Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency

por Di Dato, Fabiola, Capalbo, Donatella, Mirra, Rita, Del Vecchio Blanco, Francesca, Salerno, Mariacarolina, Iorio, Raffaele
Publicado 2021

Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically

por Torella, Annalaura, Budillon, Alberto, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Picillo, Esther, Politano, Luisa, Nigro, Vincenzo, Piluso, Giulio
Publicado 2023

Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement

por Onore, Maria Elena, Torella, Annalaura, Musacchia, Francesco, D’Ambrosio, Paola, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Piluso, Giulio, Nigro, Vincenzo
Publicado 2021

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

por Torella, Annalaura, Zanobio, Mariateresa, Zeuli, Roberta, del Vecchio Blanco, Francesca, Savarese, Marco, Giugliano, Teresa, Garofalo, Arcomaria, Piluso, Giulio, Politano, Luisa, Nigro, Vincenzo
Publicado 2020

A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect

por Fontana, Paolo, Budillon, Alberto, Simeone, Domenico, Del Vecchio Blanco, Francesca, Caiazza, Martina, D’Amico, Alessandra, Lonardo, Fortunato, Nigro, Vincenzo, Limongelli, Giuseppe, Scarano, Gioacchino
Publicado 2023

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

por Santoro, Claudia, Giugliano, Teresa, Bernardo, Pia, Palladino, Federica, Torella, Annalaura, del Vecchio Blanco, Francesca, Onore, Maria Elena, Carotenuto, Marco, Nigro, Vincenzo, Piluso, Giulio
Publicado 2020

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

por Torella, Annalaura, Fanin, Marina, Mutarelli, Margherita, Peterle, Enrico, Del Vecchio Blanco, Francesca, Rispoli, Rossella, Savarese, Marco, Garofalo, Arcomaria, Piluso, Giulio, Morandi, Lucia, Ricci, Giulia, Siciliano, Gabriele, Angelini, Corrado, Nigro, Vincenzo
Publicado 2013

Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells

por Marchese, Emanuela, Caterino, Marianna, Viggiano, Davide, Cevenini, Armando, Tolone, Salvatore, Docimo, Ludovico, Di Iorio, Valentina, Del Vecchio Blanco, Francesca, Fedele, Roberta, Simonelli, Francesca, Perna, Alessandra, Nigro, Vincenzo, Capasso, Giovambattista, Ruoppolo, Margherita, Zacchia, Miriam
Publicado 2022

Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies

por Zacchia, Miriam, Capolongo, Giovanna, Del Vecchio Blanco, Francesca, Secondulfo, Floriana, Gupta, Neha, Blasio, Giancarlo, Pollastro, Rosa Maria, Cervesato, Angela, Piluso, Giulio, Gigliotti, Giuseppe, Torella, Annalaura, Nigro, Vincenzo, Perna, Alessandra F., Capasso, Giovambattista, Trepiccione, Francesco
Publicado 2023

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

por Giugliano, Teresa, Santoro, Claudia, Torella, Annalaura, Del Vecchio Blanco, Francesca, Grandone, Anna, Onore, Maria Elena, Melone, Mariarosa Anna Beatrice, Straccia, Giulia, Melis, Daniela, Piccolo, Vincenzo, Limongelli, Giuseppe, Buono, Salvatore, Perrotta, Silverio, Nigro, Vincenzo, Piluso, Giulio
Publicado 2019