Search Results - "DISABELLA, Eliana"

When Should Cardiologists Suspect Anderson-Fabry Disease? by Gambarin, Fabiana I., MD, Disabella, Eliana, PhD, Narula, Jagat, MD, Diegoli, Marta, PhD, Grasso, Maurizia, PhD, Serio, Alessandra, MD, Favalli, B.M.E. Valentina, Agozzino, Manuela, MD, Tavazzi, Luigi, MD, Fraser, Alan G., MD, Arbustini, Eloisa, MD

“…Anderson-Fabry disease is a lysosomal storage disorder caused by α-galactosidase defects and progressive intracellular accumulation of globotriaosylceramide…”
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Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report by Concolino, Daniela, Rapsomaniki, Maria, Disabella, Eliana, Sestito, Simona, Pascale, Maria G, Moricca, Maria T, Bonapace, Giuseppe, Arbustini, Elisea, Strisciuglio, Pietro

“…The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn error of the…”
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Pulmonary emphysema not combined with lung fibrosis in systemic sclerosis by Franconeri, Andrea, Marasco, Emiliano, Dore, Roberto, Codullo, Veronica, Calliada, Fabrizio, Disabella, Eliana, Meloni, Federica, Zanframundo, Giovanni, Montecucco, Carlomaurizio, Valentini, Adele, Cavagna, Lorenzo

“…Interstitial Lung Disease (ILD) is a common finding of Systemic Sclerosis (SSc) mainly presenting in the form of Nonspecific Interstitial Pneumonia (NSIP) and…”
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Spectrum of phenotype of ventricular noncompaction in adults by Di Toro, Alessandro, Urtis, Mario, Giuliani, Lorenzo, Pizzoccheri, Roberto, Aliberti, Flaminia, Smirnova, Alexandra, Grasso, Maurizia, Disabella, Eliana, Arbustini, Eloisa

“…LVNC/LVHT is characterized by the presence of i) prominent left ventricular (LV) trabeculae; ii) a thin compacted layer; iii) deep inter-trabecular recesses…”
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Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics by Favalli, Valentina, PhD, Disabella, Eliana, BD, Molinaro, Mariadelfina, BD, Tagliani, Marilena, BD, Scarabotto, Anna, BD, Serio, Alessandra, MD, Grasso, Maurizia, PhD, Narula, Nupoor, MD, Giorgianni, Carmela, BS, Caspani, Clelia, BD, Concardi, Monica, BS, Agozzino, Manuela, MD, Giordano, Calogero, BD, Smirnova, Alexandra, BD, Kodama, Takahide, MD, Giuliani, Lorenzo, BS, Antoniazzi, Elena, MD, Borroni, Riccardo G., MD, Vassallo, Camilla, MD, Mangione, Filippo, MD, Scelsi, Laura, MD, Ghio, Stefano, MD, Pellegrini, Carlo, MD, Zedde, Marialuisa, MD, Fancellu, Laura, MD, Sechi, GianPietro, MD, Ganau, Antonello, MD, Piga, Stefania, MD, Colucci, Annarita, MD, Concolino, Daniela, MD, Di Mascio, Maria Teresa, MD, Toni, Danilo, MD, Diomedi, Marina, MD, Rapezzi, Claudio, MD, Biagini, Elena, MD, Marini, Massimiliano, MD, Rasura, Maurizia, MD, Melis, Maurizio, MD, Nucera, Antonia, MD, Guidetti, Donata, MD, Mancuso, Michelangelo, MD, Scoditti, Umberto, MD, Cassini, Pamela, BD, Narula, Jagat, MD, Tavazzi, Luigi, MD, Arbustini, Eloisa, MD

“…Abstract Background Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A ( GLA ) gene. AFD…”
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MUTATIONS IN SMOOTH MUSCLE AORTIC ALPHA-ACTIN GENE ARE ASSOCIATED WITH FAMILIAL THORACIC AORTIC ANEURYSM AND DISSECTION by Narula, Nupoor, Disabella, Eliana, Favalli, Valentina, Serio, Alessandra, Grasso, Maurizia, Giorgianni, Carmelina, Fiantanese, Tonia, Kodama, Takahide, Arbustini, Eloisa

“…Extravascular traits were found in different organs/systems: ocular (iris flocculi 6; iris hypoplasia 3; myopia 10; retinal detachment 1; maculopathy 1);…”
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Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2) by Disabella, Eliana, Grasso, Maurizia, Gambarin, Fabiana Isabella, Narula, Nupoor, Dore, Roberto, Favalli, Valentina, Serio, Alessandra, Antoniazzi, Elena, Mosconi, Mario, Pasotti, Michele, Odero, Attilio, Arbustini, Eloisa

“…To evaluate the prevalence and phenotype of smooth muscle alpha-actin (ACTA2) mutations in non-syndromic thoracic aortic aneurysms and dissections (TAAD)…”
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Multivessel endovascular therapy for undiagnosed vascular type Ehlers-Danlos syndrome. Successful percutaneous transcatheter coil embolization of hepatic artery pseudoaneurysm with stenting of right renal and iliac arteries in emergency setting by Moramarco, Lorenzo Paolo, Capodaglio, Carlo Alberto, Quaretti, Pietro, Cionfoli, Nicola, Fiorina, Ilaria, Disabella, Eliana, D'agostino, Antonio Mauro, Urtis, Mario, Arbustini, Eloisa

“…Among Ehlers-Danlos syndromes, the vascular type is the most severe because of its vascular complications. Transcatheter embolization of medium-sized arteries…”
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The shortness of Pygmies is associated with severe under-expression of the growth hormone receptor by Bozzola, Mauro, Travaglino, Paola, Marziliano, Nicola, Meazza, Cristina, Pagani, Sara, Grasso, Maurizia, Tauber, Maithè, Diegoli, Marta, Pilotto, Andrea, Disabella, Eliana, Tarantino, Paolo, Brega, Agnese, Arbustini, Eloisa

“…The stature is a highly heritable trait controlled by genetic and environmental factors. The African Pygmies represent a paradigmatic example of…”
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Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies by Arbustini, Eloisa, Grasso, Maurizia, Ansaldi, Silvia, Malattia, Clara, Pilotto, Andrea, Porcu, Emanuele, Disabella, Eliana, Marziliano, Nicola, Pisani, Angela, Lanzarini, Luca, Mannarino, Savina, Larizza, Daniela, Mosconi, Mario, Antoniazzi, Elena, Zoia, M. Cristina, Meloni, Giulia, Magrassi, Lorenzo, Brega, Agnese, Bedeschi, Maria Francesca, Torrente, Isabella, Mari, Francesca, Tavazzi, Luigi

“…Marfan Syndrome (MFS) is an autosomal dominant disorder of the connective tissue due to mutations of Fibrillin‐1 gene (FBN1) in more than 90% of cases and…”
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Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects by Disabella, Eliana, Grasso, Maurizia, Marziliano, Nicola, Ansaldi, Silvia, Lucchelli, Claudia, Porcu, Emanuele, Tagliani, Marilena, Pilotto, Andrea, Diegoli, Marta, Lanzarini, Luca, Malattia, Clara, Pelliccia, Antonio, Ficcadenti, Anna, Gabrielli, Orazio, Arbustini, Eloisa

“…TGF-beta-receptor 2 (TGFBR2) gene defects have been recently associated with Marfan syndrome (MFS) with prominent cardio-skeletal phenotype in patients with…”
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Transcriptomic and proteomic analysis in the cardiovascular setting: unravelling the disease? by Marziliano, Nicola, Grasso, Maurizia, Pilotto, Andrea, Porcu, Emanuele, Tagliani, Marilena, Disabella, Eliana, Diegoli, Marta, Pasotti, Michele, Favalli, Valentina, Serio, Alessandra, Gambarin, Fabiana, Tavazzi, Luigi, Klersy, Catherine, Arbustini, Eloisa

“…Whole gene expression analysis through microarray technologies revolutionized the manner of identifying changes in biological events and complex diseases, such…”
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CO-EXISTENCE OF PHENYLKETONURIA AND FABRY DISEASE ON A 3-YEAR-OLD BOY: CASE REPORT by Daniela Concolino, Maria Rapsomaniki, Eliana Disabella, Simona Sestito, Maria G Pascale, Maria T Moricca, Giuseppe Bonapace, Elisea Arbustini, Pietro Strisciuglio

“…Background: The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn…”
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Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction tissue defect 1 by Arbustini Eloisa, A E, Pilotto, Andrea, Porcu, Emanuele, Landolina, Maurizio, Pasotti, Michele, Lucchelli, Claudia, Disabella, Eliana, Tavazzi, Luigi

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Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 qene defects by DISABELLA, Eliana, GRASSO, Maurizia, MALATTIA, Clara, PELLICCIA, Antonio, FICCADENTI, Anna, GABRIELLI, Orazio, ARBUSTINI, Eloisa, MARZILIANO, Nicola, ANSALDI, Silvia, LUCCHELLI, Claudia, PORCU, Emanuele, TAGLIANI, Marilena, PILOTTO, Andrea, DIEGOLI, Marta, LANZARINI, Luca

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Pro-inflammatory variants of DRB1 and RAGE genes are associated with susceptibility to pediatric type 1 diabetes: a new hypothesis on the adaptive role of autoimmunity by Damiani, Giuseppe, Campo, Ilaria, Zorzetto, Michele, Bozzi, Valeria, Disabella, Eliana, Caroli, Anna, Ferrarotti, Ilaria, D'Annunzio, Giuseppe, Pasi, Annamaria, Martinetti, Miryam, Cuccia, Mariaclara

“…Functional polymorphisms of two MHC genes (DRB1 and RAGE) were analysed in Italian pediatric patients with Type 1 diabetes and in a control group. The diabetic…”
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Multivessel endovascular therapy for undiagnosed vascular type Ehlers-Danlos syndrome. Successful percutaneous transcatheter coil embolization of hepatic artery pseudoaneurysm with stenting of right renal and iliac arteries in emergency setting by Moramarco, Lorenzo Paolo, Capodaglio, Carlo Alberto, Quaretti, Pietro, Cionfoli, Nicola, Fiorina, Ilaria, Disabella, Eliana, D'agostino, Antonio Mauro, Urtis, Mario, Arbustini, Eloisa

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