Bibliotecas PUC-SP - Busca Integrada

Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes

Por Enrico Attardi, Lucia Tiberi, Giorgio Mattiuz, Daniela Formicola, Elia Dirupo, Marco G. Raddi, Angela Consagra, Debora Vergani, Rosangela Artuso, Valeria Santini
Publicado no HemaSphere (2024-07-01)

Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature

Por Boaz Palterer, Boaz Palterer, Lorenzo Salvati, Manuela Capone, Valentina Mecheri, Laura Maggi, Alessio Mazzoni, Lorenzo Cosmi, Lorenzo Cosmi, Nila Volpi, Lucia Tiberi, Lucia Tiberi, Aldesia Provenzano, Sabrina Giglio, Paola Parronchi, Paola Parronchi, Giandomenico Maggiore, Oreste Gallo, Alessandro Bartoloni, Francesco Annunziato, Francesco Annunziato, Lorenzo Zammarchi, Lorenzo Zammarchi, Francesco Liotta, Francesco Liotta
Publicado no Frontiers in Immunology (2022-04-01)

Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?

Por Camilla Rocca, Lucia Tiberi, Sara Bargiacchi, Viviana Palazzo, Samuela Landini, Elisa Marziali, Roberto Caputo, Francesca Tinelli, Viviana Marchi, Alessandro Benedetto, Angelica Pagliazzi, Giacomo Maria Bacci
Publicado no International Journal of Molecular Sciences (2022-07-01)

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature

Por Alessandro Barbato, Giulia Gori, Michele Sacchini, Francesca Pochiero, Sara Bargiacchi, Giovanna Traficante, Viviana Palazzo, Lucia Tiberi, Claudia Bianchini, Davide Mei, Elena Parrini, Tiziana Pisano, Elena Procopio, Renzo Guerrini, Angela Peron, Stefano Stagi
Publicado no Endocrine Connections (2024-10-01)

Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights

Por Giacomo M. Bacci, Elisa Marziali, Sara Bargiacchi, Michel Paques, Gianni Virgili, Pina Fortunato, Marine Durand, Camilla Rocca, Angelica Pagliazzi, Viviana Palazzo, Lucia Tiberi, Debora Vergani, Samuela Landini, Angela Peron, Rosangela Artuso, Bianca Pacini, Monica Stabile, Andrea Sodi, Roberto Caputo
Publicado no Scientific Reports (2024-07-01)