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

por Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, Stallone, Raffaella, Palladino, Teresa, Zelante, Leopoldo, Carella, Massimo
Publicado 2016

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

por Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, di Muro, Ester, Castellana, Stefano, Bisceglia, Luigi, Mazza, Tommaso, Carella, Massimo, Castori, Marco
Publicado 2020

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

por 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
Publicado 2021

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

por 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
Publicado 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...

por 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
Publicado 2020

Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family

por Ortore, Rocco Pio, Leone, Maria Pia, Palumbo, Orazio, Petracca, Antonio, Trecca, Eleonora M. C., D’Ecclesia, Aurelio, Vigliaroli, Ciro Lucio, Micale, Lucia, Longo, Francesco, Melchionda, Salvatore, Castori, Marco
Publicado 2021