Examinant per Autoria "Cormand, Bru"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A de novo FOXP1 truncating mutation in a patient originally diagnosed as C syndrome(Nature Research, 2018) Urreizti, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla-Vallmanya, Laura; Tonda, Raúl; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes(Nature Publishing Group, 2017) Urreizti, Roser; Cueto González, Anna María; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort, Magda; Hecht, Jochen; Tizzano, Eduardo F.; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert Active and passive MDMA ('ecstasy') intake induces differential transcriptional changes in the mouse brain(Wiley-Blackwell, 2012) Fernández Castillo, Noelia; Orejarena Serrano, María-Juliana, 1980-; Ribasés, Marta; Casas, Miguel; Robledo, Patricia, 1958-; Maldonado, Rafael, 1961-; Cormand, Bru
Ítem Accés Obert Differential expression of miR-1249-3p and miR-34b-5p between vulnerable and resilient phenotypes of cocaine addiction(Wiley, 2022) Domingo Rodriguez, Laura, 1992-; Cabana-Domínguez, Judit; Fernàndez-Castillo, Noèlia; Cormand, Bru; Martín García, Elena, 1975-; Maldonado, Rafael, 1961-
Ítem Accés Obert Exploring the contribution to ADHD of genes involved in Mendelian disorders presenting with hyperactivity and/or inattention(MDPI, 2021) Fernàndez-Castillo, Noèlia; Cabana-Domínguez, Judit; Kappel, Djenifer B.; Torrico, Bàrbara; Weber, Keike; Lesch, Klaus-Peter; Lao Grueso, Oscar, 1976-; Reif, Andreas; Cormand, Bru
Ítem Accés Obert Frustrated expected reward induces differential transcriptional changes in the mouse brain(Wiley, 2015) Martín García, Elena, 1975-; Fernández Castillo, Noelia; Burokas, Aurelijus, 1982-; Gutiérrez Cuesta, Javier; Sánchez-Mora, Cristina; Casas, Miguel; Ribasés, Marta; Cormand, Bru; Maldonado, Rafael, 1961-
Ítem Accés Obert Fusion of the human gene for the polyubiquitination co-effector UEV-1 with Kua, a newly identified gene(Cold Spring Harbor Laboratory Press-CSHL Press, 2000) Thomson, Timothy M.; Lozano, Juan José; Loukili, Noureddine; Carrió, Roberto; Serras Rigalt, Florenci; Cormand, Bru; Valeri, Marta; Díaz, Víctor M.; Abril Ferrando, Josep Francesc; Burset Albareda, Moisès; Merino, Jesús; Macaya, Alfons; Corominas Guiu, Montserrat; Guigó Serra, Roderic
Ítem Accés Obert Gene-wide association study reveals RNF122 ubiquitin ligase as a novel susceptibility gene for attention deficit hyperactivity disorder(Nature Publishing Group, 2017) Garcia Martínez, Iris; Sánchez-Mora, Cristina; Soler Artigas, María; Rovira, Paula; Pagerols, Mireia; Corrales, Montse; Calvo Sánchez, Eva; Richarte, Vanesa; Bustamante Pineda, Mariona; Sunyer Deu, Jordi; Cormand, Bru; Casas, Miguel; Ramos Quiroga, Josep Antoni; Ribasés, Marta
Ítem Accés Obert Genomic analysis of the natural history of attention-deficit/hyperactivity disorder using Neanderthal and ancient Homo sapiens samples(Nature Research, 2020) Esteller Cucala, Paula; Maceda Porto, Iago, 1986-; Børglum, Anders D.; Demontis, Ditte; Faraone, Stephen V.; Cormand, Bru; Lao Grueso, Oscar, 1976-
Ítem Accés Obert Gut microbiota signatures of vulnerability to food addiction in mice and humans(BMJ Publishing Group, 2024) Samulenaite, Solveiga; García Blanco, Alejandra; Mayneris Perxachs, Jordi; Domingo Rodriguez, Laura, 1992-; Cabana-Domínguez, Judit; Fernàndez-Castillo, Noèlia; Gago-García, Edurne; Pineda-Cirera, Laura; Burokas, Aurelijus, 1982-; Espinosa-Carrasco, José; Arboleya, Silvia; Latorre, Jessica; Stanton, Catherine; Hosomi, Koji; Kunisawa, Jun; Cormand, Bru; Fernández Real, Jose M.; Maldonado, Rafael, 1961-; Martín García, Elena, 1975-
Ítem Accés Obert miRNA signatures associated with vulnerability to food addiction in mice and humans(American Society for Clinical Investigation, 2022) García Blanco, Alejandra; Domingo Rodriguez, Laura, 1992-; Cabana-Domínguez, Judit; Fernández-Castillo, Noèlia; Pineda-Cirera, Laura; Mayneris Perxachs, Jordi; Burokas, Aurelijus, 1982-; Espinosa-Carrasco, José; Arboleya, Silvia; Latorre, Jessica; Stanton, Catherine; Cormand, Bru; Fernández Real, Jose M.; Martín-García, Elena; Maldonado, Rafael, 1961-
Ítem Accés Obert Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia(Nature Publishing Group, 2017) Sintas, Cèlia; Carreño, Oriel; Fernández Castillo, Noelia; Corominas, Roser; Vila Pueyo, Marta; Toma, Claudio; Cuenca-León, Ester; Barroeta, Isabel; Roig, Carles; Volpini, Victor; Macaya, Alfons; Cormand, Bru
Ítem Accés Obert Novel candidate genes and a wide spectrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing(Public Library of Science (PLoS), 2016) de Castro-Miró, Marta; Tonda, Raúl; Escudero-Ferruz, Paula; Andrés, Rosa; Mayor-Lorenzo, Andrés; Castro, Joaquín; Ciccioli, Marcela; Hidalgo, Daniel A.; Rodríguez-Ezcurra, Juan José; Farrando, Jorge; Pérez-Santonja, Juan J.; Cormand, Bru; Marfany, Gemma; Gonzàlez-Duarte, Roser
Ítem Accés Obert Pleiotropic contribution of rbfox1 to psychiatric and neurodevelopmental phenotypes in two zebrafish models(Nature Research, 2024) Antón Galindo, Ester; Adel, Maja R.; García González, Judit; Leggieri, Adele; López Blanch, Laura; Irimia Martínez, Manuel; Norton, William H. J.; Brennan, Caroline H.; Fernàndez-Castillo, Noèlia; Cormand, Bru
Ítem Accés Obert Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies(Wiley, 2013) Carreño, Oriel; Corominas, Roser; Serra Pascual, Selma A., 1981-; Sintas, Cèlia; Fernández Castillo, Noelia; Vila Pueyo, Marta; Toma, Claudio; Gené, Gemma; Pons, Roser; Llaneza, Miguel; Sobrido, María Jesús; Grinberg, Daniel; Valverde, M. A. (Miguel Ángel), 1963-; Fernández-Fernández, José Manuel, 1967-; Macaya, Alfons; Cormand, Bru