Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis

by Diociaiuti, Andrea, El Hachem, May, Pisaneschi, Elisa, Giancristoforo, Simona, Genovese, Silvia, Sirleto, Pietro, Boldrini, Renata, Angioni, Adriano
Published 2016

Usp7 protects genomic stability by regulating Bub3

by Giovinazzi, Serena, Sirleto, Pietro, Aksenova, Vasilisa, Morozov, Viacheslav M., Zori, Roberto, Reinhold, William C., Ishov, Alexander M.
Published 2014

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

by Roberti, Maria Cristina, Surace, Cecilia, Digilio, Maria Cristina, D'Elia, Gemma, Sirleto, Pietro, Capolino, Rossella, Lombardo, Antonietta, Tomaiuolo, Anna Cristina, Petrocchi, Stefano, Angioni, Adriano
Published 2011

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6

by Ciocca, Laura, Surace, Cecilia, Digilio, Maria Cristina, Roberti, Maria Cristina, Sirleto, Pietro, Lombardo, Antonietta, Russo, Serena, Brizi, Valerio, Grotta, Simona, Cini, Claudio, Angioni, Adriano
Published 2013

High-Resolution Array CGH Profiling Identifies Na/K Transporting ATPase Interacting 2 (NKAIN2) as a Predisposing Candidate Gene in Neuroblastoma

by Romania, Paolo, Castellano, Aurora, Surace, Cecilia, Citti, Arianna, De Ioris, Maria Antonietta, Sirleto, Pietro, De Mariano, Marilena, Longo, Luca, Boldrini, Renata, Angioni, Adriano, Locatelli, Franco, Fruci, Doriana
Published 2013

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

by Pisaneschi, Elisa, Sirleto, Pietro, Lepri, Francesca Romana, Genovese, Silvia, Dentici, Maria Lisa, Petrocchi, Stefano, Angioni, Adriano, Digilio, Maria Cristina, Dallapiccola, Bruno
Published 2015

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

by Lepri, Francesca Romana, Scavelli, Rossana, Digilio, Maria Cristina, Gnazzo, Maria, Grotta, Simona, Dentici, Maria Lisa, Pisaneschi, Elisa, Sirleto, Pietro, Capolino, Rossella, Baban, Anwar, Russo, Serena, Franchin, Tiziana, Angioni, Adriano, Dallapiccola, Bruno
Published 2014

Biological, Functional and Genetic Characterization of Bone Marrow-Derived Mesenchymal Stromal Cells from Pediatric Patients Affected by Acute Lymphoblastic Leukemia

by Conforti, Antonella, Biagini, Simone, Del Bufalo, Francesca, Sirleto, Pietro, Angioni, Adriano, Starc, Nadia, Li Pira, Giuseppina, Moretta, Francesca, Proia, Alessandra, Contoli, Benedetta, Genovese, Silvia, Ciardi, Claudia, Avanzini, Maria Antonietta, Rosti, Vittorio, Lo-Coco, Francesco, Locatelli, Franco, Bernardo, Maria Ester
Published 2013

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma

by Grotta, Simona, D’Elia, Gemma, Scavelli, Rossana, Genovese, Silvia, Surace, Cecilia, Sirleto, Pietro, Cozza, Raffaele, Romanzo, Antonino, De Ioris, Maria Antonietta, Valente, Paola, Tomaiuolo, Anna Cristina, Lepri, Francesca Romana, Franchin, Tiziana, Ciocca, Laura, Russo, Serena, Locatelli, Franco, Angioni, Adriano
Published 2015

Telomere shortening and telomere position effect in mild ring 17 syndrome

by Surace, Cecilia, Berardinelli, Francesco, Masotti, Andrea, Roberti, Maria Cristina, Da Sacco, Letizia, D’Elia, Gemma, Sirleto, Pietro, Digilio, Maria Cristina, Cusmai, Raffaella, Grotta, Simona, Petrocchi, Stefano, Hachem, May El, Pisaneschi, Elisa, Ciocca, Laura, Russo, Serena, Lepri, Francesca Romana, Sgura, Antonella, Angioni, Adriano
Published 2014