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Bru Cormand Rifà

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Publications

  • Toma C, Hervás A, Torrico B, Balmaña N, Salgado M, Maristany M, Vilella E, Martínez-Leal R, Planelles MI, Cuscó I, del Campo M, Pérez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Pérez-Costillas L, Ramos-Quiroga JA, Ribasés M, Bayés M and Cormand B.

    Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2

    PSYCHIATRIC GENETICS . 23(2): 82-85. Number of citations: 48

    [doi:10.1097/YPG.0b013e32835d6fc6]

  • Sánchez-Mora C, Ribasés M, Ramos-Quiroga JA, Casas M, Bosch R, Boreatti-Hümmer A, Heine M, Jacob CP, Lesch KP, Fasmer OB, Knappskog PM, Kooij JJS, Kan C, Buitelaar JK, Mick E, Asherson P, Faraone SV, Franke B, Johansson S, Haavik J, Reif A, Bayés M and Cormand B.

    Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS . 153B(2): 512-523. Number of citations: 51

    [doi:10.1002/ajmg.b.31008]

  • 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]

  • 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-#]

  • 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: 97

    [doi:10.1136/jmg.32.9.740]

  • 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]