Buscador de publicaciones

Publicaciones

  • Paré L, Paez D, Salazar J, Del Rio E, Tizzano E, Marcuello E and Baiget M.

    Absence of large intragenic rearrangements in the DPYD gene in a large cohort of colorectal cancer patients treated with 5-FU-based chemotherapy.

    BRITISH JOURNAL OF CLINICAL PHARMACOLOGY . 70(2): 268-272. Nº de citas: 13

    [doi:10.1111/j.1365-2125.2010.03683.x]

  • Febrer A, Rodriguez N, Alias L and Tizzano E.

    Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy.

    JOURNAL OF REHABILITATION MEDICINE . 42(3): 228-231. Nº de citas: 29

    [doi:10.2340/16501977-0507]

  • Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, Azimian M, Refah AA, Also E, Urtizberea JA, Tizzano E and Najmabadi H.

    Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.

    EUROPEAN JOURNAL OF NEUROLOGY . 17(1): 160-162. Nº de citas: 27

    [doi:10.1111/j.1468-1331.2009.02693.x]

  • 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]