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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

Germline bi-allelic <i>SH2B3/LNK</i> alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder by Chloé Arfeuille, Yoann Vial, Margaux Cadenet, Aurélie Caye-Eude, Odile Fenneteau, Quentin Neven, Adeline A Bonnard, Simone Pizzi, Giovanna Carpentieri, Yline Capri, Katia Girardi, Lucia Pedace, Marina Macchiaiolo, Kamel Boudhar, Monia ben Khaled, Wadih Abou Chahla, Anne Lutun, Mony Fahd, Séverine Drunat, Elisabetta Flex, Jean-Hugues Dalle, Marion Strullu, Franco Locatelli, Marco Tartaglia, Hélène Cavé

Get full text

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

Get full text

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

Get full text

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis by Davide Vecchio, Marina Macchiaiolo, Michaela V. Gonfiantini, Filippo M. Panfili, Francesco Petrizzelli, Niccolò Liorni, Niccolò Liorni, Fabiana Cortellessa, Lorenzo Sinibaldi, Ippolita Rana, Emanuele Agolini, Dario Cocciadiferro, Nicole Colantoni, Michela Semeraro, Cristiano Rizzo, Annalisa Deodati, Annalisa Deodati, Nicola Cotugno, Nicola Cotugno, Serena Caggiano, Elisabetta Verrillo, Carlotta G. Nucci, Serpil Alkan, Jorge M. Saraiva, Jorge M. Saraiva, Jorge M. Saraiva, Joaquim De Sá, Pedro M. Almeida, Jayanth Krishna, Paola S. Buonuomo, Diego Martinelli, Carlo Dionisi Vici, Viviana Caputo, Andrea Bartuli, Antonio Novelli, Tommaso Mazza, Tommaso Mazza

Get full text