A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D

by Viola Alesi, Francesca Sessini, Silvia Genovese, Giusy Calvieri, Ester Sallicandro, Laura Ciocca, Maura Mingoia, Antonio Novelli, Paolo Moi
Published 2021-02-01

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

by Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani, Antonio Novelli
Published 2019-06-01

Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review

by Aurora Arghir, Sorina Mihaela Papuc, Andreea‐Cristina Tutulan‐Cunita, Alina Erbescu, Sara Loddo, Silvia Genovese, Laura Ciocca, Marina Goldoni, Carmelo Piscopo, Laura Bernardini, Antonio Novelli, Magdalena Budisteanu
Published 2021-01-01

Homozygous <i>HESX1</i> and <i>COL1A1</i> Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis

by Viola Alesi, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso, Giorgia Catino, Chiara Calacci, Giusy Calvieri, Daniele Pompili, Graziamaria Ubertini, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli
Published 2021-01-01

Extensive Molecular Analysis Suggested the Strong Genetic Heterogeneity of Idiopathic Chronic Pancreatitis

by Valentina Maria Sofia, Letizia Da Sacco, Cecilia Surace, Anna Cristina Tomaiuolo, Silvia Genovese, Simona Grotta, Maria Gnazzo, Stefano Petrocchi, Laura Ciocca, Federico Alghisi, Enza Montemitro, Luigi Martemucci, Ausilia Elce, Vincenzina Lucidi, Giuseppe Castaldo, Adriano Angioni
Published 2016-05-01

Biological, functional and genetic characterization of bone marrow-derived mesenchymal stromal cells from pediatric patients affected by acute lymphoblastic leukemia.

by Antonella Conforti, Simone Biagini, Francesca Del Bufalo, Pietro Sirleto, Adriano Angioni, Nadia Starc, Giuseppina Li Pira, Francesca Moretta, Alessandra Proia, Benedetta Contoli, Silvia Genovese, Claudia Ciardi, Maria Antonietta Avanzini, Vittorio Rosti, Francesco Lo-Coco, Franco Locatelli, Maria Ester Bernardo
Published 2013-01-01