Sfoglia per Autore  SANTACROCE, ROSA

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A G-to A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing 1-gen-2000 Margaglione, Maurizio; Santacroce, Rosa; Colaizzo, D.; Seripa, D.; Vecchione, G.; Lupone, M. R.; DE LUCIA, D.; Fortina, P.; Grandone, E.; Perricone, C.; DI MINNO, G.
In the presence of other inherited or acquired high-risk situations, the Factor V Cambridge mutation may be an additional thrombophilic risk, through its effect on APC sensitivity 1-gen-2000 Santacroce, Rosa; Bossone, A; Brancaccio, V; Fortina, P; DI MINNO, G; Margaglione, Maurizio
A simple two-color array-based approach for mutation detection 1-gen-2000 Fortina, P; Delgrosso, K; Sakazume, T; Santacroce, Rosa; Mounterau, S; Su, H. J.; Graves, D; Mckenzie, S; Surrey, S.
A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo 1-gen-2001 Margaglione, Maurizio; . VECCHIONE G, .; Santacroce, Rosa; Dangelo, F.; Casetta, B.; Papa, M. L.; Grandone, E.; DI MINNO, G.
A comprehensive on-line digestion-liquid chromatography/mass spectrometry/collision-induced dissociation mass spectrometry approach for the characterization of human fibrinogen. 1-gen-2001 Vecchione, G; Casetta, B; Santacroce, Rosa; Margaglione, Maurizio
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss. 1-gen-2002 Ferraris, A; Rappaport, E; Santacroce, Rosa; Pollak, E; Krantz, I; Toth, S; Lysholm, F; Margaglione, Maurizio; Restagno, G; Dallapiccola, B; Surrey, S; Fortina, P.
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. 1-gen-2002 Santacroce, Rosa; Ratti, A; Caroli, F; Foglieni, B; Ferraris, A; Cremonesi, L; Margaglione, Maurizio; Seri, M; Ravazzolo, R; Restagno, G; DALLA PICCOLA, B; Rappaport, E; Pollak, E; Surrey, S; Ferrari, M; Fortina, P.
Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V. 1-gen-2002 Bossone, A; Dangelo, F; Santacroce, Rosa; DE LUCIA, D; Margaglione, Maurizio
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength 1-gen-2002 Kudaravalli, R.; Tidd, T.; Pinotti, M.; Ratti, A.; Santacroce, Rosa; Margaglione, Maurizio; Dallapiccola, B.; Bernardi, F.; Fortina, P.; Devoto, M.; Pollak, E. S.
Protein Z gene polymorphisms are associated with protein Z plasma levels 1-gen-2004 Santacroce, Rosa; Cappucci, F; DI PERNA, P; Sessa, F; Margaglione, Maurizio
Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity. 1-gen-2004 Abdulmalik, O; Safo, Mk; Lerner, Nb; Ochotorena, J; Daikhin, E; Lakka, V; Santacroce, Rosa; Abraham, Dj; Asakura, T.
A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin 1-gen-2005 D'Andrea, Giovanna; D'Ambrosio, Rl; Di Perna, P; Chetta, Massimiliano; Santacroce, Rosa; Brancaccio, V; Grandone, E; Margaglione, Maurizio
A polymorfism in VKORC1 gene is associated with an interindividual variability in the dose-anticoagulation effect of warfarin. 1-gen-2005 D'Andrea, Giovanna; Dambrosio, R. L.; P, DI ERNA .; Chetta, M.; Santacroce, Rosa; Brancaccio, V.; Grandone, E.; Margaglione, Maurizio
Clinical counselling in congenital fibrinogen disorders 1-gen-2006 Santacroce, Rosa; Cappucci, F; Pisanelli, D; Perricone, C; Papa, M. L.; Santoro, R; Grandone, E; Margaglione, Maurizio
Low protein Z levels and risk of occurrence of deep vein thrombosis 1-gen-2006 Santacroce, Rosa; Sarno, M.; Cappucci, F.; Sessa, F.; Colaizzo, D.; Brancaccio, V.; Grandone, E.; Margaglione, Maurizio
Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group. 1-gen-2006 Santacroce, Rosa; Cappucci, F; Pisanelli, D; Perricone, F; Papa, Ml; Santoro, R; Grandone, E; Margaglione, Maurizio
Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia 1-gen-2006 Santacroce, Rosa; Vecchione, G; Tomaiuolo, M; Sessa, F; Sarno, M; Colaizzo, D; Grandone, E; Margaglione, Maurizio
A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients. 1-gen-2007 D'Ambrosio, R; Santacroce, Rosa; Perna, Pd; Sarno, M; Romondia, A; Margaglione, Maurizio
A description of a new case of combined Factor V and Factor VIII deficiency: the LMAN1 M1T is a frequent cause in Italian patients. 1-gen-2007 Dambrosio, R; Santacroce, Rosa; DI PERNA, P; Sarno, M; Romondia, A; Margaglione, Maurizio
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.
Mostrati risultati da 1 a 20 di 82
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