Preferential expression of mutant <it>ABCD1 </it>allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

by Salsano Ettore, Tabano Silvia, Sirchia Silvia M, Colapietro Patrizia, Castellotti Barbara, Gellera Cinzia, Rimoldi Marco, Pensato Viviana, Mariotti Caterina, Pareyson Davide, Miozzo Monica, Uziel Graziella
Published 2012-01-01

Rubinstein-Taybi Syndrome: spectrum of <it>CREBBP </it>mutations in Italian patients

by Uzielli Maria, Divizia Maria T, Atzeri Francesca, Giordano Lucio, Colapietro Patrizia, Manzini Stefano, Mottadelli Federica, Castronovo Paola, Gervasini Cristina, Milani Donatella, Bentivegna Angela, Neri Giovanni, Bedeschi Maria F, Faravelli Francesca, Selicorni Angelo, Larizza Lidia
Published 2006-10-01