Neonatal Diabetes Caused by Pancreatic Agenesia: Which other genes should be used for diagnosis?

por Salina, Alessandro, Pasquali, Lorenzo, Aloi, Concetta, Lugani, Francesca, d'Annunzio, Giuseppe, Lorini, Renata
Publicado 2010

“Pesto” Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients

por Salina, Alessandro, Bassi, Marta, Aloi, Concetta, Strati, Marina Francesca, Bocciardi, Renata, d’Annunzio, Giuseppe, Maghnie, Mohamad, Minuto, Nicola
Publicado 2023

Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia

por Aloi, Concetta, Salina, Alessandro, Caroli, Francesco, Bocciardi, Renata, Tappino, Barbara, Bassi, Marta, Minuto, Nicola, d’Annunzio, Giuseppe, Maghnie, Mohamad
Publicado 2023

Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic Investigation

por Lezzi, Marilea, Aloi, Concetta, Salina, Alessandro, Fragola, Martina, Bassi, Marta, Strati, Marina Francesca, d’Annunzio, Giuseppe, Minuto, Nicola, Maghnie, Mohamad
Publicado 2022

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4

por Delvecchio, Maurizio, Ortolani, Federica, Palumbo, Orazio, Aloi, Concetta, Salina, Alessandro, Susca, Francesco Claudio, Palumbo, Pietro, Carella, Massimo, Resta, Nicoletta, Piccinno, Elvira
Publicado 2021

An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus

por Rigoli, Luciana, Caruso, Valerio, Aloi, Concetta, Salina, Alessandro, Maghnie, Mohamad, d’Annunzio, Giuseppe, Lamacchia, Olga, Salzano, Giuseppina, Lombardo, Fortunato, Picca, Giuseppe
Publicado 2022

Wolfram Syndrome: New Mutations, Different Phenotype

por Aloi, Concetta, Salina, Alessandro, Pasquali, Lorenzo, Lugani, Francesca, Perri, Katia, Russo, Chiara, Tallone, Ramona, Ghiggeri, Gian Marco, Lorini, Renata, d'Annunzio, Giuseppe
Publicado 2012

Automated Insulin Delivery (AID) Systems: Use and Efficacy in Children and Adults with Type 1 Diabetes and Other Forms of Diabetes in Europe in Early 2023

por Bassi, Marta, Franzone, Daniele, Dufour, Francesca, Strati, Marina Francesca, Scalas, Marta, Tantari, Giacomo, Aloi, Concetta, Salina, Alessandro, d’Annunzio, Giuseppe, Maghnie, Mohamad, Minuto, Nicola
Publicado 2023

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

por Mozzillo, Enza, Delvecchio, Maurizio, Carella, Massimo, Grandone, Elvira, Palumbo, Pietro, Salina, Alessandro, Aloi, Concetta, Buono, Pietro, Izzo, Antonella, D’Annunzio, Giuseppe, Vecchione, Gennaro, Orrico, Ada, Genesio, Rita, Simonelli, Francesca, Franzese, Adriana
Publicado 2014

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

por Ruoppolo, Margherita, Malvagia, Sabrina, Boenzi, Sara, Carducci, Carla, Dionisi-Vici, Carlo, Teofoli, Francesca, Burlina, Alberto, Angeloni, Antonio, Aronica, Tommaso, Bordugo, Andrea, Bucci, Ines, Camilot, Marta, Carbone, Maria Teresa, Cardinali, Roberta, Carducci, Claudia, Cassanello, Michela, Castana, Cinzia, Cazzorla, Chiara, Ciatti, Renzo, Ferrari, Simona, Frisso, Giulia, Funghini, Silvia, Furlan, Francesca, Gasperini, Serena, Gragnaniello, Vincenza, Guzzetti, Chiara, La Marca, Giancarlo, La Spina, Luisa, Lorè, Tania, Meli, Concetta, Messina, MariaAnna, Morrone, Amelia, Nardecchia, Francesca, Ortolano, Rita, Parenti, Giancarlo, Pavanello, Enza, Pieragostino, Damiana, Pillai, Sara, Porta, Francesco, Righetti, Francesca, Rossi, Claudia, Rovelli, Valentina, Salina, Alessandro, Santoro, Laura, Sauro, Pina, Schiaffino, Maria Cristina, Simonetti, Simonetta, Vincenzi, Monica, Tarsi, Elisabetta, Uccheddu, Anna Paola
Publicado 2022