Persones / Equip Humà

Susana Balcells Comas

Buscador de publicacions

Publicacions

  • 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 cites: 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 cites: 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. Nº de cites: 46

    [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 cites: 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 cites: 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. Nº de cites: 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. Nº de cites: 9

    [doi:10.1007/s004390050456]

  • Martínez-Mir A, Bayés M, Vilageliu L, Grinberg-Vaisman DR, Ayuso C, del Río T, García-Sandoval B, Bussaglia E, Baiget M, Gonzalez R and Balcells S.

    A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21.

    Genomics . 40(1): 142-146. Nº de cites: 40

    [doi:10.1006/geno.1996.4528]