7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disa...

por Paduano, Francesco, Colao, Emma, Loddo, Sara, Orlando, Valeria, Trapasso, Francesco, Novelli, Antonio, Perrotti, Nicola, Iuliano, Rodolfo
Publicado 2020

Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome

por Paduano, Francesco, Fabiani, Fernanda, Colao, Emma, Trapasso, Francesco, Perrotti, Nicola, Barbieri, Vito, Baudi, Francesco, Iuliano, Rodolfo
Publicado 2021

Flavonoid supplements increase neurotrophin activity to modulate inflammation in retinal genetic diseases

por Kiani, Aysha Karim, Falsini, Benedetto, Ziccardi, Lucia, Gusson, Elena, Mangialavori, Domenica, Allegrini, Francesca, Colao, Emma, Bertelli, Matteo
Publicado 2020

A Case of Premature Ovarian Failure in a 33-Year-Old Woman

por Colao, Emma, Granata, Teresa, Vismara, Marco F. M., Bombardiere, Francesco, Nocera, Donatella, Luciano, Elisa, Perrotti, Nicola, Malatesta, Paola
Publicado 2013

Kinase Inhibitors in Genetic Diseases

por D’Antona, Lucia, Amato, Rosario, Brescia, Carolina, Rocca, Valentina, Colao, Emma, Iuliano, Rodolfo, Blazer-Yost, Bonnie L., Perrotti, Nicola
Publicado 2023

New SLC12A3 disease causative mutation of Gitelman’s syndrome

por Grillone, Teresa, Menniti, Miranda, Bombardiere, Francesco, Vismara, Marco Flavio Michele, Belviso, Stefania, Fabiani, Fernanda, Perrotti, Nicola, Iuliano, Rodolfo, Colao, Emma
Publicado 2016

A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions

por Bruni, Valentina, Spoleti, Cristina Barbara, La Barbera, Andrea, Dattilo, Vincenzo, Colao, Emma, Votino, Carmela, Bellacchio, Emanuele, Perrotti, Nicola, Giglio, Sabrina, Iuliano, Rodolfo
Publicado 2021

The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults

por Zagari, Maria Carmela, Chiarello, Paola, Iuliano, Stefano, D’Antona, Lucia, Rocca, Valentina, Colao, Emma, Perrotti, Nicola, Greco, Francesca, Iuliano, Rodolfo, Aversa, Antonio
Publicado 2022

The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3

por Vismara, Marco Favio Michele, Colao, Emma, Fabiani, Fernanda, Bombardiere, Francesco, Tamburrini, Oscar, Alessio, Caterina, Manti, Francesco, Pelaia, Gerolamo, Romeo, Pasquale, Iuliano, Rodolfo, Perrotti, Nicola
Publicado 2015

A novel ABCC6 variant causative of pseudoxanthoma elasticum

por Contrò, Gianluca, Tallerico, Rossana, Dattilo, Vincenzo, Fabiani, Fernanda, Enzo, Maria Vittoria, Hladnik, Uros, Dastoli, Stefano, Nisticò, Steven Paul, Colao, Emma, Perrotti, Nicola, Iuliano, Rodolfo
Publicado 2019

Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy

por Paduano, Francesco, Colao, Emma, Fabiani, Fernanda, Rocca, Valentina, Dinatolo, Francesca, Dattola, Adele, D’Antona, Lucia, Amato, Rosario, Trapasso, Francesco, Baudi, Francesco, Perrotti, Nicola, Iuliano, Rodolfo
Publicado 2022

A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5

por Paduano, Francesco, Colao, Emma, Grillone, Teresa, Vismara, Marco Flavio Michele, Amato, Rosario, Nisticò, Steven, Mignogna, Chiara, Dastoli, Stefano, Fabiani, Fernanda, Zucco, Rossella, Trapasso, Francesco, Perrotti, Nicola, Iuliano, Rodolfo
Publicado 2021

Internet Use and Access, Behavior, Cyberbullying, and Grooming: Results of an Investigative Whole City Survey of Adolescents

por Vismara, Marco Flavio Michele, Toaff, Joseph, Pulvirenti, Giuliana, Settanni, Chiara, Colao, Emma, Lavano, Serena Marianna, Cemicetti, Riccardo, Cotugno, David, Perrotti, Giuseppe, Meschesi, Viviana, Montera, Roberto, Zepponi, Barbara, Rapetto, Umberto, Marotta, Rosa
Publicado 2017