MARGAGLIONE, MAURIZIO
MARGAGLIONE, MAURIZIO
Dipartimento di Medicina Clinica e Sperimentale
"Genetic modulation of oral anticoagulantion with warfarin "
2000-01-01 Margaglione, Maurizio; Colaizzo, D; D'Andrea, Giovanna; Brancaccio, V; Ciampa, A; Grandone, E; Diminno, G.
A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions.
2008-01-01 D'Andrea, Giovanna; Bafunno, V.; DEL VECCHIO, L.; Amoriello, A.; Morabito, P.; Vecchione, G.; Grandone, E.; Margaglione, Maurizio
A comprehensive on-line digestion-liquid chromatography/mass spectrometry/collision-induced dissociation mass spectrometry approach for the characterization of human fibrinogen.
2001-01-01 Vecchione, G; Casetta, B; Santacroce, Rosa; 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.
2007-01-01 Dambrosio, R; Santacroce, Rosa; DI PERNA, P; Sarno, M; Romondia, A; Margaglione, Maurizio
A fast and accurate method for genotyping the angiotensin-converting enzyme I/D polymorphism.
1998-01-01 Mancini, Fp; Margaglione, Maurizio; Tufano, A; Celentano, A; Ferrara, La; Colantuoni, V; Di Minno, G.
A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo
2001-01-01 Margaglione, Maurizio; . VECCHIONE G, .; Santacroce, Rosa; Dangelo, F.; Casetta, B.; Papa, M. L.; Grandone, E.; DI MINNO, G.
A G-to A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing
2000-01-01 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.
A myoferlin gain-of-function variant associates with a new type of hereditary angioedema
2020-01-01 Ariano, A.; D'Apolito, M.; Bova, M.; Bellanti, F.; Loffredo, S.; D'Andrea, G.; Intrieri, M.; Petraroli, A.; Maffione, A. B.; Spadaro, G.; Santacroce, R.; Margaglione, M.
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.
2007-01-01 D'Ambrosio, R; Santacroce, Rosa; Perna, Pd; Sarno, M; Romondia, A; Margaglione, Maurizio
A new JAK2 gene mutation in patients with polycythemia vera and splanchnic vein thrombosis.
2007-01-01 Colaizzo, D; Amitrano, L; Tiscia, Gl; Grandone, E; Guardascione, Ma; Margaglione, Maurizio
A new method for determination of plasma homocystine by isotope dilution and electrospray tandem mass spectrometry. J
2006-01-01 Tomaiuolo, M; Vecchione, G; Grandone, E; Cocomazzi, N; Casetta, B; Di Minno, G; Margaglione, Maurizio
A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis
2017-01-01 Carpagnano, GIOVANNA ELISIANA; Santacroce, Rosa; Palmiotti, G. A; Leccese, A.; Giuffreda, E.; Margaglione, Maurizio; FOSCHINO BARBARO, MARIA PIA; Aliberti, S.; Lacedonia, Donato
A new vitamin K epoxide reductase complex subunit-1 (VKORC1) mutation in a patient with decreased stability of CYP2C9 enzyme
2007-01-01 D'Ambrosio, R. L.; D'Andrea, Giovanna; Cafolla, A.; Faillace, F.; Margaglione, Maurizio
A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (α2-antiplasmin) deficiency in an Italian patient
2018-01-01 Viganò, S; D'Andrea, G; Valle, Pd; Santacroce, R; Margaglione, M; D'Angelo, A.
A novel congenital dysprothrombinemia leading to defective prothrombin maturation
2014-01-01 Bafunno, Valeria; Bury, Loredana; Tiscia, Giovanni Luca; Fierro, Tiziana; Favuzzi, Giovanni; Caliandro, Rocco; Sessa, Francesco; Grandone, Elvira; Margaglione, Maurizio; Gresele, Paolo
A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis
2023-01-01 D'Apolito, Maria; Santoro, Francesco; Santacroce, Rosa; Cordisco, Giorgia; Ragnatela, Ilaria; D'Arienzo, Girolamo; Pellegrino, Pier Luigi; Brunetti, Natale Daniele; Margaglione, Maurizio
A novel G-to-A mutation in the intron-N of the protein S gene leading to abnormal RNA splicing in a patient with protein S deficiency.
2003-01-01 D'Andrea, Giovanna; DI PERNA, P.; Brancaccio, V.; Faioni, E. M.; Castaman, G.; Cibelli, Giuseppe; DI MINNO, G.; Margaglione, Maurizio
A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis
2023-01-01 D'Apolito, Maria; Ceccarini, Caterina; Rosa, Savino; Adipietro, Iolanda; di Bari, Ighli; Santacroce, Rosa; Curcetti, Maria; D'Andrea, Giovanna; Croce, Anna-Irma; Cesarano, Carla; Polito, Anna Nunzia; Margaglione, Maurizio
A Novel Mutation In HERG Gene, A490P, Found In A Large Family With Autosomal Dominant Long QT Syndrome
2007-01-01 Pellegrino, Pl; Bafunno, V; Ieva, R; Brunetti, NATALE DANIELE; Mavilio, G; Sessa, F; Grimaldi, M; Margaglione, Maurizio; DI BIASE, Matteo
A novel mutation in HERG gene, a490p, found in a large family with autosomal dominant long QT syndrome
2006-01-01 Pellegrino, P. L.; Bafunno, V.; Ieva, R.; Brunetti, NATALE DANIELE; Mavilio, G.; Sessa, F.; De Gennaro, L.; Casavecchia, G.; Margaglione, Maurizio; DI BIASE, Matteo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| "Genetic modulation of oral anticoagulantion with warfarin " | 1-gen-2000 | Margaglione, Maurizio; Colaizzo, D; D'Andrea, Giovanna; Brancaccio, V; Ciampa, A; Grandone, E; Diminno, G. | |
| A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions. | 1-gen-2008 | D'Andrea, Giovanna; Bafunno, V.; DEL VECCHIO, L.; Amoriello, A.; Morabito, P.; Vecchione, G.; Grandone, E.; Margaglione, Maurizio | |
| 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 | |
| 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 | |
| A fast and accurate method for genotyping the angiotensin-converting enzyme I/D polymorphism. | 1-gen-1998 | Mancini, Fp; Margaglione, Maurizio; Tufano, A; Celentano, A; Ferrara, La; Colantuoni, V; Di Minno, G. | |
| 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 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. | |
| A myoferlin gain-of-function variant associates with a new type of hereditary angioedema | 1-gen-2020 | Ariano, A.; D'Apolito, M.; Bova, M.; Bellanti, F.; Loffredo, S.; D'Andrea, G.; Intrieri, M.; Petraroli, A.; Maffione, A. B.; Spadaro, G.; Santacroce, R.; Margaglione, M. | |
| 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 new JAK2 gene mutation in patients with polycythemia vera and splanchnic vein thrombosis. | 1-gen-2007 | Colaizzo, D; Amitrano, L; Tiscia, Gl; Grandone, E; Guardascione, Ma; Margaglione, Maurizio | |
| A new method for determination of plasma homocystine by isotope dilution and electrospray tandem mass spectrometry. J | 1-gen-2006 | Tomaiuolo, M; Vecchione, G; Grandone, E; Cocomazzi, N; Casetta, B; Di Minno, G; Margaglione, Maurizio | |
| A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis | 1-gen-2017 | Carpagnano, GIOVANNA ELISIANA; Santacroce, Rosa; Palmiotti, G. A; Leccese, A.; Giuffreda, E.; Margaglione, Maurizio; FOSCHINO BARBARO, MARIA PIA; Aliberti, S.; Lacedonia, Donato | |
| A new vitamin K epoxide reductase complex subunit-1 (VKORC1) mutation in a patient with decreased stability of CYP2C9 enzyme | 1-gen-2007 | D'Ambrosio, R. L.; D'Andrea, Giovanna; Cafolla, A.; Faillace, F.; Margaglione, Maurizio | |
| A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (α2-antiplasmin) deficiency in an Italian patient | 1-gen-2018 | Viganò, S; D'Andrea, G; Valle, Pd; Santacroce, R; Margaglione, M; D'Angelo, A. | |
| A novel congenital dysprothrombinemia leading to defective prothrombin maturation | 1-gen-2014 | Bafunno, Valeria; Bury, Loredana; Tiscia, Giovanni Luca; Fierro, Tiziana; Favuzzi, Giovanni; Caliandro, Rocco; Sessa, Francesco; Grandone, Elvira; Margaglione, Maurizio; Gresele, Paolo | |
| A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis | 1-gen-2023 | D'Apolito, Maria; Santoro, Francesco; Santacroce, Rosa; Cordisco, Giorgia; Ragnatela, Ilaria; D'Arienzo, Girolamo; Pellegrino, Pier Luigi; Brunetti, Natale Daniele; Margaglione, Maurizio | |
| A novel G-to-A mutation in the intron-N of the protein S gene leading to abnormal RNA splicing in a patient with protein S deficiency. | 1-gen-2003 | D'Andrea, Giovanna; DI PERNA, P.; Brancaccio, V.; Faioni, E. M.; Castaman, G.; Cibelli, Giuseppe; DI MINNO, G.; Margaglione, Maurizio | |
| A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis | 1-gen-2023 | D'Apolito, Maria; Ceccarini, Caterina; Rosa, Savino; Adipietro, Iolanda; di Bari, Ighli; Santacroce, Rosa; Curcetti, Maria; D'Andrea, Giovanna; Croce, Anna-Irma; Cesarano, Carla; Polito, Anna Nunzia; Margaglione, Maurizio | |
| A Novel Mutation In HERG Gene, A490P, Found In A Large Family With Autosomal Dominant Long QT Syndrome | 1-gen-2007 | Pellegrino, Pl; Bafunno, V; Ieva, R; Brunetti, NATALE DANIELE; Mavilio, G; Sessa, F; Grimaldi, M; Margaglione, Maurizio; DI BIASE, Matteo | |
| A novel mutation in HERG gene, a490p, found in a large family with autosomal dominant long QT syndrome | 1-gen-2006 | Pellegrino, P. L.; Bafunno, V.; Ieva, R.; Brunetti, NATALE DANIELE; Mavilio, G.; Sessa, F.; De Gennaro, L.; Casavecchia, G.; Margaglione, Maurizio; DI BIASE, Matteo |