Clinical and molecular characterization of a de novo 19p13.3 microdeletion

by Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, Stallone, Raffaella, Palladino, Teresa, Zelante, Leopoldo, Carella, Massimo
Published in Mol Cytogenet (2016)

Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing

by Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, di Muro, Ester, Castellana, Stefano, Bisceglia, Luigi, Mazza, Tommaso, Carella, Massimo, Castori, Marco
Published in Genes (Basel) (2020)

Double missense mutations in cardiac myosin‐binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression t...

by Mastroianno, Sandra, Palumbo, Pietro, Castellana, Stefano, Leone, Maria Pia, Massaro, Raimondo, Potenza, Domenico Rosario, Mazza, Tommaso, Russo, Aldo, Castori, Marco, Carella, Massimo, Di Stolfo, Giuseppe
Published in Ann Noninvasive Electrocardiol (2019)

Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy...

by Leone, Maria Pia, Palumbo, Pietro, Saenen, Johan, Mastroianno, Sandra, Castellana, Stefano, Amico, Cesare, Mazza, Tommaso, Potenza, Domenico Rosario, Petracca, Antonio, Castori, Marco, Carella, Massimo, Di Stolfo, Giuseppe
Published in Front Cardiovasc Med (2021)

Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma

by Cinque, Luigia, Pugliese, Flavia, Clemente, Celeste, Castellana, Stefano, Leone, Maria Pia, de Martino, Danilo, Balsamo, Teresa, Battista, Claudia, Biagini, Tommaso, Graziano, Paolo, Castori, Marco, Scillitani, Alfredo, Guarnieri, Vito
Published in Int J Endocrinol (2020)

The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically i...

by Leone, Maria Pia, Palumbo, Pietro, Palumbo, Orazio, Di Muro, Ester, Chetta, Massimiliano, Laforgia, Nicola, Resta, Nicoletta, Stella, Alessandro, Castellana, Stefano, Mazza, Tommaso, Castori, Marco, Carella, Massimo, Bukvic, Nenad
Published in Ital J Pediatr (2020)