48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome

por Milani, Donatella, Bonarrigo, Francesca, Avignone, Sabrina, Triulzi, Fabio, Esposito, Susanna
Publicado 2015

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

por Galazzi, Elena, Duminuco, Paolo, Moro, Mirella, Guizzardi, Fabiana, Marazzi, Nicoletta, Sartorio, Alessandro, Avignone, Sabrina, Bonomi, Marco, Persani, Luca, Bonati, Maria Teresa
Publicado 2018

Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery

por Aleo, Sebastiano, Cinnante, Claudia, Avignone, Sabrina, Prada, Elisabetta, Scuvera, Giulietta, Ajmone, Paola Francesca, Selicorni, Angelo, Costantino, Maria Antonella, Triulzi, Fabio, Marchisio, Paola, Gervasini, Cristina, Milani, Donatella
Publicado 2020

Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients

por Alari, Valentina, Scalmani, Paolo, Ajmone, Paola Francesca, Perego, Sara, Avignone, Sabrina, Catusi, Ilaria, Lonati, Paola Adele, Borghi, Maria Orietta, Finelli, Palma, Terragni, Benedetta, Mantegazza, Massimo, Russo, Silvia, Larizza, Lidia
Publicado 2021

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype–Phenotype Correlations in a Large Independent Cohort

por Melloni, Giulia, Eoli, Marica, Cesaretti, Claudia, Bianchessi, Donatella, Ibba, Maria Cristina, Esposito, Silvia, Scuvera, Giulietta, Morcaldi, Guido, Micheli, Roberto, Piozzi, Elena, Avignone, Sabrina, Chiapparini, Luisa, Pantaleoni, Chiara, Natacci, Federica, Finocchiaro, Gaetano, Saletti, Veronica
Publicado 2019

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort

por Paterra, Rosina, Bettinaglio, Paola, Borghi, Arianna, Mangano, Eleonora, Tritto, Viviana, Cesaretti, Claudia, Schettino, Carla, Bordoni, Roberta, Santoro, Claudia, Avignone, Sabrina, Moscatelli, Marco, Melone, Mariarosa Anna Beatrice, Saletti, Veronica, Piluso, Giulio, Natacci, Federica, Riva, Paola, Eoli, Marica
Publicado 2022