Personas / Equipo Humano

Eduardo Fidel Tizzano Ferrari

Buscador de publicaciones

Publicaciones

  • Belvís R, Tizzano E, Martí-Fàbregas J, Leta RG, Baena M, Carreras F, Pons-Lladó G, Baiget M and Martí-Vilalta JL.

    Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale.

    Clinical Neurology and Neurosurgery . 111(7): 574-578. Nº de citas: 17

    [doi:10.1016/j.clineuro.2009.04.004]

  • Martínez-Hernández R, Soler-Botija C, Also E, Alias L, Caselles L, Gich I, Bernal S and Tizzano E.

    The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.

    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 68(5): 474-481. Nº de citas: 93

    [doi:10.1097/NEN.0b013e3181a10ea1]

  • Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E, Peciña A, Antiñolo G, Galán E, Rosa AL, Fernández-Burriel M, Borrego S, Millán JM, Hernández-Chico C, Baiget M and Tizzano E.

    Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

    HUMAN GENETICS . 125(1): 29-39. Nº de citas: 128

    [doi:10.1007/s00439-008-0598-1]

  • Tizzano E.

    Spinal muscular atrophy during human development: where are the early pathogenic findings?

    Advances in Experimental Medicine and Biology . 652: 225-235. Nº de citas: 3

    [doi:10.1007/978-90-481-2813-6_15]

  • Venceslá A, Fuentes-Prior P, Baena M, Quintana M, Baiget M and Tizzano E.

    Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene.

    Haemophilia . 14(5): 1094-1098. Nº de citas: 10

    [doi:10.1111/j.1365-2516.2008.01816.x]

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

    Application of intron 9 and intron 25 dinucleotide repeats of the factor VIII gene for carrier diagnosis in haemophilia A.

    Haemophilia . 14(3): 489-493. Nº de citas: 9

    [doi:10.1111/j.1365-2516.2008.01698.x]

  • Bernal S, Solans T, Gamundi MJ, Hernan I, de Jorge L, Carballo M, Navarro R, Tizzano E, Ayuso C and Baiget M.

    Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

    CLINICAL GENETICS . 73(4): 360-366. Nº de citas: 40

    [doi:10.1111/j.1399-0004.2008.00963.x]

  • 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]