Search Results - "Marseglia, Giuseppina"

Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript by BENELLI, Matteo, PESCUCCI, Chiara, MARSEGLIA, Giuseppina, SEVERGNINI, Marco, TORRICELLI, Francesca, MAGI, Alberto

“…The discovery of novel gene fusions can lead to a better comprehension of cancer progression and development. The emergence of deep sequencing of trancriptome,…”
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Sphingosine 1-phosphate induces differentiation of mesoangioblasts towards smooth muscle. A role for GATA6 by Donati, Chiara, Marseglia, Giuseppina, Magi, Alberto, Serratì, Simona, Cencetti, Francesca, Bernacchioni, Caterina, Nannetti, Genni, Benelli, Matteo, Brunelli, Silvia, Torricelli, Francesca, Cossu, Giulio, Bruni, Paola

“…Different cells can contribute to repair following vascular injury by differentiating into smooth muscle (SM) cells; however the extracellular signals involved…”
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Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate by Catusi, Ilaria, Recalcati, Maria Paola, Bestetti, Ilaria, Garzo, Maria, Valtorta, Chiara, Alfonsi, Melissa, Alghisi, Alberta, Cappellani, Stefania, Casalone, Rosario, Caselli, Rossella, Ceccarini, Caterina, Ceglia, Carlo, Ciaschini, Anna Maria, Coviello, Domenico, Crosti, Francesca, D'Aprile, Annamaria, Fabretto, Antonella, Genesio, Rita, Giagnacovo, Marzia, Granata, Paola, Longo, Ilaria, Malacarne, Michela, Marseglia, Giuseppina, Montaldi, Annamaria, Nardone, Anna Maria, Palka, Chiara, Pecile, Vanna, Pessina, Chiara, Postorivo, Diana, Redaelli, Serena, Renieri, Alessandra, Rigon, Chiara, Tiberi, Fabiola, Tonelli, Mariella, Villa, Nicoletta, Zilio, Anna, Zuccarello, Daniela, Novelli, Antonio, Larizza, Lidia, Giardino, Daniela

“…Background Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there is no…”
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Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature by Orrico, Alfredo, Marseglia, Giuseppina, Pescucci, Chiara, Cortesi, Ambra, Piomboni, Paola, Giansanti, Andrea, Gerundino, Francesca, Ponchietti, Roberto

“…Chromosomal defects are relatively frequent in infertile men however, translocations between the Y chromosome and autosomes are rare and less than 40 cases of…”
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Long Reads, Short Time: Feasibility of Prenatal Sample Karyotyping by Nanopore Genome Sequencing by Bartalucci, Niccolò, Romagnoli, Simone, Contini, Elisa, Marseglia, Giuseppina, Magi, Alberto, Guglielmelli, Paola, Pelo, Elisabetta, Vannucchi, Alessandro M

“…Cost-wise, the full process has a reagent price of about 500 Euros (US$547)/ sample, lower than the cost of conventional karyotype plus arrayCGH assay [about…”
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Novel α-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias: A Massively Parallel Sequencing Study by Girolami, Francesca, Iascone, Maria, Tomberli, Benedetta, Bardi, Sara, Benelli, Matteo, Marseglia, Giuseppina, Pescucci, Chiara, Pezzoli, Laura, Sana, Maria Elena, Basso, Cristina, Marziliano, Nicola, Merlini, Piera Angelica, Fornaro, Alessandra, Cecchi, Franco, Torricelli, Francesca, Olivotto, Iacopo

“…BACKGROUND—Next-generation sequencing might be particularly advantageous in genetically heterogeneous conditions, such as hypertrophic cardiomyopathy (HCM), in…”
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372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment by Marseglia, Giuseppina, Scordo, Maria Rosaria, Pescucci, Chiara, Nannetti, Genni, Biagini, Elisabetta, Scandurra, Valeria, Gerundino, Francesca, Magi, Alberto, Benelli, Matteo, Torricelli, Francesca

“…Abstract Several cases of interstitial deletion encompassing band 18q12.3 are described in patients with mild dysmorphic features, mental retardation and…”
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Use of donor bone marrow mesenchymal stem cells for treatment of skin allograft rejection in a preclinical rat model by Sbano, Paolo, Cuccia, Aldo, Mazzanti, Benedetta, Urbani, Serena, Giusti, Betti, Lapini, Ilaria, Rossi, Luciana, Abbate, Rosanna, Marseglia, Giuseppina, Nannetti, Genni, Torricelli, Francesca, Miracco, Clelia, Bosi, Alberto, Fimiani, Michele, Saccardi, Riccardo

“…Recent studies indicate that mesenchymal stem cells (MSC) exhibit a degree of immune privilege due to their ability to suppress T cell mediated responses…”
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16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems by Gerundino, Francesca, Marseglia, Giuseppina, Pescucci, Chiara, Pelo, Elisabetta, Benelli, Matteo, Giachini, Claudia, Federighi, Benedetta, Antonelli, Carla, Torricelli, Francesca

“…Abstract We describe a patient with speech impairment, global developmental delay, behavioural problems and a 186 kb de novo microdeletion on 16p11.2. There…”
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Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System by Gerundino, Francesca, Giachini, Claudia, Contini, Elisa, Benelli, Matteo, Marseglia, Giuseppina, Giuliani, Costanza, Marin, Francesca, Nannetti, Genni, Lisi, Ermanna, Sbernini, Fiammetta, Periti, Enrico, Cordisco, Adalgisa, Colosi, Enrico, D'ambrosio, Valentina, Mazzi, Marta, Rossi, Maya, Staderini, Lucia, Minuti, Barbara, Pelo, Elisabetta, Cicatiello, Rita, Maruotti, Giuseppe Maria, Sglavo, Gabriella, Conti, Anna, Frusconi, Sabrina, Pescucci, Chiara, Torricelli, Francesca

“…Objective: The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing…”
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An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation by Cortesi, Ambra, Rossi, Maja, Mazzi, Marta, Marseglia, Giuseppina, Pescucci, Chiara, Palchetti, Simona, Torricelli, Francesca, Orrico, Alfredo

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A shifting level model algorithm that identifies aberrations in array-CGH data by Magi, Alberto, Benelli, Matteo, Marseglia, Giuseppina, Nannetti, Genni, Scordo, Maria Rosaria, Torricelli, Francesca

“…Array comparative genomic hybridization (aCGH) is a microarray technology that allows one to detect and map genomic alterations. The goal of aCGH analysis is…”
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A very fast and accurate method for calling aberrations in array-CGH data by Benelli, Matteo, Marseglia, Giuseppina, Nannetti, Genni, Paravidino, Roberta, Zara, Federico, Bricarelli, Franca Dagna, Torricelli, Francesca, Magi, Alberto

“…Array comparative genomic hybridization (aCGH) is a microarray technology that allows one to detect and map genomic alterations. The standard workflow of the…”
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Fontaine–Farriaux syndrome: A recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies by Castori, Marco, Silvestri, Evelina, Pedace, Lucia, Marseglia, Giuseppina, Tempera, Alessia, Antigoni, Ivana, Torricelli, Francesca, Majore, Silvia, Grammatico, Paola

“…Craniosynostosis is an etiologically heterogeneous malformation, which may present as an isolated finding or in association with other anomalies. The…”
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Fontaine-Farriaux syndrome: A recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies by Castori, Marco, Silvestri, Evelina, Pedace, Lucia, Marseglia, Giuseppina, Tempera, Alessia, Antigoni, Ivana, Torricelli, Francesca, Majore, Silvia, Grammatico, Paola

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