Multiplex Ligation-Dependent Probe Amplification Analysis of GATA4 Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease

by Guida, Valentina, Lepri, Francesca, Vijzelaar, Raymon, De Zorzi, Andrea, Versacci, Paolo, Digilio, Maria Cristina, Marino, Bruno, De Luca, Alessandro, Dallapiccola, Bruno
Published 2010

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

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

Spinal ependymoma in a patient with Kabuki syndrome: a case report

by Roma, Davide, Palma, Paolo, Capolino, Rossella, Figà-Talamanca, Lorenzo, Diomedi-Camassei, Francesca, Lepri, Francesca Romana, Digilio, Maria Cristina, Marras, Carlo Efisio, Messina, Raffaella, Carai, Andrea, Randi, Franco, Mastronuzzi, Angela
Published 2015

Clinical presentation and cytokine production abnormalities in a cohort of patients carrying NLRP12 gene variants

by Insalaco, Antonella, Raganelli, Luigi, Pardeo, Manuela, Messia, Virginia, Marafon, Denise Pires, Lepri, Francesca Romana, Pisaneschi, Elisa, Bracaglia, Claudia, Meli, Lidia, Gerloni, Valeria, Nicolai, Rebecca, Cortis, Elisabetta, De Benedetti, Fabrizio, Prencipe, Giusi
Published 2014

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

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations

by Lepri, Francesca, De Luca, Alessandro, Stella, Lorenzo, Rossi, Cesare, Baldassarre, Giuseppina, Pantaleoni, Francesca, Cordeddu, Viviana, Williams, Bradley J, Dentici, Maria L, Caputo, Viviana, Venanzi, Serenella, Bonaguro, Michela, Kavamura, Ines, Faienza, Maria F, Pilotta, Alba, Stanzial, Franco, Faravelli, Francesca, Gabrielli, Orazio, Marino, Bruno, Neri, Giovanni, Silengo, Margherita Cirillo, Ferrero, Giovanni B, Torrrente, Isabella, Selicorni, Angelo, Mazzanti, Laura, Digilio, Maria C, Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D, Tartaglia, Marco
Published 2011

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

by Flex, Elisabetta, Jaiswal, Mamta, Pantaleoni, Francesca, Martinelli, Simone, Strullu, Marion, Fansa, Eyad K., Caye, Aurélie, De Luca, Alessandro, Lepri, Francesca, Dvorsky, Radovan, Pannone, Luca, Paolacci, Stefano, Zhang, Si-Cai, Fodale, Valentina, Bocchinfuso, Gianfranco, Rossi, Cesare, Burkitt-Wright, Emma M.M., Farrotti, Andrea, Stellacci, Emilia, Cecchetti, Serena, Ferese, Rosangela, Bottero, Lisabianca, Castro, Silvana, Fenneteau, Odile, Brethon, Benoît, Sanchez, Massimo, Roberts, Amy E., Yntema, Helger G., Van Der Burgt, Ineke, Cianci, Paola, Bondeson, Marie-Louise, Cristina Digilio, Maria, Zampino, Giuseppe, Kerr, Bronwyn, Aoki, Yoko, Loh, Mignon L., Palleschi, Antonio, Di Schiavi, Elia, Carè, Alessandra, Selicorni, Angelo, Dallapiccola, Bruno, Cirstea, Ion C., Stella, Lorenzo, Zenker, Martin, Gelb, Bruce D., Cavé, Hélène, Ahmadian, Mohammad R., Tartaglia, Marco
Published 2014