Personas / Equipo Humano

Eduardo Fidel Tizzano Ferrari

Buscador de publicaciones

Publicaciones

  • Tizzano E, Cornet M, Domènech M and Baiget M.

    Exclusion of mosaicism in Spanish haemophilia A families with inversion of intron 22.

    Haemophilia . 9(5): 584-587. Nº de citas: 6

    [doi:10.1046/j.1365-2516.2003.00813.x]

  • Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M and Tizzano E.

    A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.

    HUMAN MUTATION . 22(2): 136-143. Nº de citas: 40

    [doi:10.1002/humu.10245]

  • Soler-Botija C, Ferrer I, Alvarez JL, Baiget M and Tizzano E.

    Downregulation of Bcl-2 proteins in type I spinal muscular atrophy motor neurons during fetal development.

    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 62(4): 420-426. Nº de citas: 33

    [doi:10.1093/jnen/62.4.420]

  • Cuscó I, Barceló MJ, Baiget M and Tizzano E.

    Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.

    HUMAN MUTATION . 20(6): 452-459. Nº de citas: 33

    [doi:10.1002/humu.10144]

  • Gamez J, Barceló MJ, Muñoz X, Carmona F, Cuscó I, Baiget M, Cervera C and Tizzano E.

    Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients.

    Neurology . 59(9): 1456-1460. Nº de citas: 27

    [doi:10.1212/01.wnl.0000032496.64510.4e]

  • Cuscó I, Barceló MJ, Soler C, Parra J, Baiget M and Tizzano E.

    Prenatal diagnosis for risk of spinal muscular atrophy.

    BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY . 109(11): 1244-1249. Nº de citas: 20

    [doi:10.1016/S1470-0328(02)02983-X]

  • Rojas-García R, Tizzano E, Cuscó I, Gallardo E, Barceló MJ, de Andrés I, Larrodé P, Martí-Massó JF, Martínez-Matos JA, Povedano M, Rallo B, Serrano S, Baiget M and Illa I.

    The absence of survival motor neuron 2 gene may play a role in multifocal motor neuropathy.

    Neurology . 59(7): 1112-1113. Nº de citas: 5

    [doi:10.1212/wnl.59.7.1112]

  • Soler-Botija C, Ferrer I, Gich I, Baiget M and Tizzano E.

    Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord.

    BRAIN . 125(Pt 7): 1624-1634. Nº de citas: 90

    [doi:10.1093/brain/awf155]

  • Tizzano E, Cornet M, Domènech M and Baiget M.

    Modifier genes in haemophilia: their expansion in the human genome.

    Haemophilia . 8(3): 250-254. Nº de citas: 18

    [doi:10.1046/j.1365-2516.2002.00623.x]

  • Tizzano E, Soria JM, Coll I, Guzmán B, Cornet M, Altisent C, Martorell M, Domenech M, del Río E, Fontcuberta J and Baiget M.

    The prothrombin 20210A allele influences clinical manifestations of hemophilia A in patients with intron 22 inversion and without inhibitors.

    HAEMATOLOGICA . 87(3): 279-285. Nº de citas: 47