Search Results - "Banaudi, Elena"

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results by Calcagni, Giulio, Limongelli, Giuseppe, D'Ambrosio, Angelo, Gesualdo, Francesco, Digilio, M. Cristina, Baban, Anwar, Albanese, Sonia B., Versacci, Paolo, De Luca, Enrica, Ferrero, Giovanni B., Baldassarre, Giuseppina, Agnoletti, Gabriella, Banaudi, Elena, Marek, Jan, Kaski, Juan P., Tuo, Giulia, Russo, M. Giovanna, Pacileo, Giuseppe, Milanesi, Ornella, Messina, Daniela, Marasini, Maurizio, Cairello, Francesca, Formigari, Roberto, Brighenti, Maurizio, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno

“…RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to…”
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Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results by Calcagni, Giulio, Limongelli, Giuseppe, D'Ambrosio, Angelo, Gesualdo, Francesco, Digilio, Maria Cristina, Baban, Anwar, Albanese, Sonia B., Versacci, Paolo, De Luca, Enrica, Ferrero, Giovanni B., Baldassarre, Giuseppina, Agnoletti, Gabriella, Banaudi, Elena, Marek, Jan, Kaski, Juan P., Tuo, Giulia, Russo, Maria Giovanna, Pacileo, Giuseppe, Milanesi, Ornella, Messina, Daniela, Marasini, Maurizio, Cairello, Francesca, Formigari, Roberto, Brighenti, Maurizio, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno

“…A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade…”
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Short QT syndrome in infancy. Therapeutic drug monitoring of hydroquinidine in a newborn infant by Pirro, Elisa, De Francia, Silvia, Banaudi, Elena, Riggi, Chiara, De Martino, Francesca, Piccione, Francesca M., Giustetto, Carla, Racca, Silvia, Agnoletti, Gabriella, Di Carlo, Francesco

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Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant by Gazzin, Andrea, Fornari, Federico, Niceta, Marcello, Leoni, Chiara, Dentici, Maria Lisa, Carli, Diana, Villar, Anna Maria, Calcagni, Giulio, Banaudi, Elena, Massuras, Stefania, Cardaropoli, Simona, Airulo, Elena, Daniele, Paola, Monda, Emanuele, Limongelli, Giuseppe, Riggi, Chiara, Zampino, Giuseppe, Digilio, Maria Cristina, De Luca, Alessandro, Tartaglia, Marco, Ferrero, Giovanni Battista, Mussa, Alessandro

“…Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality in Noonan syndrome (NS). Gain-of-function variants in RAF1 are associated…”
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Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation by Baldassarre, Giuseppina, Mussa, Alessandro, Banaudi, Elena, Rossi, Cesare, Tartaglia, Marco, Silengo, Margherita, Ferrero, Giovanni Battista

“…Noonan‐like syndrome with loose anagen hair (NS/LAH; OMIM 607721) is a developmental disorder clinically related to Noonan syndrome (NS) and characterized by…”
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Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study by Calcagni, Giulio, Gagliostro, Giulia, Limongelli, Giuseppe, Unolt, Marta, De Luca, Enrica, Digilio, Maria C., Baban, Anwar, Albanese, Sonia B., Ferrero, Giovanni B., Baldassarre, Giuseppina, Agnoletti, Gabriella, Banaudi, Elena, Marek, Jan, Kaski, Juan P., Tuo, Giulia, Marasini, Maurizio, Cairello, Francesca, Madrigali, Andrea, Pacileo, Giuseppe, Russo, Maria G., Milanesi, Ornella, Formigari, Roberto, Brighenti, Maurizio, Ragni, Luca, Donti, Andrea, Drago, Fabrizio, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno, Versacci, Paolo

“…Background RASopathies are a set of relatively common autosomal dominant clinically and genetically heterogeneous disorders. Cardiac outcomes in terms of…”
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Clinical and molecular characterization of 40 patients with Noonan syndrome by Ferrero, Giovanni Battista, Baldassarre, Giuseppina, Delmonaco, Angelo Giovanni, Biamino, Elisa, Banaudi, Elena, Carta, Claudio, Rossi, Cesare, Silengo, Margherita Cirillo

“…Abstract Noonan syndrome (NS, OMIM 163950) is an autosomal dominant disorder, with a prevalence at birth of 1:1000–1:2500 live births, characterized by short…”
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Etiological diagnosis of bloodstream infections through a multiplex real-time polymerase chain reaction test in pediatric patients: a case series from a tertiary Italian hospital by Calitri, Carmelina, Denina, Marco, Scolfaro, Carlo, Garazzino, Silvia, Licciardi, Francesco, Burdino, Elisa, Allice, Tiziano, Carraro, Francesca, De Intinis, Gianfranco, Ghisetti, Valeria, Tovo, Pier-Angelo

“…Abstract Background: The outcome of bloodstream infections (BSIs) is strongly related to microbiological diagnosis. Several factors may reduce blood culture…”
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Presenting phenotype and clinical evaluation in a cohort of 22 Williams–Beuren syndrome patients by Ferrero, Giovanni Battista, Biamino, Elisa, Sorasio, Lorena, Banaudi, Elena, Peruzzi, Licia, Forzano, Serena, Verdun di Cantogno, Ludovica, Silengo, Margherita Cirillo

“…Abstract Williams–Beuren syndrome (WS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500–1/20,000 live…”
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Complete transposition of the great arteries: Patterns of congenital heart disease in familial precurrence by DIGILIO, Maria Cristina, CASEY, Brett, TOSCANO, Alessandra, CALABRO, Raffaele, PACILEO, Giuseppe, MARASINI, Maurizio, BANAUDI, Elena, GIANNOTTI, Aldo, DALLAPICCOLA, Bruno, MARINO, Bruno

“…Transposition of the great arteries (TGA) is considered to be associated only rarely with genetic syndromes and to have a low risk of precurrence among…”
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ECG in noonan syndrome: beyond the "normal abnormalities" by Mazza, Giuseppe A, Banaudi, Elena, Ferrero, Giovanni B, Baldassarre, Giuseppina, Agnoletti, Gabriella

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Abstract 14870: Clinical Impact of Cardiovascular Diseases in Rasopathies by Calcagni, Giulio, Limongelli, Giuseppe, d’Ambrosio, Angelo, Gesualdo, Francesco, Digilio, Maria Cristina, Baban, Anwar, Albanese, Sonia, Versacci, Paolo, de Luca, Enrica, Ferrero, Giovanni Battista, Baldassarre, Giusi, Agnoletti, Gabriella, Banaudi, Elena, Marek, Jan, Kaski, Juan, Tuo, Giulia, Russo, Maria Giovanna, Pacileo, Giuseppe, Milanesi, Ornella, Messina, Daniela, Marasini, Maurizio, Cairello, Francesca, Formigari, Roberto, Brighenti, Maurizio, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno

“…Background— RASopathies constitute a family of disorders with a specific cardiac phenotype, but a detailed characterization of cardiac morbidity and mortality…”
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Familial recurrence of transposition of the great arteries by Digilio, Maria Cristina, Marino, Bruno, Banaudi, Elena, Marasini, Maurizio, Dallapiccola, Bruno

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