Search Results - "Panfili, Arianna"

Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay by Concolino, Paola, De Paolis, Elisa, Rinelli, Martina, Maneri, Giulia, Brisighelli, Francesca, Trozzi, Rita, Duranti, Simona, Giacò, Luciano, Piane, Maria, Preziosi, Alessia, Panfili, Arianna, Scambia, Giovanni, Nero, Camilla, De Bonis, Maria, Minucci, Angelo

“…KCI Citation Count: 0…”
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Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care by Baban, Anwar, Parlapiano, Giovanni, Cicenia, Marianna, Armando, Michela, Franceschini, Alessio, Pacifico, Concettina, Panfili, Arianna, Zinzanella, Gaetano, Romanzo, Antonino, Fusco, Adelaide, Caiazza, Martina, Perri, Gianluigi, Galletti, Lorenzo, Digilio, Maria Cristina, Buonuomo, Paola Sabrina, Bartuli, Andrea, Novelli, Antonio, Raponi, Massimiliano, Limongelli, Giuseppe

“…Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition…”
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Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype by Pasquetti, Domizia, L'Erario, Federica Francesca, Marangi, Giuseppe, Panfili, Arianna, Chiurazzi, Pietro, Sonnini, Elena, Orteschi, Daniela, Alfieri, Paolo, Morleo, Manuela, Nigro, Vincenzo, Zollino, Marcella

“…Pitt‐Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder characterised by severe intellectual disability (ID), distinctive facial features and…”
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Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? by Lucci-Cordisco, Emanuela, Amenta, Simona, Panfili, Arianna, del Valle, Jesús, Capellá, Gabriel, Pineda, Marta, Genuardi, Maurizio

“…One of the main factors influencing the clinical utility of genetic tests for cancer predisposition is the ability to provide actionable classifications (ie…”
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Identification of a False-positive Multiplex Ligation-dependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay by Concolino, Paola, Paolis, Elisa De, Rinelli, Martina, Maneri, Giulia, Brisighelli, Francesca, Trozzi, Rita, Duranti, Simona, Giacò, Luciano, Piane, Maria, Preziosi, Alessia, Panfili, Arianna, Scambia, Giovanni, Nero, Camilla, Bonis, Maria De, Minucci, Angelo

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The role of folate metabolism enzymes snps in non-obstructive azoospermia: A systematic review and meta-analysis by Beccia, Flavia, La Gatta, Emanuele, Zaçe, Drieda, Hoxhaj, Ilda, Panfili, Arianna, Petrella, Luigi, Di Pietro, Maria, Genuardi, Maurizio

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Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1 by Bigoni, Stefania, Marangi, Giuseppe, Frangella, Silvia, Panfili, Arianna, Ognibene, Davide, Squeo, Gabriella Maria, Merla, Giuseppe, Zollino, Marcella

“…Massive parallel sequencing of 70 genes in a girl with a suspicion of chromatinopathy detected the (NM_015443.4:)c.985_986delTT variant in exon 2 of KANSL1,…”
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Impact of Comprehensive Genome Profiling on the Management of Advanced Non-Small Cell Lung Cancer: Preliminary Results From the Lung Cancer Cohort of the FPG500 Program by Vitale, Antonio, Mastrantoni, Luca, Russo, Jacopo, Giacomini, Flavia, Giannarelli, Diana, Duranti, Simona, Vita, Emanuele, Nero, Camilla, D'Argento, Ettore, Pasciuto, Tina, Giacò, Luciano, Di Salvatore, Mariantonietta, Panfili, Arianna, Stefani, Alessio, Cancellieri, Alessandra, Lococo, Filippo, De Paolis, Elisa, Livi, Vanina, Daniele, Gennaro, Trisolini, Rocco, Minucci, Angelo, Margaritora, Stefano, Lorusso, Domenica, Normanno, Nicola, Scambia, Giovanni, Tortora, Giampaolo, Bria, Emilio

“…The clinical and research FPG500 program (ClinicalTrials.gov identifier: NCT06020625) is currently ongoing at the Fondazione Policlinico Universitario Agostino…”
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