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The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype 1-gen-2008 Margaglione, Maurizio; Castaman, G.; Morfini, M.; Rocino, A.; Santagostino, E.; Tagariello, G.; Tagliaferri, A. R.; Zanon, E.; Bicocchi, M. P.; Castaldo, G.; Peyvandi, F.; Santacroce, Rosa; Torricelli, F.; Grandone, E.; Mannucci, P. M.
Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy 1-gen-2008 Santacroce, Rosa; Santoro, R.; Sessa, F.; Iannaccaro, P.; Sarno, M.; Longo, V.; Gallone, A.; Vecchione, G.; Muleo, G.; Margaglione, Maurizio
Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization. 1-gen-2008 Chetta, Massimilano; Drmanac, A; Santacroce, Rosa; Grandone, E; Surrey, S; Fortina, P; Margaglione, Maurizio
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 1-gen-2008 Santacroce, Rosa; Acquila, M; Belvini, D; Castaldo, G; Garagiola, I; Giacomelli, Sh; Lombardi, Am; Minuti, B; Riccardi, F; Salviato, R; Tagliabue, L; Grandone, E; Margaglione, Maurizio; AICE GENETICS STUDY, Group
Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect? 1-gen-2009 Bukvic, N; Sportelli, F; Sessa, F; Longo, V; Roberti, Mg; Santacroce, Rosa; Margaglione, Maurizio
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction (ITI) of hemophilia A patients with high-responding inhibitors 1-gen-2009 Coppola, A.; Margaglione, Maurizio; Santagostino, E.; Rocino, A.; Grandone, E.; Mannucci, . P. M.; DI MINNO, G.; Santacroce, Rosa
A platelet defect modulates bleeding in mild hemophilia: the tale of 2 brothers. 1-gen-2009 Lapecorella, M; Santacroce, Rosa; Napolitano, M; Bafunno, V; Favuzzi, G; Longo, V; Grandone, E; Mariani, G; Margaglione, Maurizio
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. 1-gen-2009 Querques, G; Zerbib, J; Santacroce, Rosa; Margaglione, Maurizio; Delphin, N; Rozet, Jm; Kaplan, J; Martinelli, Domenico; DELLE NOCI, Nicola; Soubrane, G; Souied, E. H.
Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification 1-gen-2009 Santacroce, Rosa; Longo, V.; Bafunno, V.; Sessa, F.; Chetta, M.; Sarno, M.; Bukvic, N.; D'Andrea, Giovanna; Tomaiuolo, M.; Margaglione, Maurizio
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene 1-gen-2009 Querques, G.; Zerbib, J.; Santacroce, Rosa; Margaglione, Maurizio; Delphin, N.; Rozet, J. M.; Kaplan, J.; Martinelli, Domenico; DELLE NOCI, Nicola; Soubrane, G.; Souied, E. H.
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A. 1-gen-2009 Bafunno, V; Santacroce, Rosa; Chetta, M; D'Andrea, Giovanna; Pisanelli, D; Sessa, F; Trotta, Teresa; Tagariello, G; Peyvandi, F; Margaglione, Maurizio
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 1-gen-2010 Bafunno, V.; Santacroce, Rosa; Chetta, M.; D'Andrea, Giovanna; Pisanelli, D.; Sessa, F.; Trotta, Teresa; Tagariello, G.; Peyvandi, F.; Margaglione, Maurizio
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH. 1-gen-2010 Bukvic, N.; Carri, V. D.; DI COSOLA, M. L.; Pustorino, G.; Cesarano, C.; Chetta, M.; Santacroce, Rosa; Sarno, M.; Sessa, F.; Longo, V.; Novelli, A.; Gentile, M.; Margaglione, Maurizio
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 1-gen-2010 Bafunno, V.; Santacroce, R.; Chetta, M.; D'Andrea, G.; Pisanelli, D.; Sessa, F.; Trotta, T.; Tagariello, G.; Peyvandi, F.; Margaglione, M.
Deep intronic variations may cause mild hemophilia A. 1-gen-2011 Castaman, G1; Giacomelli, Sh; Mancuso, Me; D'Andrea, Giovanna; Santacroce, Rosa; Sanna, S; Santagostino, E; Mannucci, Pm; Goodeve, A; Rodeghiero, F.
The risk of occurrence of venous thrombosis: focus on protein Z. 1-gen-2011 Bafunno, V; Santacroce, Rosa; Margaglione, Maurizio
The spectrum of subclinical Best Vitelliform Macular Dystrophy in subjects with mutations in BEST1 gene. 1-gen-2011 Querques, G; Zerbib, J; Santacroce, Rosa; Margaglione, Maurizio; Delphin, N; Querques, L; Rozet, Jm; Kaplan, J; Souied, E. H.
ANALISI MOLECOLARE E CORRELAZIONE GENOTIPO-FENOTIPO IN FAMIGLIE CON IPERFENILALANINEMIE. 1-gen-2012 Trunzo, Roberta; Santacroce, Rosa; D'Andrea, Giovanna; Longo, V.; De Girolamo, G.; Dimatteo, C.; Leccese, A.; Lillo, V.; Margaglione, Maurizio; Papadia, F.
Polymorphic miRNA-mediated gene contribution to inhibitor development in haemophilia A 1-gen-2012 Bafunno, V; Santacroce, Rosa; Chetta, M; Peyvandi, F; Sessa, Francesco; Chinni, E; Longo, V; Margaglione, Maurizio
Clinical histories and molecular characterization of two afibrinogenemic patients: insights into clinical management. 1-gen-2012 Grandone, E; Tiscia, G; Cappucci, F; Favuzzi, G; Santacroce, Rosa; Pisanelli, D; Soli, F; Legnani, C; Rizzo, Ma; Palareti, G; Margaglione, Maurizio
Mostrati risultati da 21 a 40 di 82
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