1. De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray‐based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly1. Issue 3 (7th February 2013) Authors: Resta, Nicoletta; De Cosmo, Lucrezia; Susca, Francesco Claudio; Capodiferro, Donatella; Nardone, Anna Maria; Pastorivo, Diana; Bertoli, Marta; Serlenga, Carmela; Burattini, MariaGabriella; Schettini, Federico; Laforgia, Nicola Journal: American journal of medical genetics Issue: Volume 161:Issue 3(2013:Mar.) Page Start: 632 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. Issue 2 (7th March 2022) Authors: Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De... Journal: Journal of medical genetics Issue: Volume 60:Issue 2(2023) Page Start: 163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗