RAI1 gene mutations: mechanisms of Smith–Magenis syndrome

por Falco, Mariateresa, Amabile, Sonia, Acquaviva, Fabio
Publicado 2017

Glucose Derangements in Very Young Children With Cystic Fibrosis and Pancreatic Insufficiency

por Mozzillo, Enza, Raia, Valeria, Fattorusso, Valentina, Falco, Mariateresa, Sepe, Angela, De Gregorio, Fabiola, Nugnes, Rosa, Valerio, Giuliana, Franzese, Adriana
Publicado 2012

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

por Genesio, Rita, Fontana, Paolo, Mormile, Angela, Casertano, Alberto, Falco, Mariateresa, Conti, Anna, Franzese, Adriana, Mozzillo, Enza, Nitsch, Lucio, Melis, Daniela
Publicado 2015

Celiac disease in type 1 diabetes mellitus

por Camarca, Maria Erminia, Mozzillo, Enza, Nugnes, Rosa, Zito, Eugenio, Falco, Mariateresa, Fattorusso, Valentina, Mobilia, Sara, Buono, Pietro, Valerio, Giuliana, Troncone, Riccardo, Franzese, Adriana
Publicado 2012

Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity

por Ferrara, Ursula Pia, Tortora, Cristina, Rosano, Carmen, Assunto, Antonia, Rossi, Alessandro, Pagano, Stefano, Falco, Mariateresa, Simeoli, Chiara, Ferrigno, Rosario, D’Amico, Alessandra, Di Salvio, Dario, Cangemi, Giuliana, Pivonello, Rosario, Strisciuglio, Pietro, Melis, Daniela
Publicado 2022

M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINAR...

por Barone, Annarita, Iasevoli, Felice, Matrone, Marta, Filomena Buonaguro, Elisabetta, Falco, Mariateresa, Genesio, Rita, Pignataro, Piero, Capasso, Mario, Gambale, Antonella, Avagliano, Camilla, Razzino, Eugenio, Notar Francesco, Danilo, Ciccarelli, Mariateresa, Vitiello, Giuseppina, Andolfo, Immacolata, Nitsch, Lucio, Iolascon, Achille, de Bartolomeis, Andrea
Publicado 2020

RASopathies and hemostatic abnormalities: key role of platelet dysfunction

por Di Candia, Francesca, Marchetti, Valeria, Cirillo, Ferdinando, Di Minno, Alessandro, Rosano, Carmen, Pagano, Stefano, Siano, Maria Anna, Falco, Mariateresa, Assunto, Antonia, Boccia, Giovanni, Magliacane, Gerardo, Pinna, Valentina, De Luca, Alessandro, Tartaglia, Marco, Di Minno, Giovanni, Strisciuglio, Pietro, Melis, Daniela
Publicado 2021

Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review

por Romano, Ferruccio, Falco, Mariateresa, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Lonardo, Fortunato, Torella, Annalaura, Digilio, Maria Cristina, Dentici, Maria Lisa, Alfieri, Paolo, Agolini, Emanuele, Novelli, Antonio, Garavelli, Livia, Accogli, Andrea, Striano, Pasquale, Scarano, Gioacchino, Nigro, Vincenzo, Scala, Marcello, Capra, Valeria
Publicado 2022

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

por Di Candia, Francesca, Fontana, Paolo, Paglia, Pamela, Falco, Mariateresa, Rosano, Carmen, Piscopo, Carmelo, Cappuccio, Gerarda, Siano, Maria Anna, De Brasi, Daniele, Mandato, Claudia, De Maggio, Ilaria, Squeo, Gabriella Maria, Monica, Matteo Della, Scarano, Gioacchino, Lonardo, Fortunato, Strisciuglio, Pietro, Merla, Giuseppe, Melis, Daniela
Publicado 2021

Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques

por Carli, Diana, Operti, Matteo, Russo, Silvia, Cocchi, Guido, Milani, Donatella, Leoni, Chiara, Prada, Elisabetta, Melis, Daniela, Falco, Mariateresa, Spina, Jennifer, Uliana, Vera, Sara, Osimani, Sirchia, Fabio, Tarani, Luigi, Macchiaiolo, Marina, Cerrato, Flavia, Sparago, Angela, Pignata, Laura, Tannorella, Pierpaola, Cardaropoli, Simona, Bartuli, Andrea, Riccio, Andrea, Ferrero, Giovanni Battista, Mussa, Alessandro
Publicado 2022