Persones / Equip Humà

Susana Balcells Comas

Buscador de publicacions

Publicacions

  • 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: 41

    [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. Nº de cites: 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. Nº de cites: 15

    [doi:10.1007/BF01799179]

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

    Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.

    HUMAN MUTATION . 7(3): 272-274.

    [doi:10.1002/(SICI)1098-1004(1996)7:3272::AID-HUMU143.0.CO;2-#]

  • Valverde D, Solans T, Grinberg-Vaisman DR, Balcells S, Vilageliu L, Bayés M, Chivelet P, Besmond C, Goossens M, Gonzalez R and Baiget M.

    A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.

    HUMAN GENETICS . 97(1): 35-38. Nº de cites: 22

  • Chabás A, Cormand B, Grinberg-Vaisman DR, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzalez R and Vilageliu L.

    Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

    JOURNAL OF MEDICAL GENETICS . 32(9): 740-742. Nº de cites: 95

    [doi:10.1136/jmg.32.9.740]

  • Bayés M, Valverde D, Balcells S, Grinberg-Vaisman DR, Vilageliu L, Benítez J, Ayuso C, Beneyto M, Baiget M and Gonzalez R.

    Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families.

    HUMAN GENETICS . 96(1): 89-94. Nº de cites: 19

    [doi:10.1007/BF00214192]

  • Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzalez R, Grinberg-Vaisman DR and Chabás A.

    Gaucher disease in Spanish patients: analysis of eight mutations.

    HUMAN MUTATION . 5(4): 303-309. Nº de cites: 47

    [doi:10.1002/humu.1380050406]

  • Valverde D, Bayés M, Martínez I, Grinberg-Vaisman DR, Vilageliu L, Balcells S, Gonzalez R and Baiget M.

    Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172.

    HUMAN GENETICS . 94(2): 193-194. Nº de cites: 7

    [doi:10.1007/BF00202869]

  • Chabás A, Castellvi S, Bayés M, Balcells S, Grinberg-Vaisman DR, Vilageliu L, Marfany G, Lissens W and Gonzalez R.

    Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population.

    CLINICAL GENETICS . 44(6): 320-323. Nº de cites: 19

    [doi:10.1111/j.1399-0004.1993.tb03908.x]