Identification of a rare 17p13.3 duplication including the <it>BHLHA9</it> and <it>YWHAE</it> genes in a family with developmental delay and behavioural problems

by Capra Valeria, Mirabelli-Badenier Marisol, Stagnaro Michela, Rossi Andrea, Tassano Elisa, Gimelli Stefania, Gimelli Giorgio
Published 2012-10-01

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the <it>CHL1 </it>gene, from a normal father to his two affected children

by Lerone Margherita, Divizia Maria, Béna Frédérique, Gimelli Stefania, Ronchetto Patrizia, Cuoco Cristina, Mirabelli-Badenier Marisol, Mascaretti Monica, Gimelli Giorgio
Published 2011-04-01

The tumor suppressor gene <it>TRC8/RNF139 </it>is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma

by Fiorio Patrizia, Gregorio Andrea, Gambini Claudio, Drabkin Harry A, Beri Silvana, Gimelli Stefania, Zuffardi Orsetta, Gemmill Robert M, Giorda Roberto, Gimelli Giorgio
Published 2009-07-01

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