Search Results - "Novelli, Antonio"

HLA allele frequencies and susceptibility to COVID‐19 in a group of 99 Italian patients by Novelli, Antonio, Andreani, Marco, Biancolella, Michela, Liberatoscioli, Laura, Passarelli, Chiara, Colona, Vito Luigi, Rogliani, Paola, Leonardis, Francesca, Campana, Andrea, Carsetti, Rita, Andreoni, Massimo, Bernardini, Sergio, Novelli, Giuseppe, Locatelli, Franco

“…With the aim to individuate alleles that may reflect a higher susceptibility to the disease, in the present study we analyzed the HLA allele frequency…”
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Clinical refinement of the SETD5‐associated phenotype in a child displaying novel features and KBG syndrome‐like appearance by Pascolini, Giulia, Gnazzo, Maria, Novelli, Antonio, Grammatico, Paola

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Sovereign Risk, Public Investment and the Fiscal Policy Stance by Cusato Novelli, Antonio, Barcia, Giancarlo

“…Of the different types of government outlays, since the 2000s public investment has been the main variable of adjustment during recessions in advanced and…”
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Assessment of the Space Heating and Domestic Hot Water Market in Europe—Open Data and Results by Pezzutto, Simon, Croce, Silvia, Zambotti, Stefano, Kranzl, Lukas, Novelli, Antonio, Zambelli, Pietro

“…The paper investigates the European space heating (SH) and domestic hot water (DHW) market in order to close knowledge gaps concerning its size. The stimulus…”
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Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies by Grati, Francesca Romana, Molina Gomes, Denise, Ferreira, Jose Carlos Pinto B., Dupont, Celine, Alesi, Viola, Gouas, Laetitia, Horelli-Kuitunen, Nina, Choy, Kwong Wai, García-Herrero, Sandra, de la Vega, Alberto Gonzalez, Piotrowski, Krzysztof, Genesio, Rita, Queipo, Gloria, Malvestiti, Barbara, Hervé, Bérénice, Benzacken, Brigitte, Novelli, Antonio, Vago, Philippe, Piippo, Kirsi, Leung, Tak Yeung, Maggi, Federico, Quibel, Thibault, Tabet, Anne Claude, Simoni, Giuseppe, Vialard, François

“…Objectives The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical…”
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Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients by Novelli, Antonio, Biancolella, Michela, Borgiani, Paola, Cocciadiferro, Dario, Colona, Vito Luigi, D'Apice, Maria Rosaria, Rogliani, Paola, Zaffina, Salvatore, Leonardis, Francesca, Campana, Andrea, Raponi, Massimiliano, Andreoni, Massimo, Grelli, Sandro, Novelli, Giuseppe

“…Coronaviruses (CoV) are a large family of viruses that are common in humans and many animal species. Animal coronaviruses rarely infect humans with the…”
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Editorial: Unravelling the basis of non-invasive prenatal screening results by De Falco, Luigia, Pelo, Elisabetta, Qi, Zhongxia, Novelli, Antonio

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Facial clues to the photosensitive trichothiodystrophy phenotype in childhood by Pascolini, Giulia, Gaudioso, Federica, Baldi, Marina, Alario, Dario, Dituri, Francesco, Novelli, Antonio, Baban, Anwar

“…Among genodermatoses, trichothiodystrophies (TTDs) are a rare genetically heterogeneous group of syndromic conditions, presenting with skin, hair, and nail…”
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Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality by Zito, Alessandra, Lualdi, Marta, Granata, Paola, Cocciadiferro, Dario, Novelli, Antonio, Alberio, Tiziana, Casalone, Rosario, Fasano, Mauro

“…Gene set enrichment analysis (GSEA) is a powerful tool to associate a disease phenotype to a group of genes/proteins. GSEA attributes a specific weight to each…”
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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function by Zilmer, Monica, Edmondson, Andrew C, Khetarpal, Sumeet A, Alesi, Viola, Zaki, Maha S, Rostasy, Kevin, Madsen, Camilla G, Lepri, Francesca R, Sinibaldi, Lorenzo, Cusmai, Raffaella, Novelli, Antonio, Issa, Mahmoud Y, Fenger, Christina D, Abou Jamra, Rami, Reutter, Heiko, Briuglia, Silvana, Agolini, Emanuele, Hansen, Lars, Petäjä-Repo, Ulla E, Hintze, John, Raymond, Kimiyo M, Liedtke, Kristen, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G, Vitali, Cecilia, O'Brien, W Timothy, Gardella, Elena, Rubboli, Guido, Rader, Daniel J, Schjoldager, Katrine T, Møller, Rikke S

“…Congenital disorders of glycosylation are a growing group of rare genetic disorders caused by deficient protein and lipid glycosylation. Here, we report the…”
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Congenital heart defects in molecularly proven Kabuki syndrome patients by Digilio, Maria Cristina, Gnazzo, Maria, Lepri, Francesca, Dentici, Maria Lisa, Pisaneschi, Elisa, Baban, Anwar, Passarelli, Chiara, Capolino, Rossella, Angioni, Adriano, Novelli, Antonio, Marino, Bruno, Dallapiccola, Bruno

“…The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a…”
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Object-Based Greenhouse Mapping Using Very High Resolution Satellite Data and Landsat 8 Time Series by Aguilar, Manuel, Nemmaoui, Abderrahim, Novelli, Antonio, Aguilar, Fernando, García Lorca, Andrés

“…Greenhouse mapping through remote sensing has received extensive attention over the last decades. In this article, the innovative goal relies on mapping…”
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A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined by Milone, Roberta, Gnazzo, Maria, Stefanutti, Elena, Serafin, Dorella, Novelli, Antonio

“…Coffin–Siris syndrome (CSS) is a neurodevelopmental disorder characterized by somatic dysmorphic features, developmental and speech delay. It is due to…”
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Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation by Alteri, Claudia, Scutari, Rossana, Costabile, Valentino, Colagrossi, Luna, Yu La Rosa, Katia, Agolini, Emanuele, Lanari, Valentina, Chiurchiù, Sara, Romani, Lorenza, Markowich, Anna Hermine, Bernaschi, Paola, Russo, Cristina, Novelli, Antonio, Bernardi, Stefania, Campana, Andrea, Villani, Alberto, Perno, Carlo Federico

“…Since the start of SARS-CoV-2 pandemic, children aged ≤ 12 years have always been defined as underrepresented in terms of SARS-CoV-2 infections’ frequency and…”
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Sovereign default, political instability and political fragmentation by Cusato Novelli, Antonio

“…This paper studies sovereign borrowing and default in an economy in which self‐interested political parties bargain over the budget and there is political…”
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The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect by Del Baldo, Giada, Mastronuzzi, Angela, Cipri, Selene, Agolini, Emanuele, Matraxia, Marta, Novelli, Antonio, Cacchione, Antonella, Serra, Annalisa, Carai, Andrea, Boccuto, Luigi, Colafati, Giovanna Stefania, Di Paolo, Pier Luigi, Miele, Evelina, Barresi, Sabina, Alaggio, Rita, Rossi, Sabrina, Giovannoni, Isabella

“…Cancer predisposition syndromes are recognized in about 10% of pediatric malignancies with several genes specifically involved in a subset of pediatric tumors…”
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Greenhouse Crop Identification from Multi-Temporal Multi-Sensor Satellite Imagery Using Object-Based Approach: A Case Study from Almería (Spain) by Nemmaoui, Abderrahim, Aguilar, Manuel A., Aguilar, Fernando J., Novelli, Antonio, García Lorca, Andrés

“…A workflow headed up to identify crops growing under plastic-covered greenhouses (PCG) and based on multi-temporal and multi-sensor satellite data is developed…”
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Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review by Trivisano, Marina, Butera, Ambra, Quintavalle, Chiara, De Dominicis, Angela, Calabrese, Costanza, Cappelletti, Simona, Vigevano, Federico, Novelli, Antonio, Specchio, Nicola

“…Introduction SLC6A1 pathogenic variants have been associated with epilepsy and neurodevelopmental disorders. The clinical phenotype includes different seizure…”
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Hypoglycaemia Metabolic Gene Panel Testing by Maiorana, Arianna, Lepri, Francesca Romana, Novelli, Antonio, Dionisi-Vici, Carlo

“…A large number of inborn errors of metabolism present with hypoglycemia. Impairment of glucose homeostasis may arise from different biochemical pathways…”
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Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease by Siri, Barbara, Olivieri, Giorgia, Lepri, Francesca Romana, Poms, Martin, Goffredo, Bianca Maria, Commone, Anna, Novelli, Antonio, Häberle, Johannes, Dionisi-Vici, Carlo

“…Ornithine Transcarbamylase Deficiency (OTCD) is an X-linked urea cycle disorder characterized by acute hyperammonemic episodes. Hemizygous males are usually…”
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