A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report

por Di Giosaffatte, Niccolò, Valiante, Michele, Tricarico, Stefano, Parise, Giulia, De Negri, Anna Maria, Ricciotti, Guido, Florean, Lara, Paiardini, Alessandro, Bottillo, Irene, Grammatico, Paola
Publicado 2022

Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2?

por Di Giosaffatte, Niccolò, Ferraris, Alessandro, Gaudioso, Federica, Lodato, Valentina, Savino, Emanuele, Celletti, Claudia, Camerota, Filippo, Bargiacchi, Simone, Laino, Luigi, Majore, Silvia, Bottillo, Irene, Grammatico, Paola
Publicado 2022

Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman

por Di Giosaffatte, Niccolò, Bottillo, Irene, Laino, Luigi, Iaquinta, Giovanni, Ferraris, Alessandro, Garzia, Mariagrazia, Bargiacchi, Simone, Mulargia, Claudia, Angelitti, Maria Rosaria, Palumbo, Fabiana, Grammatico, Barbara, Bartolelli, Cinzia, Salerno, Maria Giovanna, Rigacci, Luigi, Grammatico, Paola
Publicado 2022

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

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