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Genètica Molecular Humana I

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Publicacions

  • Urreizti R, Damanti S, Esteve-Matanza C, Franco-Valls H, Castilla-Vallmanya L, Tonda R, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg-Vaisman DR and Balcells S.

    A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

    SCIENTIFIC REPORTS . 8: 694-694. Nº de cites: 11

    [doi:10.1038/s41598-017-19109-9]

  • De-Ugarte L, Serra-Vinardell J, Nonell L, Balcells S, Arnal M, Nogues X, Mellibovsky L, Grinberg-Vaisman DR, Diez-Perez A and Garcia-Giralt N.

    Expression profiling of microRNAs in human bone tissue from postmenopausal women.

    Human Cell . 31(1): 33-41. Nº de cites: 11

    [doi:10.1007/s13577-017-0181-y]

  • Herrera S, Soriano R, Nogués X, Güerri-Fernandez R, Grinberg-Vaisman DR, García-Giralt N, Martinez-Gil N, Castejón S, González-Lizarán A, Balcells S and Diez-Perez A.

    Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease.

    OSTEOPOROSIS INTERNATIONAL . 28(12): 3489-3493. Nº de cites: 5

    [doi:10.1007/s00198-017-4198-6]

  • Cabana-Domínguez J, Roncero C, Pineda L, Palma-Álvarez RF, Ros-Cucurull E, Grau-López L, Esojo A, Casas M, Arenas C, Ramos-Quiroga JA, Ribasés M, Fernandez-Castillo N and Cormand B.

    Association of the PLCB1 gene with drug dependence.

    SCIENTIFIC REPORTS . 7(1): 10110-10110. Nº de cites: 12

    [doi:10.1038/s41598-017-10207-2]

  • Garcia-Martínez I, Sánchez-Mora C, Soler Artigas M, Rovira P, Pagerols M, Corrales M, Calvo-Sánchez E, Richarte V, Bustamante M, Sunyer J, Cormand B, Casas M, Ramos-Quiroga JA and Ribasés M.

    Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder.

    SCIENTIFIC REPORTS . 7(1): 5407-5407. Nº de cites: 10

    [doi:10.1038/s41598-017-05514-7]

  • Sintas C, Carreño O, Fernandez-Castillo N, Corominas R, Vila-Pueyo M, Toma C, Cuenca-León E, Barroeta I, Roig C, Volpini V, Macaya A and Cormand B.

    Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

    SCIENTIFIC REPORTS . 7(1): 2514-2514. Nº de cites: 26

    [doi:10.1038/s41598-017-02554-x]

  • De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg-Vaisman DR, García-Giralt N and Díez-Pérez A.

    Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.

    BMC MEDICAL GENOMICS . 10(1): 36-36.

    [doi:10.1186/s12920-017-0272-3]

  • Stauffert F, Serra-Vinardell J, Gómez-Grau M, Michelakakis H, Mavridou I, Grinberg-Vaisman DR, Vilageliu L, Casas J, Bodlenner A, Delgado A and Compain P.

    Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on ß-glucocerebrosidase activity.

    ORG BIOMOL CHEM . 15(17): 3681-3705. Nº de cites: 9

    [doi:10.1039/c7ob00443e]

  • Sintas C, Fernàndez-Castillo N, Vila-Pueyo M, Pozo-Rosich P, Macaya A and Cormand B.

    Transcriptomic Changes in Rat Cortex and Brainstem After Cortical Spreading Depression With or Without Pretreatment With Migraine Prophylactic Drugs.

    JOURNAL OF PAIN . 18(4): 366-375. Nº de cites: 3

    [doi:10.1016/j.jpain.2016.11.007]

  • Urreizti R, Cueto-Gonzalez, Ana Maria, Franco-Valls, Héctor, Mort-Farre, Silvia, Roca N, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio M, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo, Cormand B, Vilageliu L, Opitz, John, Neri, Giovanni, Grinberg-Vaisman DR and Balcells S.

    A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

    SCIENTIFIC REPORTS . 7: 44138-44138. Nº de cites: 27

    [doi:10.1038/srep44138]