showing 2 related works from this author
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability
2022
The X-linked gene encoding aristaless-related homeobox (ARX) is a bi-functional transcription factor capable of activating or repressing gene transcription, whose mutations have been found in a wide spectrum of neurodevelopmental disorders (NDDs); these include cortical malformations, paediatric epilepsy, intellectual disability (ID) and autism. In addition to point mutations, duplications of the ARX locus have been detected in male patients with ID. These rearrangements include telencephalon ultraconserved enhancers, whose structural alterations can interfere with the control of ARX expression in the developing brain. Here, we review the structural features of 15 gain copy-number variants …
The Contribution of Electrical Resistivity Measurements to the Analysis of Landslide Events
2005
In order to gain insight into the study of natural avalanches dynamics, we illustrate a statistical model based on a dissipative dynamical variable associated to a position dependent factor of safety field. This model, as experimentally demonstrated, is able to reproduce the complex structure of landslide events, such as power-law distributions. In this paper, we introduce an explicit dependence of the safety factor on the electrical resistivity to simulate landslide events in pyroclastic soils. An application of the model to data acquired in a test area characterized by flowslide events (Monte Albino, Campania Region - South Italy) bear witness the relevant role played by the resistivity m…