People / Staff

Eduardo Fidel Tizzano Ferrari

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Publications

  • Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A and et al..

    A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.

    NATURE GENETICS . 11(3): 335-337. Number of citations: 220

    [doi:10.1038/ng1195-335]

  • Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH Jr, Négrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon E, Ghanem N, Plassa F, Lavergne JM, Vidaud M, Costa JM, Laurian Y, Lin SW, Lin SR, Shen MC, Lillicrap D, Taylor SA, Windsor S, Valleix SV, Nafa K, Sultan Y, Delpech M, Vnencak-Jones CL, Phillips JA 3rd, Ljung RC, Koumbarelis E, Gialeraki A, Mandalaki T, Jenkins PV, Collins PW, Pasi KJ, Goodeve A, Peake I, Preston FE, Schwartz M, Scheibel E, Ingerslev J, Cooper DN, Millar DS, Kakkar VV, Giannelli F, Naylor JA, Tizzano E, Baiget M, Domenech M, Altisent C, Tusell J, Beneyto M, Lorenzo JI, Gaucher C, Mazurier C, Peerlinck K, Matthijs G, Cassiman JJ, Vermylen J, Mori PG, Acquila M, Caprino D and Inaba H.

    Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

    Blood . 86(6): 2206-2212. Number of citations: 291

    [doi:10.1182/blood.V86.6.2206.bloodjournal8662206]

  • Tizzano E and Buchwald M.

    CFTR expression and organ damage in cystic fibrosis.

    ANNALS OF INTERNAL MEDICINE . 123(4): 305-308. Number of citations: 50

    [doi:10.7326/0003-4819-123-4-199508150-00009]

  • Tizzano E, Domènech M and Baiget M.

    Inversion of intron 22 in isolated cases of severe hemophilia A.

    THROMBOSIS AND HAEMOSTASIS . 73(1): 6-9. Number of citations: 23

  • Colomer J, Gallano P, Nicholson LV, Tizzano E and Baiget M.

    Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene.

    EUROPEAN JOURNAL OF PEDIATRICS . 153(7): 492-494. Number of citations: 4

    [doi:10.1007/BF01957003]

  • Tizzano E, Silver MM, Chitayat D, Benichou JC and Buchwald M.

    Differential cellular expression of cystic fibrosis transmembrane regulator in human reproductive tissues. Clues for the infertility in patients with cystic fibrosis.

    AMERICAN JOURNAL OF PATHOLOGY . 144(5): 906-914. Number of citations: 145

  • Tizzano E, O'Brodovich H, Chitayat D, Bènichou JC and Buchwald M.

    Regional expression of CFTR in developing human respiratory tissues.

    AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY . 10(4): 355-362. Number of citations: 66

    [doi:10.1165/ajrcmb.10.4.7510983]

  • Tejada MI, Mornet E, Tizzano E, Molina M, Baiget M and Boue A.

    Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.

    JOURNAL OF MEDICAL GENETICS . 31(1): 76-78. Number of citations: 21

    [doi:10.1136/jmg.31.1.76]

  • Tizzano E and Buchwald M.

    Recent advances in cystic fibrosis research.

    JOURNAL OF PEDIATRICS . 122(6): 985-988. Number of citations: 10

    [doi:10.1016/s0022-3476(09)90033-6]

  • Tizzano E, Chitayat D and Buchwald M.

    Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues.

    HUMAN MOLECULAR GENETICS . 2(3): 219-224. Number of citations: 129

    [doi:10.1093/hmg/2.3.219]