Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Dalila Capasso"'
Autor:
Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100314- (2024)
Summary: Inherited retinal diseases (IRDs) are a group of rare monogenic diseases with high genetic heterogeneity (pathogenic variants identified in over 280 causative genes). The genetic diagnostic rate for IRDs is around 60%, mainly thanks to the r
Externí odkaz:
https://doaj.org/article/e17626b213a24c63b6a4df65247a5db9
Autor:
Karla Alejandra Ruiz-Ceja, Dalila Capasso, Michele Pinelli, Eugenio Del Prete, Diego Carrella, Diego di Bernardo, Sandro Banfi
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-11 (2023)
Abstract Background Inherited retinal diseases (IRD) are genetically heterogeneous disorders that cause the dysfunction or loss of photoreceptor cells and ultimately lead to blindness. To date, next-generation sequencing procedures fail to detect pat
Externí odkaz:
https://doaj.org/article/10ba011192cc4b3abc348633bab9ded7
Autor:
Annalaura Montella, Vito Alessandro Lasorsa, Mario Capasso, Maria Valeria Corrias, Alberto Garaventa, Flora Cimmino, Loredana Amoroso, Alessandro Quattrone, Achille Iolascon, Riccardo Haupt, Dalila Capasso, Antonella Cardinale, Sueva Cantalupo, Marianna Avitabile
Publikováno v:
Journal of Cellular and Molecular Medicine
The genetic aetiology and the molecular mechanisms that characterize high‐risk neuroblastoma are still little understood. The majority of high‐risk neuroblastoma patients do not take advantage of current induction therapy. So far, one of the main