Epilepsy phenotype in patients with Xp22.31 microduplication

by Mario Brinciotti, Francesca Fioriello, Antonio Mittica, Laura Bernardini, Marina Goldoni, Maria Matricardi
Published 2019-01-01

Identification of a De Novo Xq26.2 Microduplication Encompassing <i>FIRRE</i> Gene in a Child with Intellectual Disability

by Gianmaria Miolo, Laura Bernardini, Anna Capalbo, Anna Favia, Marina Goldoni, Barbara Pivetta, Giovanni Tessitori, Giuseppe Corona
Published 2020-11-01

Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)

by Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi
Published 2018-03-01

Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review

by Aurora Arghir, Sorina Mihaela Papuc, Andreea‐Cristina Tutulan‐Cunita, Alina Erbescu, Sara Loddo, Silvia Genovese, Laura Ciocca, Marina Goldoni, Carmelo Piscopo, Laura Bernardini, Antonio Novelli, Magdalena Budisteanu
Published 2021-01-01

Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene

by Angela D'Anzi, Filomena Altieri, Elisa Perciballi, Daniela Ferrari, Laura Bernardini, Marina Goldoni, Letizia Mazzini, Fabiola De Marchi, Alice Di Pierro, Sandra D'Alfonso, Maurizio Gelati, Angelo Luigi Vescovi, Jessica Rosati
Published 2020-08-01

Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7

by Elisa Maria Turco, Ersilia Vinci, Filomena Altieri, Daniela Ferrari, Barbara Torres, Marina Goldoni, Giuseppe Lamorte, Ada Maria Tata, Gianluigi Mazzoccoli, Diana Postorivo, Matteo Della Monica, Laura Bernardini, Angelo Luigi Vescovi, Jessica Rosati
Published 2018-10-01

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

by Eris Bidollari, Giovannina Rotundo, Filomena Altieri, Mariangela Amicucci, Daniele Wiquel, Daniela Ferrari, Marina Goldoni, Laura Bernardini, Federica Consoli, Alessandro De Luca, Sergio Fanelli, Giuseppe Lamorte, Leonardo D'Agruma, Angelo Luigi Vescovi, Ferdinando Squitieri, Jessica Rosati
Published 2019-10-01