Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families

por Tabolacci, Elisabetta, Pietrobono, Roberta, Maneri, Giulia, Remondini, Laura, Nobile, Veronica, Della Monica, Matteo, Pomponi, Maria Grazia, Genuardi, Maurizio, Neri, Giovanni, Chiurazzi, Pietro
Publicado 2020

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use

por D’ippolito, Silvia, Di Simone, Nicoletta, Orteschi, Daniela, Pomponi, Maria Grazia, Genuardi, Maurizio, Sisti, Leuconoe Grazia, Castellani, Roberta, Rossi, Esther Diana, Scambia, Giovanni, Zollino, Marcella
Publicado 2017

Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience

por Riso, Vittorio, Rossi, Salvatore, Nicoletti, Tommaso F., Tessa, Alessandra, Travaglini, Lorena, Zanni, Ginevra, Aiello, Chiara, Perna, Alessia, Barghigiani, Melissa, Pomponi, Maria Grazia, Santorelli, Filippo M., Silvestri, Gabriella
Publicado 2021

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

por Tabolacci, Elisabetta, Pomponi, Maria Grazia, Remondini, Laura, Pietrobono, Roberta, Orteschi, Daniela, Nobile, Veronica, Pucci, Cecilia, Musto, Elisa, Pane, Marika, Mercuri, Eugenio M., Neri, Giovanni, Genuardi, Maurizio, Chiurazzi, Pietro, Zollino, Marcella
Publicado 2021

Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype

por Lo Vecchio, Filomena, Tabolacci, Elisabetta, Nobile, Veronica, Pomponi, Maria Grazia, Pietrobono, Roberta, Neri, Giovanni, Amenta, Simona, Candida, Ettore, Grippaudo, Cristina, Lo Cascio, Ettore, Vita, Alessia, Tiberio, Federica, Arcovito, Alessandro, Lattanzi, Wanda, Genuardi, Maurizio, Chiurazzi, Pietro
Publicado 2022