Personas / Equipo Humano

Susana Balcells Comas

Buscador de publicaciones

Publicaciones

  • Urreizti R, Cueto-Gonzalez, Ana Maria, Franco-Valls, Héctor, Mort-Farre, Silvia, Roca N, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio M, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo, Cormand B, Vilageliu L, Opitz, John, Neri, Giovanni, Grinberg-Vaisman DR and Balcells S.

    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: 44138-44138. Nº de citas: 27

    [doi:10.1038/srep44138]

  • Urreizti R, Roca N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S and Grinberg-Vaisman DR.

    Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 170A(1): 24-31. Nº de citas: 11

    [doi:10.1002/ajmg.a.37418]

  • De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg-Vaisman DR, García-Giralt N and Díez-Pérez A.

    MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.

    BMC MEDICAL GENOMICS . 8: 75-75. Nº de citas: 73

    [doi:10.1186/s12920-015-0149-2]

  • 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. Nº de citas: 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. Nº de citas: 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): . Nº de citas: 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 21

    [doi:10.7150/ijms.2.58]