HGG-54. HISTOLOGICAL AND MOLECULAR CHARACTERIZATION OF HIGH-GRADE BRAIN TUMORS SECONDARY TO TOTAL BODY IRRADIATION FOR HEMATOLOGICAL MALIGNANCIES

por Miele, Evelina, Pagliara, Daria, Pedace, Lucia, Camassei, Francesca Diomedi, Cacchione, Antonella, Colafati, Giovanna Stefania, Carai, Andrea, Locatelli, Franco, Mastronuzzi, Angela
Publicado 2020

MBCL-18. ANALYSIS OF DNA METHYLATION PROFILES OF PEDIATRIC MEDULLOBLASTOMAS: EXPERIENCE AT THE BAMBINO GESÙ CHILDREN’S HOSPITAL

por Miele, Evelina, Petruzzellis, Giuseppe, Pedace, Lucia, Cacchione, Antonella, Carai, Andrea, Colafati, Giovanna Stefania, Camassei, Francesca Diomedi, Rossi, Sabrina, Locatelli, Franco, Mastronuzzi, Angela
Publicado 2020

Role of DNA Methylation Profile in Diagnosing Astroblastoma: A Case Report and Literature Review

por Petruzzellis, Giuseppe, Alessi, Iside, Colafati, Giovanna Stefania, Diomedi-Camassei, Francesca, Ciolfi, Andrea, Pedace, Lucia, Cacchione, Antonella, Carai, Andrea, Tartaglia, Marco, Mastronuzzi, Angela, Miele, Evelina
Publicado 2019

DNA Methylation Profiling for Diagnosing Undifferentiated Sarcoma with Capicua Transcriptional Receptor (CIC) Alterations

por Miele, Evelina, De Vito, Rita, Ciolfi, Andrea, Pedace, Lucia, Russo, Ida, De Pasquale, Maria Debora, Di Giannatale, Angela, Crocoli, Alessandro, Angelis, Biagio De, Tartaglia, Marco, Alaggio, Rita, Milano, Giuseppe Maria
Publicado 2020

Rosette-Forming Glioneuronal Tumor of the Fourth Ventricle: A Case of Relapse Treated with Proton Beam Therapy

por Cacchione, Antonella, Mastronuzzi, Angela, Carai, Andrea, Colafati, Giovanna Stefania, Diomedi-Camassei, Francesca, Marrazzo, Antonio, Carboni, Alessia, Miele, Evelina, Pedace, Lucia, Tartaglia, Marco, Amichetti, Maurizio, Fellin, Francesco, Lodi, Mariachiara, Vennarini, Sabina
Publicado 2021

PATH-19. MOLECULAR CLASSIFICATION BASED ON THE DNA METHYLATION PROFILE OF CENTRAL NERVOUS SYSTEM (CNS) TUMORS IN CHILDREN: TWO-YEARS EXPERIENCE AT THE BAMBINO GESÙ HOSPITAL

por Miele, Evelina, Rossi, Sabrina, Pedace, Lucia, Camassei, Francesca Diomedi, Antonelli, Manila, Cacchione, Antonella, Colafati, Giovanna Stefania, Carai, Andrea, Gianno, Francesca, Alzoubi, Hiba, Gessi, Marco, Tartaglia, Marco, Giangaspero, Felice, Locatelli, Franco, Mastronuzzi, Angela
Publicado 2020

Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling

por Lopez-Nunez, Oscar, Alaggio, Rita, John, Ivy, Ciolfi, Andrea, Pedace, Lucia, Mastronuzzi, Angela, Gianno, Francesca, Giangaspero, Felice, Rossi, Sabrina, Donofrio, Vittoria, Cinalli, Giuseppe, Surrey, Lea F., Tartaglia, Marco, Locatelli, Franco, Miele, Evelina
Publicado 2021

Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants

por Baccelli, Francesco, Leardini, Davide, Muratore, Edoardo, Messelodi, Daria, Bertuccio, Salvatore Nicola, Chiriaco, Maria, Cancrini, Caterina, Conti, Francesca, Castagnetti, Fausto, Pedace, Lucia, Pession, Andrea, Yoshimi, Ayami, Niemeyer, Charlotte, Tartaglia, Marco, Locatelli, Franco, Masetti, Riccardo
Publicado 2022

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

por Montecchiani, Celeste, Pedace, Lucia, Lo Giudice, Temistocle, Casella, Antonella, Mearini, Marzia, Gaudiello, Fabrizio, Pedroso, José L., Terracciano, Chiara, Caltagirone, Carlo, Massa, Roberto, St George-Hyslop, Peter H., Barsottini, Orlando G. P., Kawarai, Toshitaka, Orlacchio, Antonio
Publicado 2016

Modeling medulloblastoma in vivo and with human cerebellar organoids

por Ballabio, Claudio, Anderle, Marica, Gianesello, Matteo, Lago, Chiara, Miele, Evelina, Cardano, Marina, Aiello, Giuseppe, Piazza, Silvano, Caron, Davide, Gianno, Francesca, Ciolfi, Andrea, Pedace, Lucia, Mastronuzzi, Angela, Tartaglia, Marco, Locatelli, Franco, Ferretti, Elisabetta, Giangaspero, Felice, Tiberi, Luca
Publicado 2020

MODL-23. DNA METHYLATION AND COPY NUMBER VARIATION PROFILE FOR CHARACTERIZATION OF PEDIATRIC BRAIN TUMOR PRIMARY CELL LINES

por Pedace, Lucia, Vinci, Maria, Pizzi, Simone, Pericoli, Giulia, Catanzaro, Giuseppina, Abballe, Luana, Del Bufalo, Francesca, Caruana, Ignazio, Camassei, Francesca Diomedi, Rossi, Sabrina, Giangaspero, Felice, Ferretti, Elisabetta, Ciolfi, Andrea, Tartaglia, Marco, Locatelli, Franco, Mastronuzzi, Angela, Miele, Evelina
Publicado 2020

Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant

por Paparella, Roberto, Caroleo, Anna Maria, Agolini, Emanuele, Chillemi, Giovanni, Miele, Evelina, Pedace, Lucia, Rinelli, Martina, Pizzi, Simone, Boccuto, Luigi, Colafati, Giovanna Stefania, Lodi, Mariachiara, Cacchione, Antonella, Carai, Andrea, Digilio, Maria Cristina, Tomà, Paolo, Tartaglia, Marco, Mastronuzzi, Angela
Publicado 2022

TMOD-05. GENOME-WIDE DNA METHYLATION PROFILE: A POWERFUL STRATEGY TO RECAPITULATE HETEROGENEITY OF PEDIATRIC BRAIN TUMORS IN PRIMARY CELL LINES

por Pedace, Lucia, Pizzi, Simone, Vinci, Maria, Pericoli, Giulia, Catanzaro, Giuseppina, Abballe, Luana, Po, Agnese, Del Bufalo, Francesca, Rossi, Sabrina, Camassei, Francesca Diomedi, Giangaspero, Felice, Tiberi, Luca, Mastronuzzi, Angela, Ferretti, Elisabetta, Tartaglia, Marco, Locatelli, Franco, Ciolfi, Andrea, Miele, Evelina
Publicado 2021

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: eviden...

por Zuntini, Roberta, Cattani, Chiara, Pedace, Lucia, Miele, Evelina, Caraffi, Stefano Giuseppe, Gardini, Stefano, Ficarelli, Elena, Pizzi, Simone, Radio, Francesca Clementina, Barone, Angelica, Piana, Simonetta, Bertolini, Patrizia, Corradi, Domenico, Marinelli, Maria, Longo, Caterina, Motolese, Alberico, Zuffardi, Orsetta, Tartaglia, Marco, Garavelli, Livia
Publicado 2023

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

por Ciolfi, Andrea, Aref-Eshghi, Erfan, Pizzi, Simone, Pedace, Lucia, Miele, Evelina, Kerkhof, Jennifer, Flex, Elisabetta, Martinelli, Simone, Radio, Francesca Clementina, Ruivenkamp, Claudia A. L., Santen, Gijs W. E., Bijlsma, Emilia, Barge-Schaapveld, Daniela, Ounap, Katrin, Siu, Victoria Mok, Kooy, R. Frank, Dallapiccola, Bruno, Sadikovic, Bekim, Tartaglia, Marco
Publicado 2020

αβT- and B-cell-depleted HLA-haploidentical hematopoietic stem cell transplantation in children with myelodysplastic syndromes

por Merli, Pietro, Pagliara, Daria, Mina, Tommaso, Bertaina, Valentina, Li Pira, Giuseppina, Lazzaro, Stefania, Biagini, Simone, Galaverna, Federica, Strocchio, Luisa, Carta, Roberto, Catanoso, Maria Luigia, Quagliarella, Francesco, Becilli, Marco, Boccieri, Emilia, Del Bufalo, Francesca, Panigari, Arianna, Agostini, Annalisa, Pedace, Lucia, Pizzi, Simone, Perotti, Cesare, Algeri, Mattia, Zecca, Marco, Locatelli, Franco
Publicado 2022

Adult-onset KMT2B-related dystonia

por Monfrini, Edoardo, Ciolfi, Andrea, Cavallieri, Francesco, Ferilli, Marco, Soliveri, Paola, Pedace, Lucia, Erro, Roberto, Del Sorbo, Francesca, Valzania, Franco, Fioravanti, Valentina, Cossu, Giovanni, Pellegrini, Maria, Salviati, Leonardo, Invernizzi, Federica, Oppo, Valentina, Murgia, Daniela, Giometto, Bruno, Picillo, Marina, Garavaglia, Barbara, Morgante, Francesca, Tartaglia, Marco, Carecchio, Miryam, Di Fonzo, Alessio
Publicado 2022

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

por Ciolfi, Andrea, Foroutan, Aidin, Capuano, Alessandro, Pedace, Lucia, Travaglini, Lorena, Pizzi, Simone, Andreani, Marco, Miele, Evelina, Invernizzi, Federica, Reale, Chiara, Panteghini, Celeste, Iascone, Maria, Niceta, Marcello, Gavrilova, Ralitza H., Schultz-Rogers, Laura, Agolini, Emanuele, Bedeschi, Maria Francesca, Prontera, Paolo, Garibaldi, Matteo, Galosi, Serena, Leuzzi, Vincenzo, Soliveri, Paola, Olson, Rory J., Zorzi, Giovanna S., Garavaglia, Barbara M., Tartaglia, Marco, Sadikovic, Bekim
Publicado 2021

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants

por Ferilli, Marco, Ciolfi, Andrea, Pedace, Lucia, Niceta, Marcello, Radio, Francesca Clementina, Pizzi, Simone, Miele, Evelina, Cappelletti, Camilla, Mancini, Cecilia, Galluccio, Tiziana, Andreani, Marco, Iascone, Maria, Chiriatti, Luigi, Novelli, Antonio, Micalizzi, Alessia, Matraxia, Marta, Menale, Lucia, Faletra, Flavio, Prontera, Paolo, Pilotta, Alba, Bedeschi, Maria Francesca, Capolino, Rossella, Baban, Anwar, Seri, Marco, Mammì, Corrado, Zampino, Giuseppe, Digilio, Maria Cristina, Dallapiccola, Bruno, Priolo, Manuela, Tartaglia, Marco
Publicado 2022

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

por Foroutan, Aidin, Haghshenas, Sadegheh, Bhai, Pratibha, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Niceta, Marcello, Ciolfi, Andrea, Pedace, Lucia, Miele, Evelina, Genevieve, David, Heide, Solveig, Alders, Mariëlle, Zampino, Giuseppe, Merla, Giuseppe, Fradin, Mélanie, Bieth, Eric, Bonneau, Dominique, Dieterich, Klaus, Fergelot, Patricia, Schaefer, Elise, Faivre, Laurence, Vitobello, Antonio, Maitz, Silvia, Fischetto, Rita, Gervasini, Cristina, Piccione, Maria, van de Laar, Ingrid, Tartaglia, Marco, Sadikovic, Bekim, Lebre, Anne-Sophie
Publicado 2022