A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site

por Salas, Pilar Carrasco, Rosales, José Miguel Lezana, Milla, Carmen Palma, Montiel, Javier López, Siles, Juan López
Publicado 2015

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review

por Gómez-Rodríguez, Maria Jose, Morales-Conejo, Montserrat, Arteche-López, Ana, Sánchez-Calvín, Maria Teresa, Quesada-Espinosa, Juan Francisco, Gómez-Manjón, Irene, Palma-Milla, Carmen, Lezana-Rosales, Jose Miguel, Pérez de la Fuente, Ruben, Martin-Ramos, Maria-Luisa, Fernández-Guijarro, Manuela, Moreno-García, Marta, Alvarez-Mora, Maria Isabel
Publicado 2022

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

por Alvarez-Mora, Maria Isabel, Blanco-Palmero, Victor Antonio, Quesada-Espinosa, Juan Francisco, Arteche-Lopez, Ana Rosa, Llamas-Velasco, Sara, Palma Milla, Carmen, Lezana Rosales, Jose Miguel, Gomez-Manjon, Irene, Hernandez-Lain, Aurelio, Jimenez Almonacid, Justino, Gil-Fournier, Belén, Ramiro-León, Soraya, González-Sánchez, Marta, Herrero-San Martín, Alejandro Octavio, Pérez-Martínez, David Andrés, Gómez-Tortosa, Estrella, Carro, Eva, Bartolomé, Fernando, Gomez-Rodriguez, Maria Jose, Sanchez-Calvin, María Teresa, Villarejo-Galende, Alberto, Moreno-Garcia, Marta
Publicado 2022

Prevalence of resistance associated substitutions and efficacy of baseline resistance-guided chronic hepatitis C treatment in Spain from the GEHEP-004 cohort

por Pérez, Ana Belén, Chueca, Natalia, Macías, Juan, Pineda, Juan Antonio, Salmerón, Javier, Rivero-Juárez, Antonio, Hidalgo-Tenorio, Carmen, Espinosa, María Dolores, Téllez, Francisco, Von-Wichmann, Miguel Ángel, Omar, Mohamed, Santos, Jesús, Hernández-Quero, José, Antón, José Joaquin, Collado, Antonio, Lozano, Ana Belén, García-Deltoro, Miguel, Casado, Marta, Pascasio, Juan Manuel, Selfa, Aida, Rosales, José Miguel, De la Iglesia, Alberto, Arenas, Juan Ignacio, García-Bujalance, Silvia, Ríos, María José, Bernal, Enrique, Martínez, Onofre, García-Herola, Antonio, Vélez, Mónica, Rincón, Pilar, García, Federico
Publicado 2019

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

por Arteche-López, Ana, Gómez Rodríguez, Maria José, Sánchez Calvin, Maria Teresa, Quesada-Espinosa, Juan Francisco, Lezana Rosales, Jose Miguel, Palma Milla, Carmen, Gómez-Manjón, Irene, Hidalgo Mayoral, Irene, Pérez de la Fuente, Rubén, Díaz de Bustamante, Arancha, Darnaude, María Teresa, Gil-Fournier, Belén, Ramiro León, Soraya, Ramos Gómez, Patricia, Sierra Tomillo, Olalla, Juárez Rufián, Alexandra, Arranz Cano, Maria Isabel, Villares Alonso, Rebeca, Morales-Pérez, Pablo, Segura-Tudela, Alejandro, Camacho, Ana, Nuñez, Noemí, Simón, Rogelio, Moreno-García, Marta, Alvarez-Mora, Maria Isabel
Publicado 2021

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

por Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M. Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A. F.
Publicado 2023