Search Results - "Guarducci, Silvia"

A rapid and cost-effective diagnostic algorithm for the detection of SARS-CoV-2 infection in the emergency area by combining highly sensitive antigenic test and RT-PCR by Salvetti, Sara, Lavinia, Federica, Rosi, Nico, Vanni, Simone, Masotti, Luca, Tarquini, Roberto, Guarducci, Silvia, Rossolini, Gian Maria, Montenora, Iolanda

“…•Diagnosis of SARS-CoV-2 infection is crucial to limit virus spread in emergency area.•Misidentified diagnosis can expose healthy patients to a risk of…”
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Diagnostic implications of genetic copy number variation in epilepsy plus by Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djémié, Tania, Bartnik‐Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, Dorn, Thomas, Guerrini, Renzo, Hoffman‐Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An‐Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, De Jonghe, Peter, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna‐Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Møller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina, Holmgren, Philip, Leu, Costin, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana, Rosati, Anna, Sander, Josemir, Schoeler, Natasha, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Dijck, Anke, Zuffardi, Orsetta

“…Summary Objective Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge…”
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Predictive factors associated with the acceptance of pandemic and seasonal influenza vaccination in health care workers and students in Tuscany, Central Italy by Bonaccorsi, Guglielmo, Lorini, Chiara, Santomauro, Francesca, Guarducci, Silvia, Pellegrino, Elettra, Puggelli, Francesco, Balli, Marta, Bonanni, Paolo

“…Assessing the beliefs and attitudes of Health Care Workers (HCW) to influenza and influenza vaccination can be useful in overcoming low compliance rates. The…”
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Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission by Tolomeo, Deborah, Rubegni, Anna, Nesti, Claudia, Barghigiani, Melissa, Battini, Roberta, D'Amore, Francesca, Doccini, Stefano, Donati, Maria Alice, Galatolo, Daniele, Giglio, Sabrina, Guarducci, Silvia, Pantaleo, Marilena, Pasquariello, Rosa, Procopio, Elena, Pochiero, Francesca, Tessa, Alessandra, Santorelli, Filippo M M

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Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes by Provenzano, Aldesia, La Barbera, Andrea, Scagnet, Mirko, Pagliazzi, Angelica, Traficante, Giovanna, Pantaleo, Marilena, Tiberi, Lucia, Vergani, Debora, Kurtas, Nehir Edibe, Guarducci, Silvia, Bargiacchi, Sara, Forzano, Giulia, Artuso, Rosangela, Palazzo, Viviana, Kura, Ada, Giordano, Flavio, di Feo, Daniele, Mortilla, Marzia, De Filippi, Claudio, Mattei, Gianluca, Garavelli, Livia, Giusti, Betti, Genitori, Lorenzo, Zuffardi, Orsetta, Giglio, Sabrina

“…Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3–5 mm or more, the frequency of which is presumably much higher than…”
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Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication by Marini, Carla, Cecconi, Antonella, Contini, Elisa, Pantaleo, Marilena, Metitieri, Tiziana, Guarducci, Silvia, Giglio, Sabrina, Guerrini, Renzo, Genuardi, Maurizio

“…Interstitial chromosome 15q11–q13 duplications are associated with developmental delay, behavioral problems and additional manifestations, including epilepsy…”
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PNR-10MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS by Giunti, Laura, Buccoliero, Anna Maria, Pantaleo, Marilena, Guarducci, Silvia, Lucchesi, Maurizio, Palazzo, Viviana, Guidi, Milena, Genitori, Lorenzo, Giglio, Sabrina, Sardi, Iacopo

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Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis by Stagi, Stefano, Lapi, Elisabetta, Seminara, Salvatore, Guarducci, Silvia, Pantaleo, Marilena, Giglio, Sabrina, Chiarelli, Francesco, de Martino, Maurizio

“…Trisomy 9p is an uncommon anomaly characterised by mental retardation, head and facial abnormalities, congenital heart defects, kidney abnormalities, and…”
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Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis by Giunti, Laura, Buccoliero, Anna Maria, Pantaleo, Marilena, Lucchesi, Maurizio, Provenzano, Aldesia, Palazzo, Viviana, Guarducci, Silvia, Guidi, Milena, Genitori, Lorenzo, Zuffardi, Orsetta, Sardi, Iacopo, Giglio, Sabrina

“…Paediatric glioneuronal tumour with neuropil-like islands (GTNI) is a rare neoplasm of neuronal differentiation and diffusely infiltrating astroglial and…”
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Infrared fluorescent automated detection of thirteen short tandem repeat polymorphisms and one gender-determining system of the CODIS core system by Ricci, Ugo, Sani, Ilaria, Guarducci, Silvia, Biondi, Cristina, Pelagatti, Sara, Lazzerini, Valentina, Brusaferri, Alessandra, Lapini, Manuela, Andreucci, Elena, Giunti, Laura, Uzielli, Maria Luisa Giovannucci

“…We used an infrared (IR) automated fluorescence monolaser sequencer for the analysis of 13 autosomal short tandem repeat (STR) systems (TPOX, D3S1358, FGA,…”
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Analysis of 13 tetrameric short tandem repeat loci in a population of Tuscany (Central Italy) performed by means of an automated infrared sequencer by Ricci, Ugo, Sani, Ilaria, Giunti, Laura, Guarducci, Silvia, Coviello, Silvia, Giovannucci Uzielli, Maria Luisa

“…Allele frequencies for the 13 STRs of the Combined DNA Index System (CODIS) core were obtained from a sample of 188 unrelated individuals living in the area of…”
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Chromosome mapping of Miller-Diecker, Smith-Magenis and RARA loci in non-human primates: implications in the evolution of human chromosome 17 by Sineo, Luca, Romagno, Daniela, Guarducci, Silvia, Lapini, Manuela, Giovannucci-Uzielli, Maria Luisa, Chiarelli, Brunetto

“…Molecular cytogenetics allows to verify chromosomal homologies previously hypothesised on the base of banding pattern comparison in different species. So far…”
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Chromosome mapping of GABRB3 and PML loci in macaca and cercopithecus indicates the mechanism of evolution of human chromosome 15 by Romagno, D, Chiarelli, B, Guarducci, S, Uzielli, M L, Sineo, L

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