Browsing by Author Balcells Comas, Susana
Showing results 1 to 19 of 19
| Issue Date | Title | Author(s) |
|---|---|---|
| 29-Aug-2018 | Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study | Trajanoska, Katerina; Morris, John A.; Oei, Ling; Zheng, Hou-Feng; Evans, David M.; Kiel, Douglas P.; Ohlsson, Claes; Richards, J. Brent; Rivadeneira, Fernando; GEFOS/GENOMOS consortium; 23andMe research team; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl |
| 20-Sep-2010 | Bases Genètiques de l'Osteoporosi: Estudi del gen "LRP5". | Agueda Calpena, Lídia |
| 2-Mar-2019 | C syndrome - what do we know and what could the future hold? | Urreizti, Roser; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 2022 | Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions | Ovejero, Diana; Garcia-Giralt, Natalia; Rabionet Janssen, Raquel; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Pérez-Jurado, Luis; Nogués, Xavier; Etxebarria Foronda, Iñigo |
| Jan-2020 | DPH1 syndrome: Two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients | Urreizti, Roser; Mayer, Klaus; Evrony, Gilad D.; Said, Edith; Castilla-Vallmanya, Laura; Cody, Neal A.L.; Plasencia, Guillem; Gelb, Bruce D.; Grinberg Vaisman, Daniel Raúl; Brinkmann, Ulrich; Webb, Bryn D.; Balcells Comas, Susana |
| 19-Jul-2013 | Estudio genético de dos fenotipos óseos: osteocondromatosis múltiple y alta masa ósea | Sarrión Pérez-Caballero, Patricia |
| 18-Sep-2007 | Estudis d'associació i funcionals en gens candidats per a l'osteoporosi | Bustamante Pineda, Mariona |
| 10-Feb-2020 | Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum | Urreizti, Roser; López-Martin, Estrella; Martínez-Monseny, Antonio; Pujadas, Montse; Castilla-Vallmanya, Laura; Pérez-Jurado, Luis Alberto; Serrano, Mercedes; Natera de Benito, Daniel; Martínez-Delgado, Beatriz; Posada-de-la-Paz, Manuel; Alonso, Javier; Marin-Reina, Purificación; O'Callaghan, Mar; Grinberg Vaisman, Daniel Raúl; Bermejo-Sánchez, Eva; Balcells Comas, Susana |
| 1-Dec-2018 | Functional characterization of a GGPPS variant indentified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types | Roca Ayats, Neus; Ng, Pei Ying; Garcia Giralt, Natàlia; Falcó-Mascaró, Maite; Cozar, Mónica; Abril Ferrando, Josep Francesc, 1970-; Quesada Gómez, José Manuel; Prieto-Alhambra, Daniel; Nogués Solán, Xavier; Dunford, James E.; Russell, R. Graham; Baron, Roland; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Diez Pérez, Adolfo |
| 5-Dec-2012 | Genetic Polymorphisms of RANK, RANKL and their relation to osteoporosis (Polimorfismos genéticos de RANK y RANKL y su relación con la osteoporosis) | Yoskovitz, Guy |
| 6-Jan-2021 | Genetics and Genomics of SOST: functional analysis of variants and genomic regulation in osteoblasts | Martínez-Gil, Núria; Roca Ayats, Neus; Cozar, Mónica; Garcia Giralt, Natàlia; Ovejero, Diana; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 19-Mar-2002 | Hemocromatosis Hereditaria: estudio del gen HFE y de sus mutaciones en la población española | Sánchez Fernández, María Carmen |
| 18-Nov-2019 | Identification and functional characterization of genetic loci involved in osteoporosis and atypical femoral fracture | Roca Ayats, Neus |
| Apr-2006 | Large-scale evidence for the effect of the COL1A1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study | Ralston, 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-2007 | Mecanismes 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-2015 | MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones | De-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 |
| 3-Nov-2006 | Nuevos mecanismos de tumorgènesis del protooncogén HER2. Implicaciones terapéuticas en cáncer de mama | Anido Folgueira, Judit |
| 2002 | ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins | Tusón Segarra, Miquel; Marfany i Nadal, Gemma; Herrero, Enric; Balcells Comas, Susana; Gonzàlez-Duarte, Roser; Hjelmqvist, Lars |
| May-2022 | Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases | Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Tonda, Raúl; Artuch, Rafael; Gallano, Pia; Garrabou Tornos, Glòria; González, Juan R.; Grinberg Vaisman, Daniel Raúl; Guitart, Míriam; Laurie, Steven; Lázaro, Conxi; Luengo, Critina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfonso; Palau, Francesc; Ribes, Antonio; Pérez-Jurado, Luis A.; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.; Rabionet Janssen, Raquel; Balcells Comas, Susana |