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

Role of polymorphisms of toll-like receptor (TLR) 4, TLR9, toll-interleukin 1 receptor domain containing adaptor protein (TIRAP) and FCGR2A genes in malaria susceptibility and seve...

by Esposito Susanna, Molteni Claudio, Zampiero Alberto, Baggi Elena, Lavizzari Anna, Semino Margherita, Daleno Cristina, Groppo Michela, Scala Alessia, Terranova Leonardo, Miozzo Monica, Pelucchi Claudio, Principi Nicola
Published 2012-06-01

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

by Novelli Antonio, Fedele Luigi, Divizia Maria, Barbano Giancarlo, Frontino Giada, Baban Anwar, Carella Massimo, Gervasini Cristina, Gimelli Stefania, Bernardini Laura, Béna Frédérique, Lalatta Faustina, Miozzo Monica, Dallapiccola Bruno
Published 2009-11-01