Preventive Long-Term Effects of a Topical Film-Forming Medical Device with Ultra-High UV Protection Filters and DNA Repair Enzyme in Xeroderma Pigmentosum: A Retrospective Study of...

Autor Giustini, Sandra, Miraglia, Emanuele, Berardesca, Enzo, Milani, Massimo, Calvieri, Stefano
Vydáno 2014

Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I

Autor Moramarco, Antonietta, Mallone, Fabiana, Sacchetti, Marta, Lucchino, Luca, Miraglia, Emanuele, Roberti, Vincenzo, Lambiase, Alessandro, Giustini, Sandra
Vydáno v Orphanet J Rare Dis (2021)

Electrophysiological Study of Visual Pathways in Nevoid Basal Cell Carcinoma Syndrome Patients

Autor Moramarco, Antonietta, Alisi, Ludovico, Lambiase, Alessandro, Giustini, Sandra, Lucchino, Luca, Miraglia, Emanuele, Roberti, Vincenzo, Nebbioso, Marcella
Vydáno v Eye Brain (2021)

Ocular manifestations in Gorlin-Goltz syndrome

Autor Moramarco, Antonietta, Himmelblau, Ehud, Miraglia, Emanuele, Mallone, Fabiana, Roberti, Vincenzo, Franzone, Federica, Iacovino, Chiara, Giustini, Sandra, Lambiase, Alessandro
Vydáno v Orphanet J Rare Dis (2019)

Neurofibromatosis Type 1: Ocular Electrophysiological and Perimetric Anomalies

Autor Nebbioso, Marcella, Moramarco, Antonietta, Lambiase, Alessandro, Giustini, Sandra, Marenco, Marco, Miraglia, Emanuele, Fino, Pasquale, Iacovino, Chiara, Alisi, Ludovico
Vydáno v Eye Brain (2020)

PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report

Autor Valentini, Virginia, Zelli, Veronica, Rizzolo, Piera, Silvestri, Valentina, Alimandi, Maurizio, D'Aloia, Maria Michela, Giustini, Sandra, Calvieri, Stefano, Richetta, Antonio Giovanni, Monteleone, Giovanni, Ottini, Laura
Vydáno v Clin Case Rep (2018)

Neurofibromin Deficiency and Extracellular Matrix Cooperate to Increase Transforming Potential through FAK-Dependent Signaling

Autor Errico, Andrea, Stocco, Anna, Riccardi, Vincent M., Gambalunga, Alberto, Bassetto, Franco, Grigatti, Martina, Ferlosio, Amedeo, Tadini, Gianluca, Garozzo, Debora, Ferraresi, Stefano, Trevisan, Andrea, Giustini, Sandra, Rasola, Andrea, Chiara, Federica
Vydáno v Cancers (Basel) (2021)

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Autor Pinna, Valentina, Lanari, Valentina, Daniele, Paola, Consoli, Federica, Agolini, Emanuele, Margiotti, Katia, Bottillo, Irene, Torrente, Isabella, Bruselles, Alessandro, Fusilli, Caterina, Ficcadenti, Anna, Bargiacchi, Sara, Trevisson, Eva, Forzan, Monica, Giustini, Sandra, Leoni, Chiara, Zampino, Giuseppe, Cristina Digilio, Maria, Dallapiccola, Bruno, Clementi, Maurizio, Tartaglia, Marco, De Luca, Alessandro
Vydáno v Eur J Hum Genet (2015)

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Autor Pinna, Valentina, Daniele, Paola, Calcagni, Giulio, Mariniello, Lucio, Criscione, Roberta, Giardina, Chiara, Lepri, Francesca Romana, Hozhabri, Hossein, Alberico, Angela, Cavone, Stefania, Morella, Annunziata Tina, Mandile, Roberta, Annunziata, Francesca, Di Giosaffatte, Niccolò, D’Asdia, Maria Cecilia, Versacci, Paolo, Capolino, Rossella, Strisciuglio, Pietro, Giustini, Sandra, Melis, Daniela, Digilio, Maria Cristina, Tartaglia, Marco, Marino, Bruno, De Luca, Alessandro
Vydáno v Genes (Basel) (2019)

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Autor Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B. M., Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.
Vydáno v Hum Mutat (2019)