Cutaneous Findings in Neurofibromatosis Type 1

por Ozarslan, Bengisu, Russo, Teresa, Argenziano, Giuseppe, Santoro, Claudia, Piccolo, Vincenzo
Publicado 2021

Polysomnographic study in pediatric neurofibromatosis type 1

por Carotenuto, Marco, Messina, Giovanni, Esposito, Maria, Santoro, Claudia, Iacono, Diego, Spruyt, Karen
Publicado 2023

Aripiprazole-Induced Oculogyric Crisis: A Pediatric Case Series and A Brief Narrative Review

por Bernardo, Pia, Rubino, Alfonso, Santoro, Claudia, Bravaccio, Carmela, Pozzi, Marco, Pisano, Simone
Publicado 2021

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

por Peduto, Cristina, Zanobio, Mariateresa, Nigro, Vincenzo, Perrotta, Silverio, Piluso, Giulio, Santoro, Claudia
Publicado 2023

From Gardner fibroma diagnosis to constitutional APC mutation detection: a one‐way street

por Santoro, Claudia, Giugliano, Teresa, Bifano, Delfina, D'Anna, Carolina, D'Onofrio, Vittoria, Perrotta, Silverio
Publicado 2017

Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications

por Russo, Camilla, Russo, Carmela, Cascone, Daniele, Mazio, Federica, Santoro, Claudia, Covelli, Eugenio Maria, Cinalli, Giuseppe
Publicado 2021

Neuropsychiatric Manifestations, Reduced Self-Esteem and Poor Quality of Life in Children and Adolescents with Neurofibromatosis Type 1 (NF1): The Impact of Symptom Visibility and...

por Cavallo, Nicola Davide, Maggi, Gianpaolo, Ferraiuolo, Francesco, Sorrentino, Anna, Perrotta, Silverio, Carotenuto, Marco, Santangelo, Gabriella, Santoro, Claudia
Publicado 2023

Finding New Genes for Non-Syndromic Hearing Loss through an In Silico Prioritization Study

por Accetturo, Matteo, Creanza, Teresa M., Santoro, Claudia, Tria, Giancarlo, Giordano, Antonio, Battagliero, Simone, Vaccina, Antonella, Scioscia, Gaetano, Leo, Pietro
Publicado 2010

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report

por Santoro, Claudia, Apicella, Andrea, Casale, Fiorina, La Manna, Angela, Di Martino, Martina, Di Pinto, Daniela, Indolfi, Cristiana, Perrotta, Silverio
Publicado 2016

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series

por D’Amico, Alessandra, Mazio, Federica, Ugga, Lorenzo, Cuocolo, Renato, Cirillo, Mario, Santoro, Claudia, Perrotta, Silverio, Melis, Daniela, Brunetti, Arturo
Publicado 2018

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

por Santoro, Claudia, Pacileo, Giuseppe, Limongelli, Giuseppe, Scianguetta, Saverio, Giugliano, Teresa, Piluso, Giulio, Ragione, Fulvio Della, Cirillo, Mario, Mirone, Giuseppe, Perrotta, Silverio
Publicado 2014

Effects of Eltrombopag on In Vitro Macrophage Polarization in Pediatric Immune Thrombocytopenia

por Di Paola, Alessandra, Palumbo, Giuseppe, Merli, Pietro, Argenziano, Maura, Tortora, Chiara, Strocchio, Luisa, Roberti, Domenico, Santoro, Claudia, Perrotta, Silverio, Rossi, Francesca
Publicado 2020

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

por Santoro, Claudia, Bernardo, Pia, Coppola, Antonietta, Pugliese, Umberto, Cirillo, Mario, Giugliano, Teresa, Piluso, Giulio, Cinalli, Giuseppe, Striano, Salvatore, Bravaccio, Carmela, Perrotta, Silverio
Publicado 2018

Removal of Koos IV acoustic neuroma and auditory brainstem implant in NF2 patient

por Scala, Maria Rosaria, Spennato, Pietro, Volpe, Antonio Della, Santoro, Claudia, Picariello, Stefania, Varricchio, Alfonso Maria, Ruggiero, Claudio, dé Santi, Serena, Cinalli, Giuseppe
Publicado 2021

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1

por Santoro, Claudia, Giugliano, Teresa, Kraemer, Markus, Torella, Annalaura, Schwitalla, Jan Claudius, Cirillo, Mario, Melis, Daniela, Berlit, Peter, Nigro, Vincenzo, Perrotta, Silverio, Piluso, Giulio
Publicado 2018

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

por Santoro, Claudia, Giugliano, Teresa, Bernardo, Pia, Palladino, Federica, Torella, Annalaura, del Vecchio Blanco, Francesca, Onore, Maria Elena, Carotenuto, Marco, Nigro, Vincenzo, Piluso, Giulio
Publicado 2020

Natural History of Scoliosis in Children with NF1: An Observation Study

por Toro, Giuseppe, Santoro, Claudia, Ambrosio, Daniele, Landi, Giovanni, Scilipoti, Martina, Moretti, Antimo, Paoletta, Marco, Liguori, Sara, Schiavone Panni, Alfredo, Picariello, Stefania, Iolascon, Giovanni
Publicado 2021

Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome

por D’Amico, Alessandra, Ugga, Lorenzo, Cocozza, Sirio, Giorgio, Sara Maria delle Acque, Cicala, Domenico, Santoro, Claudia, Melis, Daniela, Cinalli, Giuseppe, Brunetti, Arturo, Pappatà, Sabina
Publicado 2020

Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs

por Piccolo, Vincenzo, Russo, Teresa, Di Pinto, Daniela, Pota, Elvira, Di Martino, Martina, Piluso, Giulio, Ronchi, Andrea, Argenziano, Giuseppe, Di Brizzi, Eugenia Veronica, Santoro, Claudia
Publicado 2021

Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications

por Precenzano, Francesco, Parisi, Lucia, Lanzara, Valentina, Vetri, Luigi, Operto, Francesca Felicia, Pastorino, Grazia Maria Giovanna, Ruberto, Maria, Messina, Giovanni, Risoleo, Maria Cristina, Santoro, Claudia, Bitetti, Ilaria, Marotta, Rosa
Publicado 2020