Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity von Branchini, Alessio, Campioni, Matteo, Mazzucconi, Maria Gabriella, Biondo, Francesca, Mari, Rosella, Bicocchi, Maria Patrizia, Bernardi, Francesco, Pinotti, Mirko

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Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure von Bertini, Veronica, Ph.D, Ghirri, Paolo, M.D, Bicocchi, Maria Patrizia, Ph.D, Simi, Paolo, Ph.D, Valetto, Angelo, Ph.D

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Genetic analysis in FXI deficient patients from northwestern Italy: three novel and one recurrent mutation von Bicocchi, Maria Patrizia, Rosano, Camillo, Acquila, Maura

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Diagnostic potential of hepcidin testing in pediatrics von Cangemi, Giuliana, Pistorio, Angela, Miano, Maurizio, Gattorno, Marco, Acquila, Maura, Bicocchi, Maria Patrizia, Gastaldi, Roberto, Riccardi, Francesca, Gatti, Cinzia, Fioredda, Francesca, Calvillo, Michaela, Melioli, Giovanni, Martini, Alberto, Dufour, Carlo

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The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype von Margaglione, Maurizio, Castaman, Giancarlo, Morfini, Massimo, Rocino, Angiola, Santagostino, Elena, Tagariello, Giuseppe, Tagliaferri, Anna Rita, Zanon, Ezio, Bicocchi, Maria Patrizia, Castaldo, Giuseppe, Peyvandi, Flora, Santacroce, Rosa, Torricelli, Francesca, Grandone, Elvira, Mannucci, Pier Mannuccio, AICE-Genetics Study Group

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Unusual presentation of haemophilia in two paediatric patients von De Luca, Maia, Carducci, Francesca I Calò, Pansini, Valeria, Coletti, Valentina, Tucci, Filippo M, Cirillo, Marco, Acquila, Maura, Bicocchi, Maria Patrizia, D’Argenio, Patrizia, Luciani, Matteo

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Mosaic ring Y chromosome in two normal healthy men with azoospermia von Bertini, Veronica, Canale, Domenico, Bicocchi, Maria Patrizia, Simi, Paolo, Valetto, Angelo

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Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A von BICOCCHI, Maria Patrizia, MIGEON, Barbara R, PASINO, Mirella, LANZA, Tiziana, BOTTINI, Federico, BOERI, Elio, MOLINARI, Angelo C, CORSOLINI, Fabio, MORERIO, Cristina, ACQUILA, Maura

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Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy von Acquila, M, Pasino, M, Lanza, T, Bottini, F, Molinari, AC, Bicocchi, MP

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Analysis of 18 novel mutations in the factor VIII gene von Bicocchi, Maria P., Pasino, Mirella, Lanza, Tiziana, Bottini, Federico, Boeri, Elio, Mori, Pier G., Molinari, Angelo C., Rosano, Camillo, Acquila, Maura

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Frequency of factor VIII intron 1 inversion in a cohort of severe hemophilia A Italian patients von Acquila, Maura, Pasino, Mirella, Lanza, Tiziana, Bottini, Federico, Boeri, Elio, Bicocchi, Maria Patrizia

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Ectopic mRNAanalysis andmolecular modelling substantiate severe haemophilia in a patient with a FVIII gene splice mutation von Maria Patrizia Bicocchi, Mirella Pasino, Tiziana Lanza, F ederico Bottini, Angelo ClaudioMolinari, Camillo Rosano, MauraAcquila

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The Italian AlCE-Genetics hemophilia A database : results and correlation with clinical phenotype von MARGAGLIONE, Maurizio, CASTAMAN, Giancarlo, PEYVANDI, Flora, SANTACROCE, Rosa, TORRICELLI, Francesca, GRANDONE, Elvira, MANNUCCIO MANNUCCI, Pier, MORFINI, Massimo, ROCINO, Angiola, SANTAGOSTINO, Elena, TAGARIELLO, Giuseppe, TAGLIAFERRI, Anna Rita, ZANON, Ezio, PATRIZIA BICOCCHI, Maria, CASTALDO, Giuseppe

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Ectopic mRNA analysis and molecular modelling substantiate severe haemophilia in a patient with a FVIII gene splice mutation von Bicocchi, Maria Patrizia, Pasino, Mirella, Lanza, Tiziana, Bottini, Federico, Molinari, Angelo Claudio, Rosano, Camillo, Acquila, Maura

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Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication von Acquila, M, Pasino, M, Lanza, T, Molinari, AC, Rosano, C, Bicocchi, MP

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Small FVIII gene rearrangements in 18 hemophilia A patients: Five novel mutations von Bicocchi, Maria Patrizia, Pasino, Mirella, Lanza, Tiziana, Bottini, Federico, Molinari, Angelo Claudio, Caprino, Daniela, Rosano, Camillo, Acquila, Maura

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Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A: Cytogenetics von Bicocchi, Maria Patrizia, Migeon, Barbara R, Pasino, Mirella, Lanza, Tiziana, Bottini, Federico, Boeri, Elio, Molinari, Angelo C, Corsolini, Fabio, Morerio, Cristina, Acquila, Maura

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Mutation analysis impact on the genetic counseling of sporadic hemophilia B families von Bicocchi, Maria Patrizia, Pasino, Mirella, Bottini, Federico, Lanza, Tiziana, Mori, Pier Giorgio, Acquila, Maura

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Genetic analysis in FXI deficient patients from northwestern Italy: three novel and one recurrent mutation von Bicocchi, Maria Patrizia, Rosano, Camillo, Acquila, Maura

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Inversion mutation as a major cause of severe hemophilia A in Italian patients von Mori, PG, Caprino, D, Bicocchi, MP, Valetto, A, Bottini, F, Aquila, M

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