Collaborators
Sign in to add collaborator| Josep F Abril | collaborator | ||
| Daniel Grinberg | collaborator | 1990- | Universitat de Barcelona |
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Publications
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| Mason S, Castilla-Vallmanya L, James C, et al. (2019) Case report of a child bearing a novel deleterious splicing variant in PIGT. Medicine. 98: e14524 |
| De-Ugarte L, Balcells S, Nogues X, et al. (2018) Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress. Plos One. 13: e0208131 |
| Roca-Ayats N, Ng PY, Garcia-Giralt N, et al. (2018) Functional characterization of a GGPPS variant identified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research |
| Urreizti R, Gürsoy S, Castilla-Vallmanya L, et al. (2018) The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. Clinical Case Reports. 6: 1452-1456 |
| Martínez-Gil N, Roca-Ayats N, Monistrol-Mula A, et al. (2018) Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density. Scientific Reports. 8: 10951 |
| Urreizti R, Damanti S, Esteve C, et al. (2018) A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. Scientific Reports. 8: 694 |
| De-Ugarte L, Serra-Vinardell J, Nonell L, et al. (2018) Expression profiling of microRNAs in human bone tissue from postmenopausal women. Human Cell. 31: 33-41 |
| De-Ugarte L, Yoskovitz G, Balcells S, et al. (2017) Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones. Bmc Medical Genomics. 10: 36 |
| Roca-Ayats N, Balcells S, Garcia-Giralt N, et al. (2017) GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. The New England Journal of Medicine. 376: 1794-1795 |
| Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, et al. (2017) A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Scientific Reports. 7: 44138 |