Personas / Equipo Humano

Eduardo Fidel Tizzano Ferrari

Buscador de publicaciones

Publicaciones

  • Rodríguez Criado G, Galán Gómez E, Tizzano E, García Rodríguez E and Gómez de Terreros I.

    First report of a patient with a mixoploidy 47,XXX/94,XXXXXX.

    GENETIC COUNSELING . 18(1): 99-104. Nº de citas: 2

  • Barceló MJ, Alias L, Caselles L, Robles Y, Baiget M and Tizzano E.

    Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis.

    GENETICS IN MEDICINE . 8(4): 259-262. Nº de citas: 3

    [doi:10.1097/01.gim.0000214319.99550.10]

  • Mateo J, Badell I, Forner R, Borrell M, Tizzano E and Fontcuberta J.

    Successful suppression using Rituximab of a factor VIII inhibitor in a boy with severe congenital haemophilia: an example of a significant decrease of treatment costs.

    THROMBOSIS AND HAEMOSTASIS . 95(2): 386-387. Nº de citas: 18

  • Cuscó I, Barceló MJ, Rojas-García R, Illa I, Gámez J, Cervera C, Pou A, Izquierdo G, Baiget M and Tizzano E.

    SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.

    JOURNAL OF NEUROLOGY . 253(1): 21-25. Nº de citas: 90

    [doi:10.1007/s00415-005-0912-y]

  • Tizzano E, Barceló MJ, Baena M, Cornet M, Venceslá A, Mateo J, Fontcuberta J and Baiget M.

    Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis.

    THROMBOSIS AND HAEMOSTASIS . 94(3): 661-664. Nº de citas: 13

    [doi:10.1160/TH05-03-0144]

  • Tizzano E, Venceslá A, Baena M, Cornet M, Calvo MT, Lucía JF, Pérez Garrido R, Núñez R and Baiget M.

    First report of two independent point factorVIII mutations in a family with haemophilia a: a word of caution for carrier diagnosis.

    THROMBOSIS AND HAEMOSTASIS . 94(3): 675-677. Nº de citas: 4

    [doi:10.1160/TH05-03-0675]

  • Tizzano E, Venceslá A, Cornet M, Baena M and Baiget M.

    Utility of a (GT) dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia A carrier diagnosis.

    Haemophilia . 11(2): 142-144. Nº de citas: 15

    [doi:10.1111/j.1365-2516.2005.01071.x]

  • Soler-Botija C, Cuscó I, Caselles L, López E, Baiget M and Tizzano E.

    Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 64(3): 215-223. Nº de citas: 44

    [doi:10.1093/jnen/64.3.215]

  • Soler-Botija C, Cuscó I, López E, Clua A, Gich I, Baiget M, Ferrer I and Tizzano E.

    Choline acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cord.

    NEUROMUSCULAR DISORDERS . 15(3): 253-258. Nº de citas: 8

    [doi:10.1016/j.nmd.2004.11.006]

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

    Detection of novel mutations in the SMN Tudor domain in type I SMA patients.

    Neurology . 63(1): 146-149. Nº de citas: 50

    [doi:10.1212/01.wnl.0000132634.48815.13]