The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children’s Hospital by Francesca De Lorenzo, Marina Macchiaiolo, Carla Maria Carlevaris, Andrea Bartuli

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Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsi... by Filippo M. Panfili, Andrea Pietrobattista, Davide Vecchio, Michaela V. Gonfiantini, Andrea Bartuli, Marina Macchiaiolo

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Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype by Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli

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Two Italian Patients with <i>ELOVL4</i>-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization by Andrea Diociaiuti, Diego Martinelli, Francesco Nicita, Claudia Cesario, Elisa Pisaneschi, Marina Macchiaiolo, Sabrina Rossi, Angelo Giuseppe Condorelli, Giovanna Zambruno, May El Hachem

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Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1 by Antonella Cacchione, Alessia Carboni, Mariachiara Lodi, Rita De Vito, Andrea Carai, Antonio Marrazzo, Marina Macchiaiolo, Ioan Paul Voicu, Angela Mastronuzzi, Giovanna Stefania Colafati

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Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency by Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia, Andrea Bartuli

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A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing by Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli

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Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome by Mariachiara Lodi, Antonio Marrazzo, Antonella Cacchione, Marina Macchiaiolo, Antonino Romanzo, Luciano Mastronardi, Francesca Diomedi-Camassei, Alessia Carboni, Andrea Carai, Carlo Gandolfo, Lidia Monti, Angela Mastronuzzi, Giovanna Stefania Colafati

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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

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Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion by Manuela Lo Bianco, Davide Vecchio, Tiziana A. Timpanaro, Alessia Arena, Marina Macchiaiolo, Andrea Bartuli, Laura Sciuto, Santiago Presti, Sarah Sciuto, Annamaria Sapuppo, Agata Fiumara, Lidia Marino, Giulia Messina, Piero Pavone

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A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report by Marina Macchiaiolo, Filippo M. Panfili, Davide Vecchio, Michaela V. Gonfiantini, Fabiana Cortellessa, Cristina Caciolo, Marcella Zollino, Maria Accadia, Marco Seri, Marcello Chinali, Corrado Mammì, Marco Tartaglia, Andrea Bartuli, Paolo Alfieri, Manuela Priolo

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Highlighting the bone cells alterations in Gorham-Stout Disease by Michela Rossi, Ippolita Rana, Giulia Battafarano, Eda Mariani, Viviana De Martino, Rita De Vito, Matteo D'Agostini, Marina Macchiaiolo, Michaela V. Gonfiantini, Alessandro Jenkner, Paola Sabrina Buonuomo, Andrea Bartuli, Andrea Del Fattore

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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

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Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome by Paolo Alfieri, Marina Macchiaiolo, Martina Collotta, Federica Alice Maria Montanaro, Cristina Caciolo, Francesca Cumbo, Paolo Galassi, Filippo Maria Panfili, Fabiana Cortellessa, Marcella Zollino, Maria Accadia, Marco Seri, Marco Tartaglia, Andrea Bartuli, Corrado Mammì, Stefano Vicari, Manuela Priolo

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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

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Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development by Maria Luca, Diana Carli, Simona Cardaropoli, Donatella Milani, Guido Cocchi, Chiara Leoni, Marina Macchiaiolo, Andrea Bartuli, Luigi Tarani, Daniela Melis, Piera Bontempo, Gemma D’Elia, Elisabetta Prada, Raffaele Vitale, Angelina Grammegna, Pierpaola Tannorella, Angela Sparago, Laura Pignata, Andrea Riccio, Silvia Russo, Giovanni Battista Ferrero, Alessandro Mussa

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Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study by Antonella Cacchione MD, Francesco Fabozzi MD, Andrea Carai MD, PhD, Giovanna Stefania Colafati MD, Giada del Baldo MD, Sabrina Rossi MD, Martino Diana MD, Giacomina Megaro MD, Giuseppe Maria Milano MD, PhD, Marina Macchiaiolo MD, Alessandro Crocoli MD, Maria Antonietta De Ioris MD, Luigi Boccuto MD, Domitilla Elena Secco MD, Mario Zama MD, Emanuele Agolini MD, Paolo Tomà, Angela Mastronuzzi MD, PhD

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Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish by Giulia Fasano, Valentina Muto, Francesca Clementina Radio, Martina Venditti, Niloufar Mosaddeghzadeh, Simona Coppola, Graziamaria Paradisi, Erika Zara, Farhad Bazgir, Alban Ziegler, Giovanni Chillemi, Lucia Bertuccini, Antonella Tinari, Annalisa Vetro, Francesca Pantaleoni, Simone Pizzi, Libenzio Adrian Conti, Stefania Petrini, Alessandro Bruselles, Ingrid Guarnetti Prandi, Cecilia Mancini, Balasubramanian Chandramouli, Magalie Barth, Céline Bris, Donatella Milani, Angelo Selicorni, Marina Macchiaiolo, Michaela V. Gonfiantini, Andrea Bartuli, Riccardo Mariani, Cynthia J. Curry, Renzo Guerrini, Anne Slavotinek, Maria Iascone, Bruno Dallapiccola, Mohammad Reza Ahmadian, Antonella Lauri, Marco Tartaglia

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