Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy

by Liliana Guerra, Monia Magliozzi, Anwar Baban, Corrado Di Mambro, Giovanni Di Zenzo, Antonio Novelli, May El Hachem, Giovanna Zambruno, Daniele Castiglia
Published 2019-05-01

DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations

by Monia Magliozzi, Maria Piane, Isabella Torrente, Lorenzo Sinibaldi, Giovanni Rizzo, Camilla Savio, Patrizia Lulli, Alessandro De Luca, Bruno Dallapiccola, Luciana Chessa
Published 2006-01-01

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 2020-07-01

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision

by Anwar Baban, Marianna Cicenia, Monia Magliozzi, Maria Gnazzo, Nicoletta Cantarutti, Massimo Stefano Silvetti, Rachele Adorisio, Bruno Dallapiccola, Enrico Bertini, Antonio Novelli, Fabrizio Drago
Published 2020-07-01

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

by Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C. Dietz, Fabrizio Drago, Antonio Novelli, Antonio Amodeo
Published 2018-09-01