Browsing by Author Balcells Comas, Susana

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Issue DateTitleAuthor(s)
1-Jan-2022Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate TreatmentGarcia Giralt, Natàlia; Roca Ayats, Neus; Abril Ferrando, Josep Francesc, 1970-; Martínez-Gil, Núria; Ovejero, Diana; Castañeda, Santos; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Rabionet Janssen, Raquel
2022Genetic analysis in a familial case with high bone mineral density suggests additive effects at two lociMartínez-Gil, Núria; Ovejero, Diana; Garcia Giralt, Natàlia; Bruque, Carlos David; Mellibovsky, Leonardo; Nogués, Xavier; Rabionet Janssen, Raquel; 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; Mellibovsky, Leonardo; Urreizti, Roser; Civit Vives, Sergi; Cols Coll, Neus; Garcia Giralt, Natàlia; Yoskovitz, Guy; Aranguren, Alvaro; Malouf, Jorge; Di Gregorio, Silvana; Río, Luis del; Güerri-Fernández, Robert; Nogués Solán, Xavier; Díez 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
1-Nov-2018Genetic study of atypical femoral fractures using exome sequencing in three affected sisters and three unrelated patientsRoca Ayats, Neus; Falcó-Mascaró, Maite; Garcia Giralt, Natàlia; Cozar, Mónica; Abril Ferrando, Josep Francesc, 1970-; Quesada Gómez, José Manuel; Prieto-Alhambra, Daniel; Nogués Solán, Xavier; Mellibovsky, Leonardo; Diez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
6-Jan-2021Genetics and Genomics of SOST: functional analysis of variants and genomic regulation in osteoblastsMartínez-Gil, Núria; Roca Ayats, Neus; Cozar, Mónica; Garcia Giralt, Natàlia; Ovejero, Diana; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
15-Apr-2012Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fractureBalcells Comas, Susana; Urreizti, Roser
4-May-2017GGPS1 Mutation and Atypical Femoral Fractures with BisphosphonatesRoca Ayats, Neus; Balcells Comas, Susana; Garcia Giralt, Natàlia; Falcó-Mascaró, Maite; Martinez-Gil, Nuria; Abril Ferrando, Josep Francesc, 1970-; Urreizti, Roser; Dopazo, Joaquin; Quesada Gómez, José Manuel; Nogués Solán, Xavier; Mellibovsky, Leonardo; Prieto-Alhambra, Daniel; Dunford, James E.; Javaid, Muhammad K.; Russell, R. Graham; Grinberg Vaisman, Daniel Raúl; Diez Pérez, Adolfo
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, Mónica; Urreizti, 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
18-Nov-2019Identification and functional characterization of genetic loci involved in osteoporosis and atypical femoral fractureRoca Ayats, Neus
1-Sep-2020Improved diagnosis of rare disease patients through systematic detection of runs of homozygosityMatalonga Borrel, Lesley; Laurie, Steven; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis; Riess, Olaf; Gut, Ivo; van Ommen, Gert Jan; Lochmüller, Hanns; Beltrán, Sergi; RD-Connect Genome-Phenome Analysis Platform and UR; Cormand Rifà, Bru; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser; Garrabou Tornos, Glòria
2021La variante missensers2908004 de WNT16 actúa como eQTL de FAM3C en osteoblastos primarios humanosMartínez-Gil, Núria; Patiño, Juan David; Ugartondo Asensio, Nerea; 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.; Díez 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, Roser; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Garcia Giralt, Natàlia; Díez Pérez, Adolfo
1988Modulation of transcription of sea urchin histone genes by a nuclear protein fraction: studies on the specificity of this activity using the amphibian oocyte microinjection assayBalcells Comas, Susana
26-Feb-2013Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromasSarrión Pérez-Caballero, Patricia; Sangorrin, A.; Urreizti, Roser; Delgado, A.; Artuch Iriberri, Rafael; Martorell, L.; Armstrong i Morón, Judith; Antón López, Jordi; Torner Rubies, Ferran; Vilaseca, M. A.; Nevado, J.; Lapunzina, Pablo; Asteggiano, Carla; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl
3-Nov-2006Nuevos mecanismos de tumorgènesis del protooncogén HER2. Implicaciones terapéuticas en cáncer de mamaAnido Folgueira, Judit
Jun-2022On the association between Chiari malformation type 1, bone mineral density and bone related genesMartínez-Gil, Núria; Mellibovsky, Leonardo; Manzano-López González, Demián.; Patiño, Juan David; Cozar, Mónica; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana