The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene
Torella, Annalaura, Zanobio, Mariateresa, Zeuli, Roberta, del Vecchio Blanco, Francesca, Savarese, Marco, Giugliano, Teresa, Garofalo, Arcomaria, Piluso, Giulio, Politano, Luisa, Nigro, Vincenzo
Published in PloS one (19.08.2020)
Published in PloS one (19.08.2020)
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An atypical Aymé‐Gripp phenotype detected by exome sequencing
Caiazza, Martina, Budillon, Alberto, Monda, Emanuele, Aruta, Giustina, Esposito, Augusto, Del Vecchio Blanco, Francesca, Piluso, Giulio, Nigro, Vincenzo, Scarano, Gioacchino, Limongelli, Giuseppe
Published in American journal of medical genetics. Part A (01.01.2024)
Published in American journal of medical genetics. Part A (01.01.2024)
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Journal Article
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically
Torella, Annalaura, Budillon, Alberto, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Picillo, Esther, Politano, Luisa, Nigro, Vincenzo, Piluso, Giulio
Published in International journal of molecular sciences (25.05.2023)
Published in International journal of molecular sciences (25.05.2023)
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Journal Article
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome
Sambri, Irene, Ferniani, Marco, Campostrini, Giulia, Testa, Marialuisa, Meraviglia, Viviana, de Araujo, Mariana E. G., Dokládal, Ladislav, Vilardo, Claudia, Monfregola, Jlenia, Zampelli, Nicolina, Vecchio Blanco, Francesca Del, Torella, Annalaura, Ruosi, Carolina, Fecarotta, Simona, Parenti, Giancarlo, Staiano, Leopoldo, Bellin, Milena, Huber, Lukas A., De Virgilio, Claudio, Trepiccione, Francesco, Nigro, Vincenzo, Ballabio, Andrea
Published in Nature communications (15.05.2023)
Published in Nature communications (15.05.2023)
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Journal Article
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
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
Published in PloS one (07.05.2013)
Published in PloS one (07.05.2013)
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Journal Article
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect
Fontana, Paolo, Budillon, Alberto, Simeone, Domenico, Del Vecchio Blanco, Francesca, Caiazza, Martina, D'Amico, Alessandra, Lonardo, Fortunato, Nigro, Vincenzo, Limongelli, Giuseppe, Scarano, Gioacchino
Published in Genes (14.07.2023)
Published in Genes (14.07.2023)
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Journal Article
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism
Giugliano, Teresa, Santoro, Claudia, Torella, Annalaura, Del Vecchio Blanco, Francesca, Bernardo, Pia, Nigro, Vincenzo, Piluso, Giulio
Published in American journal of medical genetics. Part A (01.03.2018)
Published in American journal of medical genetics. Part A (01.03.2018)
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Journal Article
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders
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
Published in Genes (31.07.2019)
Published in Genes (31.07.2019)
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Journal Article
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report
Santoro, Claudia, Giugliano, Teresa, Bernardo, Pia, Palladino, Federica, Torella, Annalaura, Del Vecchio Blanco, Francesca, Onore, Maria Elena, Carotenuto, Marco, Nigro, Vincenzo, Piluso, Giulio
Published in BMC neurology (01.09.2020)
Published in BMC neurology (01.09.2020)
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Journal Article
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement
Onore, Maria Elena, Torella, Annalaura, Musacchia, Francesco, D'Ambrosio, Paola, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Piluso, Giulio, Nigro, Vincenzo
Published in Genes (21.01.2021)
Published in Genes (21.01.2021)
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Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies
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
Published in Genes (21.03.2023)
Published in Genes (21.03.2023)
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Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells
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
Published in iScience (18.11.2022)
Published in iScience (18.11.2022)
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Journal Article
Urine concentrating defect as presenting sign of progressive renal failure in Bardet–Biedl syndrome patients
Zacchia, Miriam, Blanco, Francesca Del Vecchio, Torella, Annalaura, Raucci, Raffaele, Blasio, Giancarlo, Onore, Maria Elena, Marchese, Emanuela, Trepiccione, Francesco, Vitagliano, Caterina, Iorio, Valentina Di, Alessandra, Perna, Simonelli, Francesca, Nigro, Vincenzo, Capasso, Giovambattista, Viggiano, Davide
Published in Clinical Kidney Journal (01.06.2021)
Published in Clinical Kidney Journal (01.06.2021)
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Journal Article
Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders
PILUSO, Giulio, DIONISI, Manuela, CRISCUOLO, Chiara, POLITANO, Luisa, CASALI, Carlo, SANTORELLI, Filippo Maria, NIGRO, Vincenzo, DEL VECCHIO BLANCO, Francesca, TORELLA, Annalaura, AURINO, Stefania, SAVARESE, Marco, GIUGLIANO, Teresa, BERTINI, Enrico, TERRACCIANO, Alessandra, VAINZOF, Mariz
Published in Clinical chemistry (Baltimore, Md.) (01.11.2011)
Published in Clinical chemistry (Baltimore, Md.) (01.11.2011)
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Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas : a possible mechanism for altering the nm23-H1 activity
FORUS, Anne, D'ANGELO, Anna, MÜLLER, Christoph, SANVITO, Francesca, KONONEN, Juha, NESLAND, Jahn M, FODSTAD, Øystein, REYMOND, Alexandre, KALLIONIEMI, Olli-P, ARRIGONI, Gianluigi, BALLABIO, Andrea, MYKLEBOST, Ola, HENRIKSEN, Jørn, ZOLLO, Massimo, MERLA, Giuseppe, MAELANDSMO, Gunhild M, FLØRENES, Vivi Ann, OLIVIERI, Stefano, BJERKEHAGEN, Bodil, MEZA-ZEPEDA, Leonardo A, DEL VECCHIO BLANCO, Francesca
Published in Oncogene (18.10.2001)
Published in Oncogene (18.10.2001)
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Journal Article
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature
Grandone, Anna, Del Vecchio Blanco, Francesca, Torella, Annalaura, Caruso, Manuela, De Luca, Filippo, Di Mase, Raffaella, Messina, Maria Francesca, Salerno, Maria Carolina, Sallemi, Alessia, Perone, Lucia, Marzuillo, Pierluigi, Miraglia Del Giudice, Emanuele, Nigro, Vincenzo, Perrone, Laura
Published in Hormone research in paediatrics (01.01.2016)
Published in Hormone research in paediatrics (01.01.2016)
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Journal Article
Enhancer chip: detecting human copy number variations in regulatory elements
Savarese, Marco, Piluso, Giulio, Orteschi, Daniela, Di Fruscio, Giuseppina, Dionisi, Manuela, Blanco, Francesca del Vecchio, Torella, Annalaura, Giugliano, Teresa, Iacomino, Michele, Zollino, Marcella, Neri, Giovanni, Nigro, Vincenzo
Published in PloS one (20.12.2012)
Published in PloS one (20.12.2012)
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Journal Article
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography
Torella, Annalaura, Trimarco, Amelia, Del Vecchio Blanco, Francesca, Cuomo, Anna, Aurino, Stefania, Piluso, Giulio, Minetti, Carlo, Politano, Luisa, Nigro, Vincenzo
Published in The Journal of molecular diagnostics : JMD (2010)
Published in The Journal of molecular diagnostics : JMD (2010)
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Journal Article
MO045THE APPLICATION OF A NGS KIDNEY PANEL REVEALED KEY CHALLENGES OF PKD1-2 ANALYSIS: INTERPRETATION OF MISSENSE VARIANTS, SIGNIFICANCE OF VARIANTS IN DUPLICATED REGIONS AND HIGH ALLELIC HETEROGENEITY
Blasio, Giancarlo, Zacchia, Miriam, Del Vecchio Blanco, Francesca, Capolongo, Giovanna, Perna, Alessandra, Nigro, Vincenzo, Capasso, Giovambattista
Published in Nephrology, dialysis, transplantation (29.05.2021)
Published in Nephrology, dialysis, transplantation (29.05.2021)
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