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Susana Balcells Comas

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Publications

  • 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: 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. 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]

  • 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. Number of citations: 40

    [doi:10.1006/geno.1996.4528]

  • Bayés M, Martínez-Mir A, Valverde D, del Río E, Vilageliu L, Grinberg-Vaisman DR, Balcells S, Ayuso C, Baiget M and Gonzalez R.

    Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease.

    CLINICAL GENETICS . 50(5): 380-387. Number of citations: 14

  • Chabás A, Cormand B, Balcells S, Gonzalez R, Casanova C, Colomer J, Vilageliu L and Grinberg-Vaisman DR.

    Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain.

    JOURNAL OF INHERITED METABOLIC DISEASE . 19(6): 798-800. Number of citations: 15

    [doi:10.1007/BF01799179]