Search results for "MOSAICI"
showing 10 items of 68 documents
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
2021
Contains fulltext : 231688.pdf (Publisher’s version ) (Closed access) PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic spectrum of NEXMIF encephalopathy. METHODS: Through an international collaboration, we analyzed the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy. RESULTS: Sixty-three females and 24 males (46 new patients) with NEXMIF encephalopathy were studied, with 30 novel variants. Phenotypic features included developmental delay/ID in 86/87 (99%), seizures in 71/86 (83%) and multiple comorbidi…
Faceting and structural anisotropy of nanopatterned CdO(110) layers
2005
CdO(110) layers with a self-organized surface structure have been grown on (10math0) sapphire (m plane) substrates by metal-organic vapor phase epitaxy. The epitaxial relationships between layer and substrate have been determined and a crystallographic model that accounts for the CdO in-plane orientation, which results in a reduced lattice mismatch when the CdO[001] direction is perpendicular to the sapphire c axis, has been proposed. Although the measured lattice parameters indicate that the layers are almost fully relaxed, an anisotropic mosaicity is detected with symmetrical rocking curves attaining minimum values when measured along the CdO[math10] direction. The layer morphology consis…
Tecsis: Low-Cost Methodology To Distinguish Archaeological Findings
2006
The automatic or semi-automatic research of archaeological findings includes some methodologies and algorithms of the Computer Vision. Reconstruction of a scene is one of the key step to get the solution to that challenge. This paper will address a methodology to reconstruction underwater scenes with mosaicing techniques. The reconstruction of scene will be the video-mosaic of sea bottom landscapes starting from single video frames. The methodology is based on the evaluation of the optic °ow in between frames, and its motion estimation has been evaluated on the extracted features from the common areas of consecutive pairs frames. This approach carried out the motion model from a geometric p…
Inheritance and variable expression in Rubinstein-Taybi syndrome.
2010
Familial Rubinstein-Taybi syndrome (RTS) is very rare. Here we report on the 6th and 7th case of inherited RTS. Family 1 presents with incomplete or mild RTS over three generations; a 13-year-old girl (proband 1) with mild but typical facial features and learning disabilities, her very mildly affected mother (proband 2), and the maternal grandmother (proband 3). Family 2 includes three females with classical RTS (probands 4-6) and their father (proband 7) with broad thumbs and halluces. Proband 5 also had a brain tumor (ganglioglioma) at the age of 3 years. In probands 1-3, direct sequencing identified a novel CREBBP missense mutation, c.2728A > G (predicting p.Thr910Ala), that was absent i…
Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication
2019
Madonie, L'arte e la storia
2021
Il volume esamina il patrimonio storico artistico dei seguenti paesi delle Madonie: Caltavuturo, Castelbuono, Cefalù, Collesano, Geraci Siculo, Gangi, Gratteri, Isnello, Petralia Soprana, Petralia Sottana, Polizzi Generosa, Pollina, San Mauro Castelverde e Sclafani Bagni. Per ogni singolo borgo si affronta brevemente la storia della città e successivamente si esaminano le chiese e le opere d’arte ivi contenute, iniziando dalla Chiesa Madre o dalla Basilica per poi continuare con gli altri edifici chiesastici e i palazzi nobiliari. Particolare attenzione viene riservata all’architettura, come le chiese medievali e rinascimentali di Castelbuono, Gratteri e Isnello o quelle barocche e rococò d…
La rappresentazione dell'architettura in alcuni rivestimenti musivi di epoca medievale in Sicilia
2019
Nei mosaici che decorano le chiese costruite in Sicilia nel XII dai re normanni compaiono rappresentazioni di edifici. Tali rappresentazioni, come frequentemente accade in epoca pre-rinascimentale, condensano, per accostamento, diverse ‘viste’ dello stesso edificio. La presenza negli edifici normanni di pavimenti e manufatti lignei decorati secondo pattern geometrici, ha suggerito la ricerca di analoghi tracciati nei rivestimenti musivi. L’analisi grafica propone la presenza di quadrati e ottagoni stellati in un mosaico della Cappella palatina di Palermo che raffigura un padiglione coperto da una cupola. Many buildings are depicted in the mosaic panels that enrich the churches built in Sici…
Frammenti di mosaico riportati su calcestruzzo:le interazioni con il supporto e il progetto di conservazione
2010
Super-resolution-based magnification of endothelium cells from biomicroscope videos of the cornea
2018
We present a practical, robust, and effective pipeline to compute a high-resolution (HR) image of the corneal endothelium starting from a low-resolution (LR) video sequence obtained with a general purpose slit lamp biomicroscope. An image quality typical of dedicated and more expensive confocal microscopes is achieved via software magnification by exploiting information redundancy in the video sequence. In particular, the HR image is generated from the best LR frames, obtained by identifying the most suitable endothelium video subsequence using a support vector machine-based learning approach, followed by a robust graph-based frame registration. Results on long, real sequences show that the…
Color Correction for Image Stitching by Monotone Cubic Spline Interpolation
2015
This paper proposes a novel color correction scheme for image stitching where the color map transfer is modelled by a monotone Hermite cubic spline and smoothly propagated into the target image. A three-segments monotone cubic spline minimizing color distribution statistics and gradient differences with respect to both the source and target images is used. While the spline model can handle non-linear color maps, the minimization over the gradient differences limits strong alterations on the image structure. Adaptive heuristics are introduced to reduce the minimization search space and thus computational time. Experimental comparisons with respect to the state-of-the-art linear mapping model…