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Publications

  • 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]

  • Tizzano E, Gallano Petit P and Baiget Bastus M.

    Importancia del diagnóstico molecular en la detección de varones sanos transmisores de síndrome del X-frágil.

    Anales espanoles de pediatria . 36(4): 272-276.

  • Tizzano E and Buchwald M.

    Cystic fibrosis: beyond the gene to therapy.

    JOURNAL OF PEDIATRICS . 120(3): 337-349. Number of citations: 47

    [doi:10.1016/s0022-3476(05)80895-9]

  • Baiget M, Tizzano E, Volpini V, del Rio E, Pérez-Vidal T and Gallano P.

    DMD carrier detection in a female with mosaic Turner's syndrome.

    JOURNAL OF MEDICAL GENETICS . 28(3): 209-210. Number of citations: 9

    [doi:10.1136/jmg.28.3.209]