Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

by Genesio, Rita, Ronga, Valentina, Castelluccio, Pia, Fioretti, Gennaro, Mormile, Angela, Leone, Graziella, Conti, Anna, Cavaliere, Maria Luigia, Nitsch, Lucio
Published 2013

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

by Genesio, Rita, Fontana, Paolo, Mormile, Angela, Casertano, Alberto, Falco, Mariateresa, Conti, Anna, Franzese, Adriana, Mozzillo, Enza, Nitsch, Lucio, Melis, Daniela
Published 2015

Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

by Conti, Anna, Fabbrini, Floriana, D'Agostino, Paola, Negri, Rosa, Greco, Dario, Genesio, Rita, D'Armiento, Maria, Olla, Carlo, Paladini, Dario, Zannini, Mariastella, Nitsch, Lucio
Published 2007

Lithium chloride induces mesenchymal-to-epithelial reverting transition in primary colon cancer cell cultures

by COSTABILE, VALERIA, DURATURO, FRANCESCA, DELRIO, PAOLO, REGA, DANIELA, PACE, UGO, LICCARDO, RAFFAELLA, ROSSI, GIOVANNI BATTISTA, GENESIO, RITA, NITSCH, LUCIO, IZZO, PAOLA, DE ROSA, MARINA
Published 2015

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

by Cappuccio, Gerarda, Vitiello, Francesco, Casertano, Alberto, Fontana, Paolo, Genesio, Rita, Bruzzese, Dario, Ginocchio, Virginia Maria, Mormile, Angela, Nitsch, Lucio, Andria, Generoso, Melis, Daniela
Published 2016

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

by Genesio, Rita, Mormile, Angela, Licenziati, Maria Rosaria, De Brasi, Daniele, Leone, Graziella, Balzano, Sara, Izzo, Antonella, Bonfiglio, Ferdinando, Conti, Anna, Fioretti, Gennaro, Lenta, Selvaggia, Poggiano, Maria Rita, Siani, Paolo, Nitsch, Lucio
Published 2015

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

by Mozzillo, Enza, Delvecchio, Maurizio, Carella, Massimo, Grandone, Elvira, Palumbo, Pietro, Salina, Alessandro, Aloi, Concetta, Buono, Pietro, Izzo, Antonella, D’Annunzio, Giuseppe, Vecchione, Gennaro, Orrico, Ada, Genesio, Rita, Simonelli, Francesca, Franzese, Adriana
Published 2014