Search Results - Monia Magliozzi

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  1. 1

    Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature by Flaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, Monia Magliozzi, Annabella Braguglia, Laura Valfrè, Alessandra Toscano, Andrea Dotta, Alessandra Di Pede

    Published in Italian Journal of Pediatrics (2024-09-01)
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  2. 2

    What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs by Silvia Amodeo, Giuseppe Vitrano, Melania Guardino, Giuseppe Paci, Fulvio Corselli, Vincenzo Antona, Giuseppe Barrano, Monia Magliozzi, Antonio Novelli, Renato Venezia, Giovanni Corsello

    Published in Italian Journal of Pediatrics (2020-07-01)
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  3. 3

    A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report by Maria Cristina Artesani, Sara Santarsiero, Emanuela Sitzia, Francesca Romana Lepri, Monia Magliozzi, Fabio Majo, Nicola Ullmann, Alessandra Stracuzzi, Antonio Novelli, Giovanni Cristalli, Alessandro Fiocchi

    Published in Frontiers in Pediatrics (2024-05-01)
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  4. 4

    Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature by Irene Picciolli, Angelo Ratti, Berardo Rinaldi, Anwar Baban, Maria Iascone, Gaia Francescato, Alessia Cappelleri, Monia Magliozzi, Antonio Novelli, Giovanni Parlapiano, Anna Maria Colli, Nicola Persico, Stefano Carugo, Fabio Mosca, Maria Francesca Bedeschi

    Published in Italian Journal of Pediatrics (2024-08-01)
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  5. 5

    Cardiovascular Involvement in Pediatric <i>FLNC</i> Variants: A Case Series of Fourteen Patients by Anwar Baban, Viola Alesi, Monia Magliozzi, Giovanni Parlapiano, Silvia Genovese, Marianna Cicenia, Sara Loddo, Valentina Lodato, Luca Di Chiara, Fabiana Fattori, Adele D’Amico, Paola Francalanci, Antonio Amodeo, Antonio Novelli, Fabrizio Drago

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  6. 6

    ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression by Anna Guarini, Marilisa Marinelli, Simona Tavolaro, Emanuele Bellacchio, Monia Magliozzi, Sabina Chiaretti, Maria Stefania De Propris, Nadia Peragine, Simona Santangelo, Francesca Paoloni, Mauro Nanni, Ilaria Del Giudice, Francesca Romana Mauro, Isabella Torrente, Robin Foà

    Published in Haematologica (2012-01-01)
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  7. 7

    Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients by Anwar Baban, Marianna Cicenia, Monia Magliozzi, Giovanni Parlapiano, Giovanni Parlapiano, Marco Cirillo, Giulia Pascolini, Giulia Pascolini, Fabiana Fattori, Maria Gnazzo, Pasqualina Bruno, Lorenzo De Luca, Luca Di Chiara, Paola Francalanci, Bjarne Udd, Bjarne Udd, Bjarne Udd, Aurelio Secinaro, Antonio Amodeo, Enrico Silvio Bertini, Marco Savarese, Marco Savarese, Fabrizio Drago, Antonio Novelli

    Published in Frontiers in Cardiovascular Medicine (2023-07-01)
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