Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review

por Rotunno, Roberta, Diociaiuti, Andrea, Dentici, Maria Lisa, Rinelli, Martina, Callea, Michele, Retrosi, Chiara, Zambruno, Giovanna, Bellacchio, Emanuele, El Hachem, May
Publicado 2021

Targeting Epidermal Growth Factor Receptor (EGFR) in Pediatric Colorectal Cancer

por De Pasquale, Maria Debora, Crocoli, Alessandro, Caldaro, Tamara, Rinelli, Martina, Spinelli, Gian Paolo, Francalanci, Paola, Cozza, Raffaele, Inserra, Alessandro, Miele, Evelina
Publicado 2020

Liquid Biopsy with Detection of NRAS(Q61K) Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma

por Mastronuzzi, Angela, Fabozzi, Francesco, Rinelli, Martina, De Vito, Rita, Agolini, Emanuele, Colafati, Giovanna Stefania, Cacchione, Antonella, Carai, Andrea, De Ioris, Maria Antonietta
Publicado 2022

Proliferative vasculopathy and hydranencephaly–hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism

por Radio, Francesca Clementina, Di Meglio, Lavinia, Agolini, Emanuele, Bellacchio, Emanuele, Rinelli, Martina, Toscano, Paolo, Boldrini, Renata, Novelli, Antonio, Di Meglio, Aniello, Dallapiccola, Bruno
Publicado 2018

DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk

por Caroleo, Anna Maria, De Ioris, Maria Antonietta, Boccuto, Luigi, Alessi, Iside, Del Baldo, Giada, Cacchione, Antonella, Agolini, Emanuele, Rinelli, Martina, Serra, Annalisa, Carai, Andrea, Mastronuzzi, Angela
Publicado 2021

Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

por Del Baldo, Giada, Carta, Roberto, Alessi, Iside, Merli, Pietro, Agolini, Emanuele, Rinelli, Martina, Boccuto, Luigi, Milano, Giuseppe Maria, Serra, Annalisa, Carai, Andrea, Locatelli, Franco, Mastronuzzi, Angela
Publicado 2021

Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas

por Ceglie, Giulia, Del Baldo, Giada, Agolini, Emanuele, Rinelli, Martina, Cacchione, Antonella, Del Bufalo, Francesca, Vinci, Maria, Carta, Roberto, Boccuto, Luigi, Miele, Evelina, Mastronuzzi, Angela, Locatelli, Franco, Carai, Andrea
Publicado 2020

Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family

por Concolino, Paola, De Paolis, Elisa, Moffa, Simona, Onori, Maria Elisabetta, Soldovieri, Laura, Ricciardi Tenore, Claudio, De Bonis, Maria, Rabacchi, Claudio, Santonocito, Concetta, Rinelli, Martina, Calandra, Sebastiano, Giaccari, Andrea, Urbani, Andrea, Minucci, Angelo
Publicado 2023

Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era

por Carta, Roberto, Del Baldo, Giada, Miele, Evelina, Po, Agnese, Besharat, Zein Mersini, Nazio, Francesca, Colafati, Giovanna Stefania, Piccirilli, Eleonora, Agolini, Emanuele, Rinelli, Martina, Lodi, Mariachiara, Cacchione, Antonella, Carai, Andrea, Boccuto, Luigi, Ferretti, Elisabetta, Locatelli, Franco, Mastronuzzi, Angela
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

Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review

por Ranalli, Marco, Boni, Alessandra, Caroleo, Anna Maria, Del Baldo, Giada, Rinelli, Martina, Agolini, Emanuele, Rossi, Sabrina, Miele, Evelina, Colafati, Giovanna Stefania, Boccuto, Luigi, Alessi, Iside, De Ioris, Maria Antonietta, Cacchione, Antonella, Capolino, Rossella, Carai, Andrea, Vennarini, Sabina, Mastronuzzi, Angela
Publicado 2021

Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript

por Colletti, Marta, Galardi, Angela, Miele, Evelina, Di Paolo, Virginia, Russo, Ida, De Stefanis, Cristiano, De Vito, Rita, Rinelli, Martina, Ciolfi, Andrea, De Angelis, Biagio, Zin, Angelica, Guffanti, Alessandro, Digilio, Maria Cristina, Novelli, Antonio, Alaggio, Rita, Milano, Giuseppe Maria, Di Giannatale, Angela
Publicado 2021

Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature

por Lodi, Mariachiara, Boccuto, Luigi, Carai, Andrea, Cacchione, Antonella, Miele, Evelina, Colafati, Giovanna Stefania, Diomedi Camassei, Francesca, De Palma, Luca, De Benedictis, Alessandro, Ferretti, Elisabetta, Catanzaro, Giuseppina, Pò, Agnese, De Luca, Alessandro, Rinelli, Martina, Lepri, Francesca Romana, Agolini, Emanuele, Tartaglia, Marco, Locatelli, Franco, Mastronuzzi, Angela
Publicado 2020

Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis

por Boni, Alessandra, Ranalli, Marco, Del Baldo, Giada, Carta, Roberto, Lodi, Mariachiara, Agolini, Emanuele, Rinelli, Martina, Valentini, Diletta, Rossi, Sabrina, Alesi, Viola, Cacchione, Antonella, Miele, Evelina, Alessi, Iside, Caroleo, Anna Maria, Colafati, Giovanna Stefania, De Ioris, Maria Antonietta, Boccuto, Luigi, Balducci, Mario, Carai, Andrea, Mastronuzzi, Angela
Publicado 2021

Targeted therapy for pediatric diffuse intrinsic pontine glioma: a single-center experience

por Del Baldo, Giada, Carai, Andrea, Abbas, Rachid, Cacchione, Antonella, Vinci, Mara, Di Ruscio, Valentina, Colafati, Giovanna Stefania, Rossi, Sabrina, Diomedi Camassei, Francesca, Maestro, Nicola, Temelso, Sara, Pericoli, Giulia, De Billy, Emmanuel, Giovannoni, Isabella, Carboni, Alessia, Rinelli, Martina, Agolini, Emanuele, Mackay, Alan, Jones, Chris, Chiesa, Silvia, Balducci, Mario, Locatelli, Franco, Mastronuzzi, Angela
Publicado 2022

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

por Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S., Scherer, Stephen W., Iascone, Maria, Weis, Denisa, Fagerberg, Christina R., Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B., Pavlidou, Despoina C., Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R., Hsieh, Tzung-Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M., Lemke, Johannes R., Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad
Publicado 2023