Showing 1 - 20 results of 24 for search 'S. Agolini', query time: 0.04s
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How Could Medical and Surgical Treatment Affect the Quality of Life in Glaucoma Patients? A Cross-Sectional Study by Marco Rocco Pastore, Serena Milan, Rossella Agolini, Leonardo Egidi, Tiziano Agostini, Lorenzo Belfanti, Gabriella Cirigliano, Daniele Tognetto
Published 2022-12-01
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First Case of a Dominant De Novo <i>SEC23A</i> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review by Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo
Published 2024-01-01
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De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review by Maria Anna Siano, Ilaria De Maggio, Roberta Petillo, Dario Cocciadiferro, Emanuele Agolini, Massimo Majolo, Antonio Novelli, Matteo Della Monica, Carmelo Piscopo
Published 2022-03-01
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Liquid Biopsy with Detection of NRAS<sup>Q61K</sup> Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma by Angela Mastronuzzi, Francesco Fabozzi, Martina Rinelli, Rita De Vito, Emanuele Agolini, Giovanna Stefania Colafati, Antonella Cacchione, Andrea Carai, Maria Antonietta De Ioris
Published 2022-07-01
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Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease by Francesco Fabozzi, Francesco Fabozzi, Rita De Vito, Stefania Gaspari, Fabrizio Leone, Maurizio Delvecchio, Emanuele Agolini, Federica Galaverna, Angela Mastronuzzi, Daria Pagliara, Maria Antonietta De Ioris
Published 2022-12-01
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Exon-Trapping Assay Improves Clinical Interpretation of <i>COL11A1</i> and <i>COL11A2</i> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia by Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, Marco Castori
Published 2020-12-01
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Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aest... by Filippo Maria Panfili, Paola Valente, Andrea Ficari, Fabiana Cortellessa, Davide Vecchio, Michaela Veronika Gonfiantini, Paola Sabrina Buonuomo, Giovanna Stefania Colafati, Emanuele Agolini, Maria Bartuli, Alessandra Claudia Modugno, Marina Macchiaiolo
Published 2023-08-01
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COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells by Andrea Latini, Emanuele Agolini, Antonio Novelli, Paola Borgiani, Rosalinda Giannini, Paolo Gravina, Andrea Smarrazzo, Mario Dauri, Massimo Andreoni, Paola Rogliani, Sergio Bernardini, Manuela Helmer-Citterich, Michela Biancolella, Giuseppe Novelli
Published 2020-08-01
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Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants—differential diagnosis and recommendation for biochemical and genetic screening by Rosalinda Giannini, Emanuele Agolini, Giuseppe Palumbo, Giuseppe Palumbo, Antonio Novelli, Giacomo Garone, Giacomo Garone, Melissa Grasso, Giovanna Stefania Colafati, Marta Matraxia, Eleonora Piccirilli, Annalisa Deodati, Annalisa Deodati, Giulia Ceglie, Giulia Ceglie
Published 2024-01-01
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The Fight Just Born—Neonatal Cancer: Rare Occurrence with a Favorable Outcome but Challenging Management by Maria Antonietta De Ioris, Francesco Fabozzi, Mariachiara Lodi, Giulia Vitali, Maria Debora De Pasquale, Giada Del Baldo, Rachid Abbas, Emanuele Agolini, Alessandro Crocoli, Chiara Iacusso, Giuseppe Maria Milano, Annalisa Serra, Angela Mastronuzzi
Published 2022-04-01
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Pregnancy in women with Hereditary Angioedema due to C1-inhibitor deficiency: Results from the ITACA cohort study on outcome of mothers and children with in utero exposure to plasm... by P. Triggianese, R. Senter, A. Petraroli, A. Zoli, M. Lo Pizzo, D. Bignardi, E. Di Agosta, S. Agolini, F. Arcoleo, O. Rossi, S. Modica, E. Greco, M. S. Chimenti, G. Spadaro, C. De Carolis, M. Cancian
Published 2022-09-01
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Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study by Dario Cocciadiferro, Tommaso Mazza, Davide Vecchio, Tommaso Biagini, Francesco Petrizzelli, Emanuele Agolini, Andrea Villani, Andrea Villani, Daniele Minervino, Diego Martinelli, Cristiano Rizzo, Sara Boenzi, Filippo Maria Panfili, Paola Sabrina Buonuomo, Marina Macchiaiolo, Andrea Bartuli, Antonio Novelli
Published 2024-01-01
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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 Claudia Alteri, Rossana Scutari, Valentino Costabile, Luna Colagrossi, Katia Yu La Rosa, Emanuele Agolini, Valentina Lanari, Sara Chiurchiù, Lorenza Romani, Anna Hermine Markowich, Paola Bernaschi, Cristina Russo, Antonio Novelli, Stefania Bernardi, Andrea Campana, Alberto Villani, Carlo Federico Perno
Published 2022-06-01
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SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome by Anna Maria Caroleo, Silvia Rotulo, Emanuele Agolini, Marina Macchiaiolo, Luigi Boccuto, Manila Antonelli, Giovanna Stefania Colafati, Antonella Cacchione, Giacomina Megaro, Andrea Carai, Maria Antonietta De Ioris, Mariachiara Lodi, Assunta Tornesello, Valeria Simone, Filippo Torroni, Giuseppe Cinalli, Angela Mastronuzzi
Published 2023-08-01
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Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review by Marco Ranalli, Alessandra Boni, Anna Maria Caroleo, Giada Del Baldo, Martina Rinelli, Emanuele Agolini, Sabrina Rossi, Evelina Miele, Giovanna Stefania Colafati, Luigi Boccuto, Iside Alessi, Maria Antonietta De Ioris, Antonella Cacchione, Rossella Capolino, Andrea Carai, Sabina Vennarini, Angela Mastronuzzi
Published 2021-04-01
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Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia by Francesco Fabozzi, Rosalba Carrozzo, Mariachiara Lodi, Angela Di Giannatale, Selene Cipri, Chiara Rosignoli, Isabella Giovannoni, Alessandra Stracuzzi, Teresa Rizza, Claudio Montante, Emanuele Agolini, Michela Di Nottia, Federica Galaverna, Giada Del Baldo, Francesco Del Bufalo, Angela Mastronuzzi, Maria Antonietta De Ioris
Published 2024-01-01
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Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature by Mariachiara Lodi, Luigi Boccuto, Andrea Carai, Antonella Cacchione, Evelina Miele, Giovanna Stefania Colafati, Francesca Diomedi Camassei, Luca De Palma, Alessandro De Benedictis, Elisabetta Ferretti, Giuseppina Catanzaro, Agnese Pò, Alessandro De Luca, Martina Rinelli, Francesca Romana Lepri, Emanuele Agolini, Marco Tartaglia, Franco Locatelli, Angela Mastronuzzi
Published 2020-08-01
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Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis by Alessandra Boni, Marco Ranalli, Giada Del Baldo, Roberto Carta, Mariachiara Lodi, Emanuele Agolini, Martina Rinelli, Diletta Valentini, Sabrina Rossi, Viola Alesi, Antonella Cacchione, Evelina Miele, Iside Alessi, Anna Maria Caroleo, Giovanna Stefania Colafati, Maria Antonietta De Ioris, Luigi Boccuto, Mario Balducci, Andrea Carai, Angela Mastronuzzi
Published 2021-02-01
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Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples by Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli
Published 2021-06-01
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