Angioimmunoblastic T-Cell Lymphoma with Exuberant CD30-Positive Follicular Dendritic Cell Proliferation in a SARS-CoV-2 Patient: The Role of Mutational Analysis to Exclude an Assoc...

por Rogges, Evelina, Pelliccia, Sabrina, Lopez, Gianluca, Barresi, Sabina, Tafuri, Agostino, Alaggio, Rita, Di Napoli, Arianna
Publicado 2022

Oligophrenin-1 (OPHN1), a Gene Involved in X-Linked Intellectual Disability, Undergoes RNA Editing and Alternative Splicing during Human Brain Development

por Barresi, Sabina, Tomaselli, Sara, Athanasiadis, Alekos, Galeano, Federica, Locatelli, Franco, Bertini, Enrico, Zanni, Ginevra, Gallo, Angela
Publicado 2014

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly

por Salzano, Emanuela, Niceta, Marcello, Pizzi, Simone, Radio, Francesca Clementina, Busè, Martina, Mercadante, Francesca, Barresi, Sabina, Ferrara, Arturo, Mancini, Cecilia, Tartaglia, Marco, Piccione, Maria
Publicado 2023

Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiolog...

por Costanzo, Floriana, Zanni, Ginevra, Fucà, Elisa, Di Paola, Margherita, Barresi, Sabina, Travaglini, Lorena, Colafati, Giovanna Stefania, Gambardella, Antonio, Bellacchio, Emanuele, Bertini, Enrico, Menghini, Deny, Vicari, Stefano
Publicado 2022

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

por Dentici, Maria Lisa, Barresi, Sabina, Nardella, Marta, Bellacchio, Emanuele, Alfieri, Paolo, Bruselles, Alessandro, Pantaleoni, Francesca, Danieli, Alberto, Iarossi, Giancarlo, Cappa, Marco, Bertini, Enrico, Tartaglia, Marco, Zanni, Ginevra
Publicado 2017

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

por Niceta, Marcello, Dentici, Maria Lisa, Ciolfi, Andrea, Marini, Romana, Barresi, Sabina, Lepri, Francesca Romana, Novelli, Antonio, Bertini, Enrico, Cappa, Marco, Digilio, Maria Cristina, Dallapiccola, Bruno, Tartaglia, Marco
Publicado 2020

Molecular Landscape in Infant High-Grade Gliomas: A Single Center Experience

por Di Ruscio, Valentina, Carai, Andrea, Del Baldo, Giada, Vinci, Maria, Cacchione, Antonella, Miele, Evelina, Rossi, Sabrina, Antonelli, Manila, Barresi, Sabina, Caulo, Massimo, Colafati, Giovanna Stefania, Mastronuzzi, Angela
Publicado 2022

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

por Macchiaiolo, Marina, Barresi, Sabina, Cecconi, Francesco, Zanni, Ginevra, Niceta, Marcello, Bellacchio, Emanuele, Lazzarino, Giacomo, Amorini, Angela Maria, Bertini, Enrico Silvio, Rizza, Salvatore, Contardi, Benedetta, Tartaglia, Marco, Bartuli, Andrea
Publicado 2017

A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops

por Castiglia, Daniele, Fortugno, Paola, Condorelli, Angelo Giuseppe, Barresi, Sabina, De Luca, Naomi, Pizzi, Simone, Neri, Iria, Graziano, Claudio, Trojan, Diletta, Ponzin, Diego, Rossi, Sabrina, Zambruno, Giovanna, Tartaglia, Marco
Publicado 2021

Intrathoracic synovial sarcoma with BRAF V600E mutation

por Russo, Ida, Barresi, Sabina, Di Paolo, Pier Luigi, Di Ruscio, Valentina, Del Baldo, Giada, Serra, Annalisa, Vallese, Silvia, Miele, Evelina, Mastronuzzi, Angela, Alaggio, Rita, Ferrari, Andrea, Milano, Giuseppe Maria
Publicado 2023

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in So...

por D’Amico, Adele, Fattori, Fabiana, Nicita, Francesco, Barresi, Sabina, Tasca, Giorgio, Verardo, Margherita, Pizzi, Simone, Moroni, Isabella, De Mitri, Francesca, Frongia, Annalia, Pane, Marika, Mercuri, Eugenio, Tartaglia, Marco, Bertini, Enrico
Publicado 2020

Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement

por d’Amati, Antonio, Gianno, Francesca, Scuccimarri, Luciana, Lastilla, Michele, Messina, Raffaella, Signorelli, Francesco, Zimatore, Domenico Sergio, Barresi, Sabina, Miele, Evelina, Alaggio, Rita, Rossi, Sabrina, Maiorano, Eugenio, Ingravallo, Giuseppe, Giangaspero, Felice, Antonelli, Manila
Publicado 2023

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children

por Terracciano, Alessandra, Renaldo, Florence, Zanni, Ginevra, D’Amico, Adele, Pastore, Anna, Barresi, Sabina, Valente, Enza Maria, Piemonte, Fiorella, Tozzi, Giulia, Carrozzo, Rosalba, Valeriani, Massimiliano, Boldrini, Renata, Mercuri, Eugenio, Santorelli, Filippo Maria, Bertini, Enrico
Publicado 2012

Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination

por Rossi, Sabrina, Barresi, Sabina, Giovannoni, Isabella, Alesi, Viola, Ciolfi, Andrea, Colafati, Giovanna Stefania, Diomedi‐Camassei, Francesca, Miele, Evelina, Cacchione, Antonella, Quacquarini, Denise, Carai, Andrea, Tartaglia, Marco, Giannini, Caterina, Giangaspero, Felice, Mastronuzzi, Angela, Alaggio, Rita
Publicado 2021

Rethinking the Management of Optic Pathway Gliomas: A Single Center Experience

por Del Baldo, Giada, Cacchione, Antonella, Dell’Anna, Vito Andrea, Merli, Pietro, Colafati, Giovanna Stefania, Marrazzo, Antonio, Rossi, Sabrina, Giovannoni, Isabella, Barresi, Sabina, Deodati, Annalisa, Valente, Paola, Ferretti, Elisabetta, Capece, Mara, Mastronuzzi, Angela, Carai, Andrea
Publicado 2022

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature

por Trimarchi, Gabriele, Caraffi, Stefano Giuseppe, Radio, Francesca Clementina, Barresi, Sabina, Contrò, Gianluca, Pizzi, Simone, Maini, Ilenia, Pollazzon, Marzia, Fusco, Carlo, Sassi, Silvia, Nicoli, Davide, Napoli, Manuela, Pascarella, Rosario, Gargano, Giancarlo, Zuffardi, Orsetta, Tartaglia, Marco, Garavelli, Livia
Publicado 2021

CAPRIN1(P512L) causes aberrant protein aggregation and associates with early-onset ataxia

por Delle Vedove, Andrea, Natarajan, Janani, Zanni, Ginevra, Eckenweiler, Matthias, Muiños-Bühl, Anixa, Storbeck, Markus, Guillén Boixet, Jordina, Barresi, Sabina, Pizzi, Simone, Hölker, Irmgard, Körber, Friederike, Franzmann, Titus M., Bertini, Enrico S., Kirschner, Janbernd, Alberti, Simon, Tartaglia, Marco, Wirth, Brunhilde
Publicado 2022

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

por Ferraris, Alessandro, Bernardini, Laura, Sabolic Avramovska, Vesna, Zanni, Ginevra, Loddo, Sara, Sukarova-Angelovska, Elena, Parisi, Valentina, Capalbo, Anna, Tumini, Stefano, Travaglini, Lorena, Mancini, Francesca, Duma, Filip, Barresi, Sabina, Novelli, Antonio, Mercuri, Eugenio, Tarani, Luigi, Bertini, Enrico, Dallapiccola, Bruno, Valente, Enza Maria
Publicado 2013

Paediatric-type diffuse high-grade gliomas in the 5th CNS WHO Classification

por Gianno, Francesca, Giovannoni, Isabella, Cafferata, Barbara, Diomedi-Camassei, Francesca, Minasi, Simone, Barresi, Sabina, Buttarelli, Francesca Romana, Alesi, Viola, Cardoni, Antonello, Antonelli, Manila, Puggioni, Chiara, Colafati, Giovanna Stefania, Carai, Andrea, Vinci, Maria, Mastronuzzi, Angela, Miele, Evelina, Alaggio, Rita, Giangaspero, Felice, Rossi, Sabrina
Publicado 2022

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

por Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, Billette de Villemeur, Thierry, Rodriguez, Diana
Publicado 2012