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Publications

  • Rodríguez-Sanz M, García-Giralt N, Prieto-Alhambra D, Servitja S, Balcells S, Pecorelli R, Díez-Pérez A, Grinberg-Vaisman DR, Tusquets I and Nogués X.

    CYP11A1 expression in bone is associated with aromatase inhibitor-related bone loss.

    J MOL ENDOCRINOL . 55(1): 69-79. Number of citations: 22

    [doi:10.1530/JME-15-0079]

  • Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, Segura F, de Kremer RD, Balcells S, Grinberg-Vaisman DR and Asteggiano CG.

    A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

    SCIENTIFIC REPORTS . 4: 6407-6407. Number of citations: 14

    [doi:10.1038/srep06407]

  • Sarrión P, Mellibovsky L, Urreizti R, Civit S, Cols N, García-Giralt N, Yoskovitz G, Aranguren A, Malouf J, Di Gregorio S, Río LD, Güerri R, Nogués X, Díez-Pérez A, Grinberg-Vaisman DR and Balcells S.

    Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women.

    PLoS One . 9(4): . Number of citations: 15

    [doi:10.1371/journal.pone.0094607]

  • Urreizti R, Garcia-Giralt N, Riancho JA, González-Macías J, Civit S, Güerri R, Yoskovitz G, Sarrion P, Mellivobsky L, Díez-Pérez A, Nogués X, Balcells S and Grinberg-Vaisman DR.

    COL1A1 haplotypes and hip fracture.

    JOURNAL OF BONE AND MINERAL RESEARCH . 27(4): 950-953. Number of citations: 18

    [doi:10.1002/jbmr.1536]

  • Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg-Vaisman DR and Balcells S.

    Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

    HUMAN MUTATION . 32(7): 835-842. Number of citations: 13

    [doi:10.1002/humu.21514]

  • Agueda L, Velázquez-Cruz R, Urreizti R, Yoskovitz G, Sarrión P, Jurado S, Güerri R, Garcia-Giralt N, Nogués X, Mellibovsky L, Díez-Pérez A, Marie PJ, Balcells S and Grinberg-Vaisman DR.

    Functional relevance of the BMD-associated polymorphism rs312009: novel involvement of RUNX2 in LRP5 transcriptional regulation.

    JOURNAL OF BONE AND MINERAL RESEARCH . 26(5): 1133-1144. Number of citations: 12

    [doi:10.1002/jbmr.293]

  • Pintó X, Vilaseca MA, Balcells S, Artuch-Iriberri R, Corbella E, Meco JF, Vila R, Pujol R and Grinberg-Vaisman DR.

    A folate-rich diet is as effective as folic acid from supplements in decreasing plasma homocysteine concentrations.

    INTERNATIONAL JOURNAL OF MEDICAL SCIENCES . 2(2): 58-63. Number of citations: 21

    [doi:10.7150/ijms.2.58]

  • Paloma E, Coco R, Martínez-Mir A, Vilageliu L, Balcells S and Gonzalez R.

    Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

    HUMAN MUTATION . 20(6): 476-476. Number of citations: 16

    [doi:10.1002/humu.9086]

  • Paloma E, Martínez-Mir A, García-Sandoval B, Ayuso C, Vilageliu L, Gonzalez R and Balcells S.

    Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.

    JOURNAL OF MEDICAL GENETICS . 39(10): . Number of citations: 22

    [doi:10.1136/jmg.39.10.e66]

  • Hjelmqvist L, Tuson M, Marfany G, Herrero E, Balcells S and Gonzalez R.

    ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins.

    Genome Biology . 3(6): .