Personas / Equipo Humano

Eduardo Fidel Tizzano Ferrari

Buscador de publicaciones

Publicaciones

  • Venceslá A, Corral-Rodríguez MA, Baena M, Cornet M, Domènech M, Baiget M, Fuentes-Prior P and Tizzano E.

    Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.

    Blood . 111(7): 3468-3478. Nº de citas: 20

    [doi:10.1182/blood-2007-08-108068]

  • Gamez J, Also E, Alias L, Corbera-Bellalta M, Barceló MJ, Centeno M, Raguer N, Gratacós M, Baiget M and Tizzano E.

    Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients.

    Clinical Neurology and Neurosurgery . 109(10): 844-848. Nº de citas: 15

    [doi:10.1016/j.clineuro.2007.07.019]

  • Alias L, Barceló MJ, Gich I, Estapé M, Parra J, Amenedo M, Baiget M and Tizzano E.

    Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 15(10): 1090-1093. Nº de citas: 6

    [doi:10.1038/sj.ejhg.5201886]

  • 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]