Bone development and remodeling in metabolic disorders
Serra‐Vinardell, Jenny, Roca‐Ayats, Neus, De‐Ugarte, Laura, Vilageliu, Lluïsa, Balcells, Susanna, Grinberg, Daniel
Published in Journal of inherited metabolic disease (01.01.2020)
Published in Journal of inherited metabolic disease (01.01.2020)
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Journal Article
Functional Characterization of a GGPPS Variant Identified 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, Josep Francesc, Quesada Gómez, José Manuel, Prieto‐Alhambra, Daniel, Nogués, Xavier, Dunford, James E, Russell, R Graham, Baron, Roland, Grinberg, Daniel, Balcells, Susana, Díez‐Pérez, Adolfo
Published in Journal of bone and mineral research (01.12.2018)
Published in Journal of bone and mineral research (01.12.2018)
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Journal Article
Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus
Martínez‐Gil, Núria, Roca‐Ayats, Neus, Atalay, Nurgül, Pineda‐Moncusí, Marta, Garcia‐Giralt, Natàlia, Van Hul, Wim, Boudin, Eveline, Ovejero, Diana, Mellibovsky, Leonardo, Nogués, Xavier, Díez‐Pérez, Adolfo, Grinberg, Daniel, Balcells, Susanna
Published in JBMR plus (01.12.2020)
Published in JBMR plus (01.12.2020)
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Journal Article
Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures
Ugartondo, Nerea, Martínez-Gil, Núria, Esteve, Mònica, Garcia-Giralt, Natàlia, Roca-Ayats, Neus, Ovejero, Diana, Nogués, Xavier, Díez-Pérez, Adolfo, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna
Published in International journal of molecular sciences (09.07.2021)
Published in International journal of molecular sciences (09.07.2021)
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Journal Article
Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3
Roca-Ayats, Neus, Martínez-Gil, Núria, Cozar, Mónica, Gerousi, Marina, Garcia-Giralt, Natàlia, Ovejero, Diana, Mellibovsky, Leonardo, Nogués, Xavier, Díez-Pérez, Adolfo, Grinberg, Daniel, Balcells, Susanna
Published in Bone (New York, N.Y.) (01.06.2019)
Published in Bone (New York, N.Y.) (01.06.2019)
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Journal Article
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans
Roca-Ayats, Neus, Maceda, Iago, Bruque, Carlos David, Martínez-Gil, Núria, Garcia-Giralt, Natàlia, Cozar, Mónica, Mellibovsky, Leonardo, Van Hul, Wim, Lao, Oscar, Grinberg, Daniel, Balcells, Susanna
Published in Human genomics (27.05.2024)
Published in Human genomics (27.05.2024)
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Journal Article
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, Xavier, Grinberg, Daniel, Balcells, Susanna
Published in International journal of molecular sciences (06.01.2021)
Published in International journal of molecular sciences (06.01.2021)
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Journal Article
Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density
Martínez-Gil, Núria, Roca-Ayats, Neus, Monistrol-Mula, Anna, García-Giralt, Natàlia, Díez-Pérez, Adolfo, Nogués, Xavier, Mellibovsky, Leonardo, Grinberg, Daniel, Balcells, Susana
Published in Scientific reports (19.07.2018)
Published in Scientific reports (19.07.2018)
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Journal Article
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes
Urreizti, 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, Bru, Vilageliu, Lluïsa, Opitz, John M, Neri, Giovanni, Grinberg, Daniel, Balcells, Susana
Published in Scientific reports (10.03.2017)
Published in Scientific reports (10.03.2017)
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Journal Article
Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment
Garcia-Giralt, Natalia, Roca-Ayats, Neus, Abril, Josep F, Martinez-Gil, Nuria, Ovejero, Diana, Castañeda, Santos, Nogues, Xavier, Grinberg, Daniel, Balcells, Susanna, Rabionet, Raquel
Published in Genes (14.01.2022)
Published in Genes (14.01.2022)
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Journal Article
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes
Urreizti, Roser, Roca-Ayats, Neus, Trepat, Judith, Garcia-Garcia, Francisco, Aleman, Alejandro, Orteschi, Daniela, Marangi, Giuseppe, Neri, Giovanni, Opitz, John M., Dopazo, Joaquin, Cormand, Bru, Vilageliu, Lluïsa, Balcells, Susana, Grinberg, Daniel
Published in American journal of medical genetics. Part A (01.01.2016)
Published in American journal of medical genetics. Part A (01.01.2016)
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Journal Article
Functional assessment of coding and regulatory variants from the DKK1 locus
Martínez-Gil, Núria, Roca-Ayats, Neus, Atalay, Nurgül, Pineda-Moncusí, Marta, Garcia-Giralt, Natàlia, Van Hul, Wim, Boudin, Eveline, Vives, Sergi, Vinardell, Mireia, Mellibovsky, Leonardo, Nogués, Xavier, Ovejero, Diana, Díez-Pérez, Adolfo, Grinberg, Daniel, Balcells, Susanna
Published in Bone Reports (01.10.2020)
Published in Bone Reports (01.10.2020)
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Journal Article
GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates
Roca-Ayats, Neus, Balcells, Susana, Garcia-Giralt, Natàlia, Falcó-Mascaró, Maite, Martínez-Gil, Núria, Abril, Josep F, Urreizti, Roser, Dopazo, Joaquín, Quesada-Gómez, José M, Nogués, Xavier, Mellibovsky, Leonardo, Prieto-Alhambra, Daniel, Dunford, James E, Javaid, Muhammad K, Russell, R. Graham, Grinberg, Daniel, Díez-Pérez, Adolfo
Published in The New England journal of medicine (04.05.2017)
Published in The New England journal of medicine (04.05.2017)
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Journal Article
GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates: Letter
Roca-Ayats Neus, Balcells Susana, Garcia-Giralt, Natàlia, Falcó-Mascaró Maite, Martínez-Gil, Núria, Abril, Josep F, Urreizti Roser, Dopazo Joaquín, Quesada-Gómez, José M, Nogués Xavier, Mellibovsky Leonardo, Prieto-Alhambra, Daniel, Dunford, James E, Javaid, Muhammad K, Graham, Russell R, Grinberg, Daniel, Díez-Pérez Adolfo
Published in The New England journal of medicine (04.05.2017)
Published in The New England journal of medicine (04.05.2017)
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Journal Article
A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromes
Urreizti 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
Published in Scientific reports (10.03.2017)
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Published in Scientific reports (10.03.2017)
Journal Article
A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes
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
Published in Scientific reports (2017)
Published in Scientific reports (2017)
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Journal Article
Search for BMD-related variants of DKK1 and SOST by resequencing in the BARCOS cohort
Martinez-Gil, Nuria, Roca-Ayats, Neus, Urreizti, Roser, Franco-Valls, Hector, Garcia-Giralt, Natalia, Mellibovsky, Leonardo, Nogues, Xavier, Diez-Perez, Adolfo, Grinberg, Daniel, Balcells, Susana
Published in Bone Abstracts (21.04.2016)
Published in Bone Abstracts (21.04.2016)
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Journal Article
GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates
Roca-Ayats, Neus, Balcells, Susana, Garcia-Giralt, Natàlia, Falcó-Mascaró, Maite, Martínez-Gil, Núria, Abril, Josep F, Urreizti, Roser, Dopazo, Joaquín, Quesada-Gómez, José M, Nogués, Xavier, Mellibovsky, Leonardo, Prieto-Alhambra, Daniel, Dunford, James E, Javaid, Muhammad K, Russell, R Graham, Grinberg, Daniel, Díez-Pérez, Adolfo
Published in The New England journal of medicine (04.05.2017)
Published in The New England journal of medicine (04.05.2017)
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