Browsing by Author Balcells Comas, Susana

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Issue DateTitleAuthor(s)
18-Sep-2014A broad spectrum of genomic changes in Latinamerican patients with EXT1/EXT2-CDGDelgado, M. A.; Martinez-Domenech, G.; Sarrión, P.; Urreizti Frexedas, Roser; Zecchini, L.; Robledo, H. H.; Segura, F.; Dodelson, R.; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Asteggiano, Carla
12-Jan-2018A de novo FOXP1 truncating mutation in a patient originally diagnosed as C SyndromeUrreizti Frexedas, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla Vallmanya, Laura; Tonda, Raul; Cormand Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
10-Mar-2017A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromesUrreizti Frexedas, Roser; Cueto Gonzalez, Anna Maria; 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 Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
20-Sep-2010Bases Genètiques de l'Osteoporosi: Estudi del gen "LRP5".Agueda Calpena, Lídia
10-Nov-2015Caracterització funcional de dBigH1: la variant germinal i embrionària d'histona H1 a DrosophilaPérez Montero, Salvador
19-Jul-2018Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral densityMartínez-Gil, N.; Roca Ayats, Neus; Monistrol-Mula, A.; Garcia Giralt, Natàlia; Díez-Pérez, A.; Nogúes, X.; Mellibovsky, L.; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
19-Jul-2013Estudio genético de dos fenotipos óseos: osteocondromatosis múltiple y alta masa óseaSarrión Pérez-Caballero, Patricia
18-Sep-2007Estudis d'associació i funcionals en gens candidats per a l'osteoporosiBustamante Pineda, Mariona
18-Sep-2017Functional analyses of candidate genes for osteoporosis : RUNX2 and LRP5 interplay during differentiation of the hFOB human osteoblast cell lineGholami, Behjat
14-Mar-2019Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3.Roca Ayats, Neus; MartínezGil, Núria; Cozar, Mónica; Gerousi, Marina; Garcia-Giralt, Natàlia; Ovejero, Diana; Mellibovsky, Leonardo; Nogués, Xavier; Díez-Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
15-Apr-2014Genetic analysis of high bone mass cases from the BARCOS cohort of spanish postmenopausal womenSarrión Pérez-Caballero, Patricia; Mellivobsky, Leonardo; Urreizti Frexedas, Roser; Civit Vives, Sergi; Cols Coll, Neus; Garcia Giralt, Natàlia; Yoskovitz, Guy; Aranguren, Alvaro; Malouf, Jorge; Di Gregorio, Silvana; Río y Lara, Luis del; Güerri, Roberto; Nogués Solán, Xavier; Diez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
5-Dec-2012Genetic Polymorphisms of RANK, RANKL and their relation to osteoporosis (Polimorfismos genéticos de RANK y RANKL y su relación con la osteoporosis)Yoskovitz, Guy
15-Apr-2012Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fractureBalcells Comas, Susana; Urreizti Frexedas, Roser
19-Mar-2002Hemocromatosis Hereditaria: estudio del gen HFE y de sus mutaciones en la población españolaSánchez Fernández, María Carmen
21-Apr-2011Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patientsCozar, Monica; Urreizti Frexedas, Roser; Vilarinho, Laura; Grosso, Carola; Dodelson de Kremer, Raquel; Asteggiano, Carla; Dalmau Obrador, Josep; García, Ana; Vilaseca, María; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
Apr-2006Large-scale evidence for the effect of the COL1A1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS studyRalston, Stuart H.; Uitterlinden, André G.; Brandi, Maria Luisa; Balcells Comas, Susana; Langdahl, Bente L.; Lips, Paul; Lorenc, Roman; Obermayer-Pietsch, Barbara; Scollen, Serena; Bustamante Pineda, Mariona; Bjerre Husted, Lise; Carey, Alisoun H.; Diez Pérez, Adolfo; Dunning, Alison M.; Falchetti, Alberto; Karczmarewicz, Elzbieta; Kruk, Marcin
27-Jul-2007Mecanismes de regulació transcripcional del gen que codifica per la "Kidney-Androgen Regulated Protein" (KAP) en relació a la seva especificitat de teixit i control hormonal.Teixidó i Travesa, Neus
10-Nov-2015MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bonesDe-Ugarte, Laura; Yoskovitz, Guy; Balcells Comas, Susana; Güerri-Fernández, Robert; Martínez-Díaz, Santos; Mellibovsky, Leonardo; Urreizti Frexedas, Roser; Nogués, Xavier; Grinberg Vaisman, Daniel Raúl; Garcia Giralt, Natàlia; Diez Pérez, Adolfo
26-Feb-2013Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromasSarrión Pérez-Caballero, Patricia; Sangorrin, A.; Urreizti Frexedas, Roser; Delgado, A.; Artuch, R.; Martorell, L.; Armstrong, J.; Antón López, Jordi; Torner Rubies, Ferran; Vilaseca, M.A.; Nevado, J.; Lapunzina, P.; Asteggiano, Carla; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl
26-Feb-2013Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromasSarrión Pérez-Caballero, Patricia; Sangorrin, A.; Urreizti Frexedas, Roser; Delgado, A.; Artuch Iriberri, Rafael; Martorell, L.; Armstrong i Morón, Judith; Antón López, Jordi; Torner Rubies, Ferran; Vilaseca, M. A.; Nevado, J.; Lapunzina, P.; Asteggiano, Carla; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl