MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

by Tucci, Arianna, Ciaccio, Claudia, Scuvera, Giulietta, Esposito, Susanna, Milani, Donatella
Published 2016

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

by Milani, Donatella, Bonarrigo, Francesca, Avignone, Sabrina, Triulzi, Fabio, Esposito, Susanna
Published 2015

Beckwith–Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene

by Milani, Donatella, Pezzani, Lidia, Tabano, Silvia, Miozzo, Monica
Published 2014

HOXA genes cluster: clinical implications of the smallest deletion

by Pezzani, Lidia, Milani, Donatella, Manzoni, Francesca, Baccarin, Marco, Silipigni, Rosamaria, Guerneri, Silvana, Esposito, Susanna
Published 2015

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome

by Tucci, Arianna, Ronzoni, Luisa, Arduino, Carlo, Salmin, Paola, Esposito, Susanna, Milani, Donatella
Published 2016

Syndromic obesity: clinical implications of a correct diagnosis

by Milani, Donatella, Cerutti, Marta, Pezzani, Lidia, Maffei, Pietro, Milan, Gabriella, Esposito, Susanna
Published 2014

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

by Milani, Donatella, Manzoni, Francesca Maria Paola, Pezzani, Lidia, Ajmone, Paola, Gervasini, Cristina, Menni, Francesca, Esposito, Susanna
Published 2015

Ehlers-Danlos syndrome versus cleidocranial dysplasia

by Bedeschi, Maria Francesca, Bonarrigo, Francesca, Manzoni, Francesca, Milani, Donatella, Piemontese, Maria Rosaria, Guez, Sophie, Esposito, Susanna
Published 2014

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

by Bentivegna, Angela, Milani, Donatella, Gervasini, Cristina, Castronovo, Paola, Mottadelli, Federica, Manzini, Stefano, Colapietro, Patrizia, Giordano, Lucio, Atzeri, Francesca, Divizia, Maria T, Uzielli, Maria L Giovannucci, Neri, Giovanni, Bedeschi, Maria F, Faravelli, Francesca, Selicorni, Angelo, Larizza, Lidia
Published 2006

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes

by Castronovo, Chiara, Valtorta, Emanuele, Crippa, Milena, Tedoldi, Sara, Romitti, Lorenza, Amione, Maria Cristina, Guerneri, Silvana, Rusconi, Daniela, Ballarati, Lucia, Milani, Donatella, Grosso, Enrico, Cavalli, Pietro, Giardino, Daniela, Bonati, Maria Teresa, Larizza, Lidia, Finelli, Palma
Published 2013