Persones / Equip Humà

Daniel Raúl Grinberg Vaisman

Buscador de publicacions

Publicacions

  • Formosa MM, Bergen DJM, Gregson CL, Maurizi A, Kämpe A, Garcia-Giralt N, Zhou W, Grinberg-Vaisman DR, Ovejero Crespo D, Zillikens MC, Williams GR, Bassett JHD, Brandi ML, Sangiorgi L, Balcells S, Högler W, Van Hul W and Mäkitie O.

    A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.

    Frontiers in Endocrinology . 12: 709711-709711. Nº de cites: 8

    [doi:10.3389/fendo.2021.709711]

  • Ugartondo N, Martinez-Gil N, Esteve M, Garcia-Giralt N, Roca N, Ovejero D, Nogués X, Díez-Pérez A, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S.

    Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(14): 7395. Nº de cites: 8

    [doi:10.3390/ijms22147395]

  • Griñán-Ferré C, Companys-Alemany J, Jarné-Ferrer J, Codony S, González-Castillo C, Ortuño-Sahagún D, Vilageliu L, Grinberg-Vaisman DR, Vázquez S and Pallàs M.

    Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(7): 3409. Nº de cites: 2

    [doi:10.3390/ijms22073409]

  • Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B, Spanish Exome Crowdsourcing Consortium, Carracedo Á, Alonso Á and Dopazo J.

    CSVS, a crowdsourcing database of the Spanish population genetic variability.

    NUCLEIC ACIDS RESEARCH . 49(D1): 1130-1137. Nº de cites: 34

    [doi:10.1093/nar/gkaa794]

  • Martinez-Gil N, Roca N, Cozar M, Garcia-Giralt N, Ovejero D, Nogués X, Grinberg-Vaisman DR and Balcells S.

    Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(2): 489. Nº de cites: 6

    [doi:10.3390/ijms22020489]

  • Martinez-Gil N, Grinberg-Vaisman DR and Balcells S.

    Search for variants of the LRP4 gene in women with high bone mass and in patients with Chiari type I malformation

    Revista de Osteoporosis y Metabolismo Mineral . 13(1): 17-20.

    [doi:10.4321/S1889-836X2021000100004]

  • Martinez-Gil N, Roca N, Atalay N, Pineda-Moncusí M, Garcia-Giralt N, Van Hul W, Boudin E, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg-Vaisman DR and Balcells S.

    Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus.

    jbmr plus . 4(12): . Nº de cites: 6

    [doi:10.1002/jbm4.10423]

  • Beneto N, Vilageliu L, Grinberg-Vaisman DR and Canals I.

    Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(21): . Nº de cites: 29

    [doi:10.3390/ijms21217819]

  • Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg-Vaisman DR, Mavridou I and Michelakakis H.

    Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

    Molecular genetics and metabolism reports . 24: 100614-100614. Nº de cites: 10

    [doi:10.1016/j.ymgmr.2020.100614]

  • Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.

    Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de cites: 13

    [doi:10.1016/j.jmoldx.2020.06.008]