Personas / Equipo Humano

Laura Blasco Perez

Buscador de publicaciones

Publicaciones

  • Milligan JN, Blasco-Perez L, Costa-Roger M, Codina-Solà M and Tizzano E.

    Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.

    Genes . 13(9): . Nº de citas: 19

    [doi:10.3390/genes13091657]

  • Blasco-Perez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I and Tizzano E.

    Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(15): . Nº de citas: 18

    [doi:10.3390/ijms23158289]

  • Costa-Roger M, Blasco-Perez L, Cuscó I and Tizzano E.

    The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(16): . Nº de citas: 38

    [doi:10.3390/ijms22169029]

  • Blasco-Perez L, Paramonov I, Leno J, Bernal S, Alias L, Fuentes-Prior P, Cuscó I and Tizzano E.

    Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.

    HUMAN MUTATION . 42(6): 787-795. Nº de citas: 40

    [doi:10.1002/humu.24200]

  • Pascual-Alonso A, Blasco-Perez L, Vidal-Falcó S, Gean Molins E, Rubio P, O'Callaghan-Gordo M, Martinez-Monseny T, Castells AA, Xiol-Viñas C, Català V, Brandi-Tarrau N, Pacheco-Fernández P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S and Armstrong-Moron J.

    Molecular characterization of Spanish patients with MECP2 duplication syndrome

    CLINICAL GENETICS . 97(4): 610-620. Nº de citas: 23

    [doi:10.1111/cge.13718]

  • Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    Scientific Reports . 9: 11983-11983. Nº de citas: 20

    [doi:10.1038/s41598-019-48385-w]

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.

    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    Scientific Reports . 7: 12288-12288. Nº de citas: 19

    [doi:10.1038/s41598-017-11620-3]

  • Franch M, El Hafi-Elmokhtari R, Giné I, Blasco-Perez L, Ferro A, Sainz-Elías H, Aparicio L, Febas M, López YO, Haro JM and Cristobal P.

    Risk and protective factors for psychological distress, anxiety, depression, and PTSD in unaccompanied minor migrants in Spain.

    EUROPEAN CHILD & ADOLESCENT PSYCHIATRY . : .

    [doi:10.1007/s00787-026-03143-y]