People / Staff

Eduardo Fidel Tizzano Ferrari

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Publications

  • López-Fernández A, Serra-Juhé C, Balmaña J and Tizzano E.

    Genetic counsellors in a multidisciplinary model of clinical genetics and hereditary cancer.

    MEDICINA CLINICA . 155(2): 77-81. Number of citations: 3

    [doi:10.1016/j.medcli.2020.01.001]

  • Cueto-González AM, Fernández-Cancio M, Fernández-Alvarez P, García-Arumí E and Tizzano E.

    Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.

    Human Genome Variation . 7: 20-20. Number of citations: 2

    [doi:10.1038/s41439-020-0105-3]

  • 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. Number of citations: 20

    [doi:10.1111/cge.13718]

  • Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano E, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, López-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G and Tartaglia M.

    Skeletal abnormalities are common features in Aymé-Gripp syndrome.

    CLINICAL GENETICS . 97(2): 362-369. Number of citations: 14

    [doi:10.1111/cge.13651]

  • Finkel RS, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, Shieh PB, Tizzano E, Desguerre I, Quijano-Roy S, Saito K, Droege M, Dabbous O, Khan F, Renault L, Anderson FA and Servais L.

    RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design.

    Journal of neuromuscular diseases . 7(2): 145-152. Number of citations: 28

    [doi:10.3233/JND-190451]

  • Dangouloff T, Burghes A, Tizzano E and Servais L.

    244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands.

    NEUROMUSCULAR DISORDERS . 30(1): 93-103. Number of citations: 56

    [doi:10.1016/j.nmd.2019.11.002]

  • Serra-Juhe C and Tizzano E.

    Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 27(12): 1774-1782. Number of citations: 28

    [doi:10.1038/s41431-019-0415-4]

  • Martin-Nalda A, Cueto-González AM, Argudo-Ramírez A, Marin-Soria JL, Martinez-Gallo M, Colobran R, Plaja A, Castells N, Riviere J, Tizzano E and Soler-Palacin P.

    Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

    Molecular genetics & genomic medicine . 7(12): . Number of citations: 8

    [doi:10.1002/mgg3.1016]

  • Tizzano E.

    Treating neonatal spinal muscular atrophy: A 21st century success story?

    EARLY HUMAN DEVELOPMENT . 138: 104851-104851. Number of citations: 17

    [doi:10.1016/j.earlhumdev.2019.104851]

  • Mendonça RH, Rocha AJ, Lozano-Arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Cuscó I, Tizzano E and Zanoteli E.

    Severe brain involvement in 5q spinal muscular atrophy type 0.

    ANNALS OF NEUROLOGY . 86(3): 458-462. Number of citations: 42

    [doi:10.1002/ana.25549]