Defining language disorders in children and adolescents with Noonan Syndrome

by Giulia Lazzaro, Cristina Caciolo, Deny Menghini, Francesca Cumbo, Maria C. Digilio, Rossella Capolino, Giuseppe Zampino, Marco Tartaglia, Stefano Vicari, Paolo Alfieri
Published 2020-04-01

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

by Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani, Antonio Novelli
Published 2019-06-01

Homozygous <i>HESX1</i> and <i>COL1A1</i> Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis

by Viola Alesi, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso, Giorgia Catino, Chiara Calacci, Giusy Calvieri, Daniele Pompili, Graziamaria Ubertini, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli
Published 2021-01-01

Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome

by Paolo Alfieri, Francesca Cumbo, Giulia Serra, Monia Trasolini, Camilla Frattini, Francesco Scibelli, Serena Licchelli, Flavia Cirillo, Cristina Caciolo, Maria Pia Casini, Adele D’amico, Marco Tartaglia, Maria Cristina Digilio, Rossella Capolino, Stefano Vicari
Published 2021-02-01

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling

by Maria Lisa Dentici, Paola Bergonzini, Francesco Scibelli, Cristina Caciolo, Paola De Rose, Francesca Cumbo, Viola Alesi, Rossella Capolino, Ginevra Zanni, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Maria Cristina Digilio, Bruno Dallapiccola, Stefano Vicari, Paolo Alfieri
Published 2020-11-01

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

by Marco Ranalli, Alessandra Boni, Anna Maria Caroleo, Giada Del Baldo, Martina Rinelli, Emanuele Agolini, Sabrina Rossi, Evelina Miele, Giovanna Stefania Colafati, Luigi Boccuto, Iside Alessi, Maria Antonietta De Ioris, Antonella Cacchione, Rossella Capolino, Andrea Carai, Sabina Vennarini, Angela Mastronuzzi
Published 2021-04-01

Prevalence, Type, and Molecular Spectrum of <i>NF1</i> Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

by Valentina Pinna, Paola Daniele, Giulio Calcagni, Lucio Mariniello, Roberta Criscione, Chiara Giardina, Francesca Romana Lepri, Hossein Hozhabri, Angela Alberico, Stefania Cavone, Annunziata Tina Morella, Roberta Mandile, Francesca Annunziata, Niccolò Di Giosaffatte, Maria Cecilia D’Asdia, Paolo Versacci, Rossella Capolino, Pietro Strisciuglio, Sandra Giustini, Daniela Melis, Maria Cristina Digilio, Marco Tartaglia, Bruno Marino, Alessandro De Luca
Published 2019-09-01