GIGYF1 disruption associates with autism and impaired IGF-1R signaling

por Chen, Guodong, Yu, Bin, Tan, Senwei, Tan, Jieqiong, Jia, Xiangbin, Zhang, Qiumeng, Zhang, Xiaolei, Jiang, Qian, Hua, Yue, Han, Yaoling, Luo, Shengjie, Hoekzema, Kendra, Bernier, Raphael A., Earl, Rachel K., Kurtz-Nelson, Evangeline C., Idleburg, Michaela J., Madan-Khetarpal, Suneeta, Clark, Rebecca, Sebastian, Jessica, Fernandez-Jaen, Alberto, Alvarez, Sara, King, Staci D., Ramos, Luiza L.P., Santos, Mara Lucia S.F., Martin, Donna M., Brooks, Dan, Symonds, Joseph D., Cutcutache, Ioana, Pan, Qian, Hu, Zhengmao, Yuan, Ling, Eichler, Evan E., Xia, Kun, Guo, Hui
Publicado 2022

Lung Transplantation during COVID19 Pandemic: Latam Experience

por Bertolotti, A.M., Wainstein, E., Samano, M., Jaen, M. Wong, Tommasino, N., Undurraga, F., Linacre, V., Tellez, L.J., Gonzalez, R. Zapata, Fernades, L., Camargo, J., Velasquez, M., Andrade, C., Nietmann, H., Palacios, J., Candioti, M., Osses, J.M., Ahumada, R., Favaloro, R., Beveraggi, E., Da Lozzo, A., Svetliza, G., Jr, J.E. Afonso, Chavarria, U., Sanchez, S., Curbelo, P., Musetti, A., Chao, C., Perez, D. Lazo, Landeros, C. Sepulveda, Tanner, J. Melo, Varon, F., Garzon, J.C., Jaramillo, H. Ortega, Villamil, G. Roncancio, Camargo, S., Sanchez, L., Perin, F., Schio, S., Cujiño, I., Martinez, W.
Publicado 2021

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

por El Chehadeh, Salima, Han, Kyung Ah, Kim, Dongwook, Jang, Gyubin, Bakhtiari, Somayeh, Lim, Dongseok, Kim, Hee Young, Kim, Jinhu, Kim, Hyeonho, Wynn, Julia, Chung, Wendy K., Vitiello, Giuseppina, Cutcutache, Ioana, Page, Matthew, Gecz, Jozef, Harper, Kelly, Han, Ah-reum, Kim, Ho Min, Wessels, Marja, Bayat, Allan, Jaén, Alberto Fernández, Selicorni, Angelo, Maitz, Silvia, de Brouwer, Arjan P. M., Silfhout, Anneke Vulto-van, Armstrong, Martin, Symonds, Joseph, Küry, Sébastien, Isidor, Bertrand, Cogné, Benjamin, Nizon, Mathilde, Feger, Claire, Muller, Jean, Torti, Erin, Grange, Dorothy K., Willems, Marjolaine, Kruer, Michael C., Ko, Jaewon, Piton, Amélie, Um, Ji Won
Publicado 2022

Spanish Consensus Statement: The Treatment of Muscle Tears in Sport

por Fernandez-Jaén, Tomas F., Rey, Guillermo Álvarez, Cuesta, Jordi Ardevol, Loureda, Rafael Arriaza, España, Fernando Ávila, Matas, Ramón Balius, Pazos, Fernando Baró, de Dios Beas Jiménez, Juan, Rosell, Jorge Candel, Fernandez, César Cobián, Ros, Francisco Esparza, Colmenero, Josefina Espejo, de Prado, Jorge Fernández, Cota, Juan José García, González, Jose Ignacio Garrido, Santander, Manuela González, Munilla, Miguel Ángel Herrador, Ruiz, Francisco Ivorra, Díaz, Fernando Jiménez, Marqueta, Pedro Manonelles, Fernandez, Antonio Maestro, Benito, Juan José Muñoz, Vilás, Ramón Olivé, Teres, Xavier Peirau, Amaro, José Peña, Roque, Juan Pérez San, Parenteu, Christophe Ramírez, Serna, Juan Ribas, Álvarez, Mikel Sánchez, Marchori, Carlos Sanchez, Soto, Miguel del Valle, Alonso, José María Villalón, García, Pedro Guillen, de la Iglesia, Nicolas Hugo, Alcorocho, Juan Manuel Lopez
Publicado 2015

787 TIVURON PROJECT: AN INTERNATIONAL MULTICENTER PROSPECTIVE COHORT STUDY EVALUATING THE GASTROINTESTINAL SYMPTOMS AND COMPLICATIONS OF COVID-19 IN HOSPITALIZED PATIENTS

por Sánchez-Luna, Sergio A., Cárdenas-Jaén, Karina, Vaillo-Rocamora, Alicia, Zocchi, Micaela Riat Castro, Brañas, Daniel Useros, Blanco, Laura Guberna, Remes-Troche, Jose Maria, Medina, Antonio Ramos-De la, Parra, Bryan Adrian Priego, Velasco, Jose Antonio Velarde Ruiz, Martínez-Ayala, Pedro, Urzua, Alvaro M., Francois, Dannette Guíñez, Pawlak, Katarzyna M., Kozlowska-Petriczko, Katarzyna, Zamalloa, Irati Gorroño, Casares, C Urteaga, Polo, Inmaculada Ortiz, del Val Antonana, Adolfo, Hernández, Edgar E. Lozada, Moreno, Enrique Obregón, García-Rayado, Guillermo, Arnal, María José Domper, Deza, Diego Casas, Cabello, Elena Isabel Esteban, Riquelme, Arnoldo, Martinez, Helena, Romero, Francisco Navarro, Olivas, Ignasi, Muñoz, Guillem Iborra, Calero, Alicia, Caravaca-García, Ibán, Mateu, Rubén Pastor, Muñoz, B Lapeña, Lozano, Violeta Sastre, Vega, Nazaret M. Pizarro, Melcarne, Luigi, de-Madaria, Enrique
Publicado 2021

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

por Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, PIARD, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K.E., Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O’Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, Sadikovic, Bekim
Publicado 2023

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56(bright) NKG2A(+++) Cells, and Ye...

por Dobbs, Kerry, Tabellini, Giovanna, Calzoni, Enrica, Patrizi, Ornella, Martinez, Paula, Giliani, Silvia Clara, Moratto, Daniele, Al-Herz, Waleed, Cancrini, Caterina, Cowan, Morton, Bleesing, Jacob, Booth, Claire, Buchbinder, David, Burns, Siobhan O., Chatila, Talal A., Chou, Janet, Daza-Cajigal, Vanessa, Ott de Bruin, Lisa M., de la Morena, Maite Teresa, Di Matteo, Gigliola, Finocchi, Andrea, Geha, Raif, Goyal, Rakesh K., Hayward, Anthony, Holland, Steven, Huang, Chiung-Hui, Kanariou, Maria G., King, Alejandra, Kaplan, Blanka, Kleva, Anastasiya, Kuijpers, Taco W., Lee, Bee Wah, Lougaris, Vassilios, Massaad, Michel, Meyts, Isabelle, Morsheimer, Megan, Neven, Benedicte, Pai, Sung-Yun, Parvaneh, Nima, Plebani, Alessandro, Prockop, Susan, Reisli, Ismail, Soh, Jian Yi, Somech, Raz, Torgerson, Troy R., Kim, Yae-Jaen, Walter, Jolan E., Gennery, Andrew R., Keles, Sevgi, Manis, John P., Marcenaro, Emanuela, Moretta, Alessandro, Parolini, Silvia, Notarangelo, Luigi D.
Publicado 2017

Spanish Consensus Statement: Clinical Management and Treatment of Tendinopathies in Sport

por Fernandez-Jaén, Tomas, Rey, Guillermo Álvarez, Angulo, Francisco, Cuesta, Jordi Ardevol, Loureda, Rafael Arriaza, España, Fernando Ávila, Ayala, Juan, Matas, Ramón Balius, Pazos, Fernando Baró, de Dios Beas Jiménez, Juan, Rosell, Jorge Candel, Fernandez, César Cobián, del Pilar Doñoro Cuevas, Mª, Ros, Francisco Esparza, Colmenero, Josefina Espejo, de Prado, Jorge Fernández, García Cota, Juan José, Garrido González, Jose Ignacio, de Vega, Carlos Gonzalez, Santander, Manuela González, Herrador Munilla, Miguel Ángel, Ruiz, Francisco Ivorra, Díaz, Fernando Jiménez, Fernandez, Antonio Maestro, Marqueta, Pedro Manonelles, Muñoz Benito, Juan José, Vilás, Ramón Olivé, Pedret, Carles, Teres, Xavier Peirau, Amaro, José Peña, Grifell, Jordi Puigdellivoll, San Roque, Juan Pérez, Parenteu, Christophe Ramírez, Serna, Juan Ribas, Rodas, Gil, Álvarez, Mikel Sánchez, Marchori, Carlos Sanchez, Perez, Lluis Til, Durán, Rosario Ureña, del Valle Soto, Miguel, Villalón Alonso, José María, García, Pedro Guillen
Publicado 2017

Gastrointestinal symptoms and complications in patients hospitalized due to COVID-19, an international multicentre prospective cohort study (TIVURON project)

por Cárdenas-Jaén, Karina, Sánchez-Luna, Sergio A., Vaillo-Rocamora, Alicia, Castro-Zocchi, Micaela Riat, Guberna-Blanco, Laura, Useros-Brañas, Daniel, Remes-Troche, José M., Ramos-De la Medina, Antonio, Priego-Parra, Bryan A., Velarde-Ruiz Velasco, José A., Martínez-Ayala, Pedro, Urzúa, Álvaro, Guiñez-Francois, Dannette, Pawlak, Katarzyna M., Kozłowska-Petriczko, Katarzyna, Gorroño-Zamalloa, Irati, Urteaga-Casares, Clara, Ortiz-Polo, Inmaculada, del Val Antoñana, Adolfo, Lozada-Hernández, Edgard E., Obregón-Moreno, Enrique, García-Rayado, Guillermo, Domper-Arnal, María José, Casas-Deza, Diego, Esteban-Cabello, Elena I., Díaz, Luis A., Riquelme, Arnoldo, Martínez-Lozano, Helena, Navarro-Romero, Francisco, Olivas, Ignasi, Iborra-Muñoz, Guillem, Calero-Amaro, Alicia, Caravaca-García, Ibán, Lacueva-Gómez, Francisco J., Pastor-Mateu, Rubén, Lapeña-Muñoz, Berta, Sastre-Lozano, Violeta, Pizarro-Vega, Nazaret M., Melcarne, Luigi, Pedrosa-Aragón, Marc, Mira, José J., MStat, Aurora Mula, Carrillo, Irene, de-Madaria, Enrique
Publicado 2023

Gastrointestinal symptoms and complications in patients hospitalized due to COVID-19, an international multicentre prospective cohort study (TIVURON project)

por Cárdenas-Jaén, Karina, Sánchez-Luna, Sergio A., Vaillo-Rocamora, Alicia, Castro-Zocchi, Micaela Riat, Guberna-Blanco, Laura, Useros-Brañas, Daniel, Remes-Troche, José M., Ramos-De la Medina, Antonio, Priego-Parra, Bryan A., Velarde-Ruiz Velasco, José A., Martínez-Ayala, Pedro, Urzúa, Álvaro, Guiñez-Francois, Dannette, Pawlak, Katarzyna M., Kozłowska-Petriczko, Katarzyna, Gorroño-Zamalloa, Irati, Urteaga-Casares, Clara, Ortiz-Polo, Inmaculada, del Val Antoñana, Adolfo, Lozada-Hernández, Edgard E., Obregón-Moreno, Enrique, García-Rayado, Guillermo, Domper-Arnal, María José, Casas-Deza, Diego, Esteban-Cabello, Elena I., Díaz, Luis A., Riquelme, Arnoldo, Martínez-Lozano, Helena, Navarro-Romero, Francisco, Olivas, Ignasi, Iborra-Muñoz, Guillem, Calero-Amaro, Alicia, Caravaca-García, Ibán, Lacueva-Gómez, Francisco J., Pastor-Mateu, Rubén, Lapeña-Muñoz, Berta, Sastre-Lozano, Violeta, Pizarro-Vega, Nazaret M., Melcarne, Luigi, Pedrosa-Aragón, Marc, Mira, José J., MStat, Aurora Mula, Carrillo, Irene, de-Madaria, Enrique
Publicado 2023

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

por Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna
Publicado 2022

Genome Sequences of 19 Novel Erwinia amylovora Bacteriophages

por Esplin, Ian N. D., Berg, Jordan A., Sharma, Ruchira, Allen, Robert C., Arens, Daniel K., Ashcroft, Cody R., Bairett, Shannon R., Beatty, Nolan J., Bickmore, Madeline, Bloomfield, Travis J., Brady, T. Scott, Bybee, Rachel N., Carter, John L., Choi, Minsey C., Duncan, Steven, Fajardo, Christopher P., Foy, Brayden B., Fuhriman, David A., Gibby, Paul D., Grossarth, Savannah E., Harbaugh, Kala, Harris, Natalie, Hilton, Jared A., Hurst, Emily, Hyde, Jonathan R., Ingersoll, Kayleigh, Jacobson, Caitlin M., James, Brady D., Jarvis, Todd M., Jaen-Anieves, Daniella, Jensen, Garrett L., Knabe, Bradley K., Kruger, Jared L., Merrill, Bryan D., Pape, Jenny A., Payne Anderson, Ashley M., Payne, David E., Peck, Malia D., Pollock, Samuel V., Putnam, Micah J., Ransom, Ethan K., Ririe, Devin B., Robinson, David M., Rogers, Spencer L., Russell, Kerri A., Schoenhals, Jonathan E., Shurtleff, Christopher A., Simister, Austin R., Smith, Hunter G., Stephenson, Michael B., Staley, Lyndsay A., Stettler, Jason M., Stratton, Mallorie L., Tateoka, Olivia B., Tatlow, P. J., Taylor, Alexander S., Thompson, Suzanne E., Townsend, Michelle H., Thurgood, Trever L., Usher, Brittian K., Whitley, Kiara V., Ward, Andrew T., Ward, Megan E. H., Webb, Charles J., Wienclaw, Trevor M., Williamson, Taryn L., Wells, Michael J., Wright, Cole K., Breakwell, Donald P., Hope, Sandra, Grose, Julianne H.
Publicado 2017

Prevalence, characteristics, and impact of adverse events in 34 Madrid hospitals. The ESHMAD study

por Valencia‐Martín, José L., Vicente‐Guijarro, Jorge, San Jose‐Saras, Diego, Moreno‐Nunez, Paloma, Pardo‐Hernández, Alberto, Aranaz‐Andrés, Jesús María, Colomer Rosas, Asunción, Mediavilla Herrera, Inmaculada, Esteban Niveiro, Mª. José, López Fresneña, Nieves, Díaz‐Agero Pérez, Cristina, Ruiz Lopez, Pedro, Carrasco Gonzalez, Isabel, Navarro Royo, Cristina, Albéniz Lizarraga, Carmen, Villan Villan, Yuri Fabiola, Alguacil Pau, Ana Isabel, Díaz Redondo, Alicia, Plá Mestre, Rosa, Martín Ríos, Dolores, Figuerola Tejerina, Angels, Aibar Remón, Carlos, Mira Solves, José Joaquín, Requena Puche, Juana, González Solana, Idelfonso, Salcero Guijarro, Montserrat, Fernández Redondo, Delia, del Pozo García, Esteban, Bischofberger Valdés, Cornelia, Martín Prieto, Libertad, Grande Arnesto, Marta, Nieto Pereda, Beatriz, Herranz Alonso, Ana, Díaz Redondo, Alicia, Rubio Cirilo, Laura, Martos Martínez, Rafael, Ledo Varela, María Teresa, García Rosado, María Vicenta, Minaya Saíz, Jesús, Labrador Domínguez, María Jesús, Pita López, María José, Mayoral Peccis, Elia, Espinel Ruíz, Marco Antonio, Polo Parada, Ana, García Carrasco, Emely, Aranda Cosgaya, Carlos, Gutiérrez Bezón, Carmen, de Sebastián Rueda, María, Ruíz Álvarez, Miguel, Vinuesa Sebastián, Mercedes, Montserrat Capella, María Dolors, Ruíz Entrecanales, Carolina, de Miguel Fernández, Sonia, González Sánchez, María Pilar, Jaén Herreros, Felisa, Durá Jiménez, María José, de Burgos Lunar, Carmen, Alguacil Pau, Anabel, Valcárcel de la Iglesia, María Ángeles, Moratilla Monzó, Laura, Ortiz Otero, Mercedes, Mosquera González, Margarita, Lorenzo Martínez, Susana, Martín Ríos, María Dolores, Lucas Molina, Carolina, Sayalero Martín, María Teresa, Calles Gato, María Dolores, Granizo Martínez, Juan José, Vega Barea, Juan, Jiménez González de Buitrago, Eva, Fernández Jiménez, Inés, García Fernández, Cristina, López Carrillo, Inmaculada, Robustillo Rodela, Ana, Ramírez García, Elena, Sánchez Gómez, Romina, Franco Garrobo, Nieves, Plana Farrá, Nieves, Macías Maroto, Marta, Soler Vigil, Marta, de las Casas Cámara, Gonzalo, Gálvez Carranza, Nuria, Jiménez Muñoz, Ana Belén, Martínez Mondéjar, Belén, Isidoro Fernández, Beatriz, Sainz de los Terreros Soler, Lourdes, del Valle Giráldez García, Carolina, González Ferrer, Ruth, Ordóñez León, Guillermo, Miró Murillo, Miguel, Hernández Holgado, Rosalía, Blanco Hernández, Pilar Paloma, Carrascosa Bernaldez, José Manuel, Fraile Gil, Sonia, Fidalgo Hermida, Beatriz, Rodríguez Arias, Francisco López, Aranaz Ostáriz, Verónica, Pardo Ortiz, María
Publicado 2022