Search Results - "Di Bari, Filomena"

Dominant inheritance of a novel integrin β3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families by GRESELE, Paolo, FALCINELLI, Emanuela, NORIS, Patrizia, BAIDUINI, Carlo L, SAVOIA, Anna, GIANNINI, Silvia, D'ADAMO, Pio, D'EUSTACCHIO, Angela, CORAZZI, Teresa, MEZZASOMA, Anna Maria, DI BARI, Filomena, GUGLIELMINI, Giuseppe, CECCHETTI, Luca

“…Glanzmann’s thrombasthenia is a bleeding disorder caused by mutations of the ITGA2B or ITGB3 genes. This paper describes two Italian families with moderate…”
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Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations by Savoia, Anna, Dufour, Carlo, Locatelli, Franco, Noris, Patrizia, Ambaglio, Chiara, Rosti, Vittorio, Zecca, Marco, Ferrari, Simona, di Bari, Filomena, Corcione, Anna, Di Stazio, Mariateresa, Seri, Marco, Balduini, Carlo L

“…From Medical Genetics, Department of Reproductive and Developmental Science, IRCCS Burlo Garofolo Children’s Hospital, University of Trieste, Italy (AS,MDS);…”
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Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA by Martinelli, Marcella, Di Stazio, Mariateresa, Scapoli, Luca, Marchesini, Jlenia, Di Bari, Filomena, Pezzetti, Furio, Carinci, Francesco, Palmieri, Annalisa, Carinci, Paolo, Savoia, Anna

“…Non-syndromic cleft lip with or without palate (CL/P) is one of the most common malformations among live births, but most of the genetic components and…”
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Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease by Pecci, Alessandro, Panza, Emanuele, Pujol-Moix, Núria, Klersy, Catherine, Di Bari, Filomena, Bozzi, Valeria, Gresele, Paolo, Lethagen, Stefan, Fabris, Fabrizio, Dufour, Carlo, Granata, Antonio, Doubek, Michael, Pecoraro, Carmine, Koivisto, Pasi A., Heller, Paula G., Iolascon, Achille, Alvisi, Patrizia, Schwabe, Dirk, De Candia, Erica, Rocca, Bianca, Russo, Umberto, Ramenghi, Ugo, Noris, Patrizia, Seri, Marco, Balduini, Carlo L., Savoia, Anna

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Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease by Pecci, Alessandro, Panza, Emanuele, Pujol-Moix, Núria, Klersy, Catherine, Di Bari, Filomena, Bozzi, Valeria, Gresele, Paolo, Lethagen, Stefan, Fabris, Fabrizio, Dufour, Carlo, Granata, Antonio, Doubek, Michael, Pecoraro, Carmine, Koivisto, Pasi A, Heller, Paula G, Iolascon, Achille, Alvisi, Patrizia, Schwabe, Dirk, De Candia, Erica, Rocca, Bianca, Russo, Umberto, Ramenghi, Ugo, Noris, Patrizia, Seri, Marco, Balduini, Carlo L, Savoia, Anna

“…MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA…”
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Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients by Noris, P, Pecci, A, Di Bari, F, Di Stazio, MT, Di Pumpo, M, Ceresa, IF, Arezzi, N, Ambaglio, C, Savoia, A, Balduini, CL

“…Department of Internal Medicine, IRCCS Policlinico San Matteo-University of Pavia, Italy. BACKGROUND AND OBJECTIVES: The Italian Gruppo di Studio delle…”
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Dominant inheritance of a novel integrin {beta}3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families by Gresele, Paolo, Falcinelli, Emanuela, Giannini, Silvia, D'Adamo, Pio, D'Eustacchio, Angela, Corazzi, Teresa, Mezzasoma, Anna Maria, Di Bari, Filomena, Guglielmini, Giuseppe, Cecchetti, Luca, Noris, Patrizia, Balduini, Carlo L, Savoia, Anna

“…1 Division of Internal and Cardiovascular Medicine, Department of Internal Medicine, University of Perugia, Perugia 2 Medical Genetics, Department of…”
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Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene by SERI, Marco, SAVINO, Maria, LANDOLFI, Raffaele, BALDUINI, Carlo L, ZELANTE, Leopoldo, RAVAZZOLO, Roberto, RENIERI, Alessandra, SAVOIA, Anna, BORDO, Domenico, CUSANO, Roberto, ROCCA, Bianca, MELONI, Ilaria, DI BARI, Filomena, KOIVISTO, Pasi A, BOLOGNESI, Martino, GHIGGERI, Gian Marco

“…Epstein syndrome (EPTS) is an autosomal dominant disease characterized by nephritis, mild hearing loss, and thrombocytopenia with giant platelets. Renal and…”
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Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia by Gangarossa, Simone, Seri, Marco, Pecci, Alessandro, Di Bari, Filomena, Cusano, Roberto, Balduini, Carlo, Gasparini, Paolo, Savoia, Anna

“…We studied a family with a suspected diagnosis of MYH9-related disease, which is one of the most common forms of autosomal dominant macrothrombocytopenias…”
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OR-41: Gadolinium-enhanced magnetic resonance (Gd-MR) as first approach in the diagnosis of renal artery stenosis by Rubbiani, Elisabetta, Giovannone, Carmela, Di Bari, Filomena, Inguaggiato, Paola, Albertazzi, Alberto, Colopi, Stefano, Cerofolini, Emilio, Marchetti, Mauro, Gallo, Ennio

“…End stage renal disease is caused by ischemic nephropathy almost in 22% of patients over 50 years old starting hemodialysis treatment. The early diagnosis…”
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Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families by Gresele, Paolo, Falcinelli, Emanuela, Giannini, Silvia, D'Adamo, Pio, D'Eustacchio, Angela, Corazzi, Teresa, Mezzasoma, Anna Maria, Di Bari, Filomena, Guglielmini, Giuseppe, Cecchetti, Luca, Noris, Patrizia, Balduini, Carlo L, Savoia, Anna

“…Defects of integrin alpha(IIb)beta(3) are typical of Glanzmann's thrombasthenia, an inherited autosomal recessive bleeding disorder characterized by the…”
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Gadolinium-enhanced magnetic resonance (Gd-MR) as first approach in the diagnosis of renal artery stenosis by Rubbiani, Elisabetta, Giovannone, Carmela, Di Bari, Filomena, Inguaggiato, Paola, Albertazzi, Alberto, Colopi, Stefano, Cerofolini, Emilio, Marchetti, Mauro, Gallo, Ennio

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MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness by Seri, Marco, Pecci, Alessandro, Di Bari, Filomena, Cusano, Roberto, Savino, Maria, Panza, Emanuele, Nigro, Alessandra, Noris, Patrizia, Gangarossa, Simone, Rocca, Bianca, Gresele, Paolo, Bizzaro, Nicola, Malatesta, Paola, Koivisto, Pasi A, Longo, Ilaria, Musso, Roberto, Pecoraro, Carmine, Iolascon, Achille, Magrini, Umberto, Rodriguez Soriano, Juan, Renieri, Alessandra, Ghiggeri, Gian Marco, Ravazzolo, Roberto, Balduini, Carlo L, Savoia, Anna

“…May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are autosomal dominant macrothrombocytopenias distinguished by different…”
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