A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

by Antonino Moschella, Anna Paola Capra, Domenico Corica, Giorgia Pepe, Silvia Di Tommaso, Ester Sallicandro, Malgorzata G. Wasniewska, Silvana Briuglia, Tommaso Aversa
Published 2023-12-01

1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review

by Valentina Lodato, Valeria Orlando, Viola Alesi, Silvia Di Tommaso, Mario Bengala, Giovanni Parlapiano, Elisa Agnolucci, Marianna Cicenia, Federica Calì, Maria Cristina Digilio, Fabrizio Drago, Antonio Novelli, Anwar Baban
Published 2021-11-01

A Complex Genomic Rearrangement Resulting in Loss of Function of <i>SCN1A</i> and <i>SCN2A</i> in a Patient with Severe Developmental and Epileptic Encephalopathy

by Valeria Orlando, Silvia Di Tommaso, Viola Alesi, Sara Loddo, Silvia Genovese, Giorgia Catino, Licia Martucci, Maria Cristina Roberti, Marina Trivisano, Maria Lisa Dentici, Nicola Specchio, Bruno Dallapiccola, Alessandro Ferretti, Antonio Novelli
Published 2022-10-01

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

Deep Intronic LINE-1 Insertions in <i>NF1</i>: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements

by Viola Alesi, Silvia Genovese, Francesca Romana Lepri, Giorgia Catino, Sara Loddo, Valeria Orlando, Silvia Di Tommaso, Alessandra Morgia, Licia Martucci, Maddalena Di Donato, Maria Cristina Digilio, Bruno Dallapiccola, Antonio Novelli, Rossella Capolino
Published 2023-04-01

DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient

by Simona Ruggieri, Luigi Viggiano, Tiziana Annese, Carmela Rubolino, Andrea Gerbino, Roberta De Zio, Patrizia Corsi, Roberto Tamma, Domenico Ribatti, Mariella Errede, Francesca Operto, Lucia Margari, Nicoletta Resta, Silvia Di Tommaso, Jessica Rosati, Maria Trojano, Beatrice Nico
Published 2019-01-01

Hypermethioninemia in Campania: Results from 10 years of newborn screening

by Guglielmo R.D. Villani, Lucia Albano, Marianna Caterino, Daniela Crisci, Silvia Di Tommaso, Simona Fecarotta, Maria Grazia Fisco, Giulia Frisso, Giovanna Gallo, Cristina Mazzaccara, Emanuela Marchese, Antonio Nolano, Giancarlo Parenti, Rita Pecce, Adriana Redi, Francesco Salvatore, Pietro Strisciuglio, Maria Grazia Turturo, Fabiana Vallone, Margherita Ruoppolo
Published 2019-12-01