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Susana Balcells Comas

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Publications

  • 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. Number of citations: 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. Number of citations: 91

    [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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 19

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

  • Cobo A, Grinberg-Vaisman DR, Balcells S, Vilageliu L, Gonzalez R and Baiget M.

    Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population.

    HUMAN GENETICS . 89(3): 287-291. Number of citations: 6

    [doi:10.1007/BF00220541]

  • Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny T, Casas-Alba D, Grinberg-Vaisman DR, Balcells S, Serrano M, Rabionet-Janssen R, Martin MA and Urreizti R.

    Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

    PEDIATRIC NEUROLOGY . 155: 8-17.

    [doi:10.1016/j.pediatrneurol.2024.03.008]