Bernardini, Laura, Gimelli, Stefania, Gervasini, Cristina, Carella, Massimo, Baban, Anwar, Frontino, Giada, ...
Abstract Background Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either...
Gimelli, Stefania, Beri, Silvana, Drabkin, Harry A, Gambini, Claudio, Gregorio, Andrea, Fiorio, Patrizia, ...
Abstract Background RNF139/TRC8 is a potential tumor suppressor gene with similarity to PTCH, a tumor suppressor implicated in basal cell carcinomas and glioblastomas. TRC8 has the potential to act...
Pezzolo, Annalisa, Rossi, Elena, Gimelli, Stefania, Parodi, Federica, Negri, Francesca, Conte, Massimo, ...
We have addressed the search of novel genetic prognostic markers in a selected cohort of patients with stroma-poor localized resectable neuroblastoma (NB) who underwent relapse or progression (group...
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes (2008)
Sharp, Andrew J, Baker, Carl, Itsara, Andy, Jiang, Zhaoshi, Buysse, Karen, ...
Background: Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of...
Ciccone, Roberto, Magini, Pamela, Pramparo, Tiziano, Gimelli, Stefania, Messa, Jole, ...
Introduction and METHODS: We report the screening of 41 de novo reciprocal translocations and 18 de novo complex chromosome rearrangements (CCRs) using array-CGH. All cases had been interpreted as...
Characterization of a recurrent 15q24 microdeletion syndrome (2007)
Sharp, Andrew J., Selzer, Rebecca R., Veltman, Joris A., Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, ...
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7–3.9 Mb in size). High-resolution analysis showed that in three patients both...
Characterization of a recurrent 15q24 microdeletion syndrome (2007)
Sharp, Andrew J, Selzer, Rebecca R, Veltman, Joris A, Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, ...
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7-3.9 Mb in size). High resolution analysis showed that in three patients both...