<i>APC</i>-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature

by Flavia Privitera, Flavia Piccini, Maria Paola Recalcati, Silvia Presi, Silvia Mazzola, Paola Carrera
Published 2023-07-01

Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene

by Matteo Baggiani, Filippo Maria Santorelli, Serena Mero, Flavia Privitera, Devid Damiani, Alessandra Tessa
Published 2024-09-01

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in <i>SATB1</i>: A New Case Report and Review of the Literature

by Flavia Privitera, Stefano Pagano, Camilla Meossi, Roberta Battini, Emanuele Bartolini, Domenico Montanaro, Filippo Maria Santorelli
Published 2024-04-01

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder

by Flavia Privitera, Maria A. Trusso, Floriana Valentino, Gabriella Doddato, Chiara Fallerini, Giulia Brunelli, Romina D’Aurizio, Simone Furini, Arianna Goracci, Andrea Fagiolini, Francesca Mari, Alessandra Renieri, Francesca Ariani
Published 2023-03-01

13q Deletion Syndrome Involving <i>RB1</i>: Characterization of a New Minimal Critical Region for Psychomotor Delay

by Flavia Privitera, Arianna Calonaci, Gabriella Doddato, Filomena Tiziana Papa, Margherita Baldassarri, Anna Maria Pinto, Francesca Mari, Ilaria Longo, Mauro Caini, Daniela Galimberti, Theodora Hadjistilianou, Sonia De Francesco, Alessandra Renieri, Francesca Ariani
Published 2021-08-01