Examinant per Autoria "Balcells, Susana"
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 A roadmap to gene discoveries and novel therapies in monogenic low and high bone mass disorders(Frontiers, 2021) Formosa, Melissa M.; Bergen, Dylan J.M.; Gregson, Celia L.; Maurizi, Antonio; Kämpe, Anders; Garcia Giralt, Natàlia; Zhou, Wei; Grinberg, Daniel; Ovejero Crespo, Diana; Zillikens, M. Carola; Williams, Graham R.; Bassett, J.H. Duncan; Brandi, María Luisa; Sangiorgi, Luca; Balcells, Susana; Högler, Wolfgang; Van Hul, Wim; Mäkitie, Outi
Ítem Accés Obert Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures(BioMed Central, 2024) Garcia Giralt, Natàlia; Ovejero Crespo, Diana; Grinberg, Daniel; Nogués Solan, Francesc Xavier; Castañeda, Santos; Balcells, Susana; Rabionet, Raquel
Ítem Accés Obert Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder(Nature Research, 2022) Domènech Salgado, Laura, 1989-; Willis, Jesse R.; Alemany-Navarro, María; Morell, Marta; Real, Eva; Escaramís, Geòrgia; Bertolín, Sara; Sánchez Chinchilla, Daniel; Balcells, Susana; Segalàs, Cinto; Estivill, Xavier, 1955-; Menchón, José M.; Gabaldón Estevan, Juan Antonio, 1973-; Alonso, Pino; Rabionet, Raquel
Ítem Accés Obert Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density(Nature Research, 2018) Martínez-Gil, Núria; Roca Ayats, Neus; Monistrol-Mula, Anna; García-Giralt, Natalia; Diez-Perez, Adolfo; Nogués Solan, Francesc Xavier; Mellibovsky, Leonardo; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert De novo PORCN and ZIC2 mutations in a highly consanguineous family(MDPI, 2021) Castilla-Vallmanya, Laura; Gürsoy, Semra; Bozkaya, Özlem Giray; Prats-Planas, Aina; Bullich, Gemma; Matalonga, Leslie; Centeno-Pla, Mónica; Rabionet Janssen, Raquel; Grinberg, Daniel; Balcells, Susana; Urreizti, Roser
Ítem Accés Obert Effect of the tumor suppressor miR-320a on viability and functionality of human osteosarcoma cell Llnes compared to primary osteoblasts(MDPI, 2020) Ugarte Corbalán, Laura de, 1988-; Balcells, Susana; Güerri Fernández, Roberto; Grinberg, Daniel; Díez Pérez, Adolfo; Nogués Solan, Francesc Xavier; Garcia Giralt, Natàlia
Ítem Accés Obert Estudio del patrón de expresión de microRNAs en el hueso osteoporótico(Sociedad Española de Investigación Ósea y del Metabolismo Mineral (SEIOMM), 2016) Garcia Giralt, Natàlia; Ugarte Corbalán, Laura de, 1988-; Yoskovitz, Guy; Güerri Fernández, Roberto; Grinberg, Daniel; Nogués Solan, Francesc Xavier; Mellibovsky, Leonardo; Balcells, Susana; Díez Pérez, Adolfo
Ítem Accés Obert Evolutionary and functional analyses of LRP5 in archaic and extant modern humans(BioMed Central, 2024) Roca Ayats, Neus; Maceda Porto, Iago, 1986-; Bruque, Carlos David; Martínez-Gil, Núria; Garcia Giralt, Natàlia; Cozar, Mónica; Mellibovsky, Leonardo; Van Hul, Wim; Lao Grueso, Oscar, 1976-; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert Expression profiling of microRNAs in human bone tissue from postmenopausal women(Springer, 2018) Ugarte Corbalán, Laura de, 1988-; Serra-Vinardell, Jenny; Nonell Mazelon, Lara, 1972-; Balcells, Susana; Arnal, Magdalena; Nogués Solan, Francesc Xavier; Mellibovsky, Leonardo; Grinberg, Daniel; Díez Pérez, Adolfo; Garcia Giralt, Natàlia
Ítem Accés Obert Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum(BioMed Central, 2020) Urreizti, Roser; López Martín, Estrella; Martínez Monseny, Antonio Federico; Pujadas, Montse; Castilla-Vallmanya, Laura; Pérez Jurado, Luis Alberto; Serrano, Mercedes L.; Natera de Benito, Daniel; Martínez Delgado, Beatriz; Posada de la Paz, Manuel; Alonso, Javier; Marín Reina, Purificación; O'Callaghan, Mar; Grinberg, Daniel; Bermejo Sánchez, Eva; Balcells, Susana
Ítem Accés Obert Functional analyses of four CYP1A1 missense mutations present in patients with atypical femoral fractures(MDPI, 2021) Ugartondo, Nerea; Martínez-Gil, Núria; Esteve, Mònica; Garcia Giralt, Natàlia; Roca Ayats, Neus; Ovejero Crespo, Diana; Nogués Solan, Francesc Xavier; Díez Pérez, Adolfo; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert Functional assessment of coding and regulatory variants from the DKK1 locus(Wiley, 2020) Martínez-Gil, Núria; Roca Ayats, Neus; Atalay, Nurgül; Pineda-Moncusí, Marta; Garcia Giralt, Natàlia; Van Hul, Wim; Boudin, Eveline; Ovejero Crespo, Diana; Mellibovsky, Leonardo; Nogués Solan, Francesc Xavier; Diez-Perez, Adolfo; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert Functional characterization of a GGPPS variant identified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types(Wiley, 2018) Roca Ayats, Neus; Ng, Pei Ying; García-Giralt, Natalia; Falcó-Mascaró, Maite; Cozar, Mónica; Abril Ferrando, Josep Francesc; Quesada-Gómez, J.M.; Prieto-Alhambra, Daniel; Nogués Solan, Francesc Xavier; Dunford, James E.; Russell, R. Graham; Baron, Roland; Grinberg, Daniel; Balcells, Susana; Díez Pérez, Adolfo
Ítem Accés Obert Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3(Elsevier, 2019) Roca Ayats, Neus; Martínez-Gil, Núria; Cozar, Mónica; Gerousi, Marina; Garcia Giralt, Natàlia; Ovejero Crespo, Diana; Mellibovsky, Leonardo; Nogués Solan, Francesc Xavier; Díez Pérez, Adolfo; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert Gene network of susceptibility to atypical femoral fractures related to bisphosphonate treatment(MDPI, 2022) Garcia Giralt, Natàlia; Roca Ayats, Neus; Abril Ferrando, Josep Francesc; Martínez-Gil, Núria; Ovejero Crespo, Diana; Castañeda, Santos; Nogués Solan, Francesc Xavier; Grinberg, Daniel; Balcells, Susana; Rabionet, Raquel
Ítem Accés Obert Genetic analysis in a familial case with high bone mineral density suggests additive effects at two loci(Wiley, 2022) Martínez-Gil, Núria; Ovejero Crespo, Diana; Garcia Giralt, Natàlia; Bruque, Carlos David; Mellibovsky, Leonardo; Nogués Solan, Francesc Xavier; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.(BioMed Central, 2015) Ugarte Corbalán, Laura de, 1988-; Yoskovitz, Guy; Balcells, Susana; Güerri Fernández, Roberto; Martinez-Diaz, Santos; Mellibovsky, Leonardo; Urreizti, Roser; Nogués Solan, Francesc Xavier; Grinberg, Daniel; Garcia Giralt, Natàlia; Díez Pérez, Adolfo
Ítem Accés Obert On the association between Chiari malformation type 1, bone mineral density and bone related genes(Elsevier, 2022) Martínez-Gil, Núria; Mellibovsky, Leonardo; Manzano-López González, Demián; Patiño, Juan David; Cozar, Mónica; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana