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Susana Balcells Comas

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Publications

  • 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): .

  • 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. Number of citations: 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. Number of citations: 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. Number of citations: 38

  • Bayés M, Goldaracena B, Martínez-Mir A, Iragui-Madoz MI, Solans T, Chivelet P, Bussaglia E, Ramos-Arroyo MA, Baiget M, Vilageliu L, Balcells S, Gonzalez R and Grinberg-Vaisman DR.

    A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

    JOURNAL OF MEDICAL GENETICS . 35(2): 141-145. Number of citations: 29

    [doi:10.1136/jmg.35.2.141]

  • Martínez-Mir A, Vilela C, Bayés M, Valverde D, Dain L, Beneyto M, Marco M, Baiget M, Grinberg-Vaisman DR, Balcells S, Gonzalez R and Vilageliu L.

    Putative association of a mutant ROM1 allele with retinitis pigmentosa.

    HUMAN GENETICS . 99(6): 827-830. Number of citations: 9

    [doi:10.1007/s004390050456]