriane, Prior, Yeliz, Nikiphorou, Elena, Ferraccioli, Gianfranco, Schett, Georg, Hyrich, Kimme L, Mueller-Ladner, Ulf, Buch, Maya H, McInnes, Iain B, van der Heijde, Désirée, van Laar, Jacob M
Publicado 2021

Gastrointestinal manifestations are associated with severe pediatric COVID-19: A study in tertiary hospital

por de Paula, Camila Sanson Yoshino, Palandri, Giovanna Gavros, Fonseca, Taiane Siraisi, Vendramini, Thaís Cristina Annibale, Farhat, Sylvia Costa Lima, Pereira, Maria Fernanda Badue, Litvinov, Nadia, Toma, Ricardo Katsuya, de Sá, Fernanda Viveiros Moreira, Rodrigues, Katharina Reichmann, Schvartsman, Cláudio, Forsait, Silvana, Sakita, Neusa Keico, Kanunfre, Kelly Aparecida, Rocha, Mussya Cisotto, dos Santos, Emilly Henrique, Okay, Thelma Suely, Pinho, João Renato Rebello, de Carvalho, Werther Brunow, Carneiro-Sampaio, Magda, Almeida Silva, Clovis Artur, Marques, Heloisa Helena de Sousa
Publicado 2021

Genetics of symptom remission in outpatients with COVID-19

por Dubé, Marie-Pierre, Lemaçon, Audrey, Barhdadi, Amina, Lemieux Perreault, Louis-Philippe, Oussaïd, Essaïd, Asselin, Géraldine, Provost, Sylvie, Sun, Maxine, Sandoval, Johanna, Legault, Marc-André, Mongrain, Ian, Dubois, Anick, Valois, Diane, Dedelis, Emma, Lousky, Jennifer, Choi, Julie, Goulet, Elisabeth, Savard, Christiane, Chicoine, Lea-Mei, Cossette, Mariève, Chabot-Blanchet, Malorie, Guertin, Marie-Claude, de Denus, Simon, Bouabdallaoui, Nadia, Marchand, Richard, Bassevitch, Zohar, Nozza, Anna, Gaudet, Daniel, L’Allier, Philippe L., Hussin, Julie, Boivin, Guy, Busseuil, David, Tardif, Jean-Claude
Publicado 2021

Serologic response to SARS-CoV-2 in an African population

por Fai, Karl Njuwa, Corine, Tchoula Mamiafo, Bebell, Lisa M., Mboringong, Akenji Blaise, Nguimbis, E.B.P. Taa, Nsaibirni, Robert, Mbarga, Nicole Fouda, Eteki, Lucrece, Nikolay, Birgit, Essomba, Rene Ghislain, Ndifon, Mark, Ntone, Rodrigue, Hamadou, Achta, Matchim, Lucrece, Tchiasso, Dora, Abah Abah, Aristide S., Essaka, Rachel, Peppa, Solange, Crescence, Fouda, Ouamba, Jean Patrick, Koku, Modeste Tamakloé, Mandeng, Nadia, Fanne, Mahamat, Eyangoh, Sarah, Mballa, Georges Alain Etoundi, Esso, Linda, Epée, Emilienne, Njouom, Richard, Okomo Assoumou, Marie-Claire, Boum, Yap
Publicado 2021

The metabesity factor HMG20A potentiates astrocyte survival and reactive astrogliosis preserving neuronal integrity

por Lorenzo, Petra I., Martin Vazquez, Eugenia, López-Noriega, Livia, Fuente-Martín, Esther, Mellado-Gil, José M., Franco, Jaime M., Cobo-Vuilleumier, Nadia, Guerrero Martínez, José A., Romero-Zerbo, Silvana Y., Perez-Cabello, Jesús A., Rivero Canalejo, Sabrina, Campos-Caro, Antonio, Lachaud, Christian Claude, Crespo Barreda, Alejandra, Aguilar-Diosdado, Manuel, García Fuentes, Eduardo, Martin-Montalvo, Alejandro, Álvarez Dolado, Manuel, Martin, Franz, Rojo-Martinez, Gemma, Pozo, David, Bérmudez-Silva, Francisco J., Comaills, Valentine, Reyes, José C., Gauthier, Benoit R.
Publicado 2021

Tracheostomy Timing and Outcome in Severe COVID-19: The WeanTrach Multicenter Study

por Battaglini, Denise, Missale, Francesco, Schiavetti, Irene, Filauro, Marta, Iannuzzi, Francesca, Ascoli, Alessandro, Bertazzoli, Alberto, Pascucci, Federico, Grasso, Salvatore, Murgolo, Francesco, Binda, Simone, Maraggia, Davide, Montrucchio, Giorgia, Sales, Gabriele, Pascarella, Giuseppe, Agrò, Felice Eugenio, Faccio, Gaia, Ferraris, Sandra, Spadaro, Savino, Falò, Giulia, Mereto, Nadia, Uva, Alessandro, Maugeri, Jessica Giuseppina, Agrippino, Bellissima, Vargas, Maria, Servillo, Giuseppe, Robba, Chiara, Ball, Lorenzo, Mora, Francesco, Signori, Alessio, Torres, Antoni, Giacobbe, Daniele Roberto, Vena, Antonio, Bassetti, Matteo, Peretti, Giorgio, Rocco, Patricia R. M., Pelosi, Paolo
Publicado 2021