Personas / Equipo Humano

Susana Balcells Comas

Buscador de publicaciones

Publicaciones

  • 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: 14

    [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: 13

    [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]

  • 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. Nº de citas: 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): . Nº de citas: 23

    [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): .

  • Mainou Cid C, García Giralt N, Vilaseca MA, Ferrer I, Meco López JF, Mainou Pintó A, Pintó Sala X, Grinberg-Vaisman DR and Balcells S.

    Hiperhomocistinemia y polimorfismo 677C T de la 5,10-metilenotetrahidrofolato reductasa en hijos de pacientes con enfermedad coronaria prematura.

    Anales espanoles de pediatria . 56(5): 402-408.

  • Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzalez R, Kaplan J, te Meerman GJ, Santos R, Schwartz M, Van Camp G, Wadelius C, Weber BH and Cremers FP.

    The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 10(3): 197-203. Nº de citas: 47

    [doi:10.1038/sj.ejhg.5200784]

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

    Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.

    HUMAN MUTATION . 17(6): 504-510. Nº de citas: 32

    [doi:10.1002/humu.1133]

  • Paloma E, Hjelmqvist L, Bayés M, García-Sandoval B, Ayuso C, Balcells S and Gonzalez R.

    Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE . 41(3): 656-659. Nº de citas: 39