Daniel Grinberg

Affiliations: 
Universitat de Barcelona, Barcelona, Cataluña, Spain 
Area:
Human molecular genetics
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"Daniel Grinberg"
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Publications

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Castilla-Vallmanya L, Centeno-Pla M, Serrano M, et al. (2022) Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. Journal of Medical Genetics
Ovejero D, Garcia-Giralt N, Martínez-Gil N, et al. (2022) Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions. Bone. 161: 116450
López-Márquez A, Morín M, Fernández-Peñalver S, et al. (2022) CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts. International Journal of Molecular Sciences. 23
Martínez-Gil N, Ovejero D, Garcia-Giralt N, et al. (2022) Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci. Jbmr Plus. 6: e10602
Martínez-Gil N, Mellibovsky L, Manzano-López González D, et al. (2022) On the association between Chiari malformation type 1, bone mineral density and bone related genes. Bone Reports. 16: 101181
Andrade I, Ribeiro R, Carneiro ZA, et al. (2022) Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report. Journal of Medical Case Reports. 16: 46
Garcia-Giralt N, Roca-Ayats N, Abril JF, et al. (2022) Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment. Genes. 13
Martínez-Gil N, Ugartondo N, Grinberg D, et al. (2022) Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis. Genes. 13
Formosa MM, Bergen DJM, Gregson CL, et al. (2021) A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders. Frontiers in Endocrinology. 12: 709711
Ugartondo N, Martínez-Gil N, Esteve M, et al. (2021) Functional Analyses of Four Missense Mutations Present in Patients with Atypical Femoral Fractures. International Journal of Molecular Sciences. 22
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