Sometimes it is better to wait: First Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosis

por Salvatori, Guglielmo, Foligno, Silvia, Sirleto, Pietro, Genovese, Silvia, Russo, Serena, Coletti, Valentina, Dotta, Andrea, Luciani, Matteo
Publicado 2017

Usp7 protects genomic stability by regulating Bub3

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

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis

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

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

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

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

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

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

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

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

por 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
Publicado 2013

Resistance to neoplastic transformation of ex-vivo expanded human mesenchymal stromal cells after exposure to supramaximal physical and chemical stress

por Conforti, Antonella, Starc, Nadia, Biagini, Simone, Tomao, Luigi, Pitisci, Angela, Algeri, Mattia, Sirleto, Pietro, Novelli, Antonio, Grisendi, Giulia, Candini, Olivia, Carella, Cintia, Dominici, Massimo, Locatelli, Franco, Bernardo, Maria Ester
Publicado 2016

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

por 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
Publicado 2014

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders

por Boonsawat, Paranchai, Horn, Anselm H. C., Steindl, Katharina, Baumer, Alessandra, Joset, Pascal, Kraemer, Dennis, Bahr, Angela, Ivanovski, Ivan, Cabello, Elena M., Papik, Michael, Zweier, Markus, Oneda, Beatrice, Sirleto, Pietro, Burkhardt, Tilo, Sticht, Heinrich, Rauch, Anita
Publicado 2022

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

por 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
Publicado 2013

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

por 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
Publicado 2015

Telomere shortening and telomere position effect in mild ring 17 syndrome

por 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
Publicado 2014