NIGRO, Vincenzo

NIGRO, Vincenzo  

Dipartimento di Medicina di Precisione  

Mostra records
Risultati 1 - 20 di 357 (tempo di esecuzione: 0.032 secondi).
Titolo Data di pubblicazione Autore(i) File
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 1-gen-2018 Alagia, Marianna; Cappuccio, Gerarda; Pinelli, Michele; Torella, Annalaura; Brunetti-Pierri, Raffaella; Simonelli, Francesca; Limongelli, Giuseppe; Oppido, Guido; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Brunetti Pierri, Raffaella
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 1-gen-2014 Vieira, Nm; Naslavsky, Ms; Licinio, L; Kok, F; Schlesinger, D; Vainzof, M; Sanchez, N; Kitajima, Jp; Gal, L; Cavaçana, N; Serafini, Pr; Chuartzman, S; Vasquez, C; Mimbacas, A; Nigro, Vincenzo; Pavanello, Rc; Schuldiner, M; Kunkel, Lm; Zatz, M.
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies 1-gen-1998 Moreira, Es; Vainzof, M; Marie, Sk; Nigro, Vincenzo; Zatz, M; PASSOS BUENO, Mr
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 1-gen-2014 Villa, F; Maciąg, A; Spinelli, Cc; Ferrario, A; Carrizzo, A; Parisi, A; Torella, A; Montenero, C; Condorelli, G; Vecchione, C; Nigro, Vincenzo; Montenero, As; Puca, A. A.
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F 1-gen-2000 Dincer, P; Bonnemann, Cg; ERDIR AKER, O; Akcoren, Z; Nigro, Vincenzo; Kunkel, Lm; Topalolu, H.
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. 1-gen-2009 Piluso, Giulio; D'Amico, F.; Saccone, V.; Bismuto, E.; Rotundo, I. L.; DI DOMENICO, Marina; Aurino, S.; Schwartz, C. E.; Neri, G.; Nigro, Vincenzo
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 1-gen-2021 de Boer, E.; Ockeloen, C. W.; Matalonga, L.; Horvath, R.; Rodenburg, R. J.; Coenen, M. J. H.; Janssen, M.; Henssen, D.; Gilissen, C.; Steyaert, W.; Paramonov, I.; Trimouille, A.; Kleefstra, T.; Verloes, A.; Vissers, L. E. L. M.; Nigro, V.; Torella, A.; Banfi, S.
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature 1-gen-2018 Brusa, Roberta; Magri, Francesca; Papadimitriou, Dimitra; Govoni, Alessandra; Del Bo, Roberto; Ciscato, Patrizia; Savarese, Marco; Cinnante, Claudia; Walter, Maggie C.; Abicht, Angela; Bulst, Stefanie; Corti, Stefania; Moggio, Maurizio; Bresolin, Nereo; Nigro, Vincenzo; Comi, Giacomo Pietro
A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein 1-gen-2007 Gouveia, Tl; Kossugue, Pm; Paim, Jf; Zatz, M; Anderson, Lv; Nigro, Vincenzo; Vainzof, M.
A new family with transportinopathy: increased clinical heterogeneity 1-gen-2019 Angelini, C.; Marozzo, R.; Pinzan, E.; Pegoraro, V.; Molnar, M. J.; Torella, A.; Nigro, V.
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A 1-gen-2023 Torella, Annalaura; Ricca, Ivana; Piluso, Giulio; Galatolo, Daniele; De Michele, Giuseppe; Zanobio, Mariateresa; Trovato, Rosanna; De Michele, Giovanna; Zeuli, Roberta; Pane, Chiara; Cocozza, Sirio; Saccà, Francesco; Santorelli, Filippo M; Nigro, Vincenzo; Filla, Alessandro
A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy 1-gen-2006 Santoro, L; Manganelli, F; Lanzillo, R; Tessa, A; Barbieri, F; Pierelli, F; DI GIACINTO, G; Nigro, Vincenzo; Santorelli, Fm
A novel homozygous beta-sarcoglycan gene mutation: case description. 1-gen-2012 Ricci, G; Simoncini, C; Volpi, L; Logerfo, A; Servadio, A; Dell’Osso, G; Politano, Luisa; Nigro, Vincenzo; Siciliano, G.
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect 1-gen-2023 Fontana, Paolo; Budillon, Alberto; Simeone, Domenico; Del Vecchio Blanco, Francesca; Caiazza, Martina; D'Amico, Alessandra; Lonardo, Fortunato; Nigro, Vincenzo; Limongelli, Giuseppe; Scarano, Gioacchino
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome 1-gen-2023 Onore, Maria Elena; Caiazza, Martina; Farina, Antonella; Scarano, Gioacchino; Budillon, Alberto; Borrelli, Rossella Nicoletta; Limongelli, Giuseppe; Nigro, Vincenzo; Piluso, Giulio
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy 1-gen-2023 Guglielmi, Valeria; Pancheri, Elia; Cannone, Elena; Nigro, Vincenzo; Malatesta, Manuela; Vettori, Andrea; Giorgetti, Alejandro; Torella, Annalaura; Aurino, Stefania; Cisterna, Barbara; Marchetto, Giulia; Tomelleri, Giuliano; Tonin, Paola; Schiavone, Marco; Vattemi, Gaetano
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 1-gen-2021 Santoro, Claudia; Riccio, Simona; Palladino, Federica; Aliberti, Ferdinando; Carotenuto, Marco; Zanobio, Mariateresa; Peduto, Cristina; Nigro, Vincenzo; Perrotta, Silverio; Piluso, Giulio
A novel p53 mutant in human breast cancer revealed by multiple SSCP analysis 1-gen-1994 Nigro, Vincenzo; Napolitano, M; Abbondanza, Ciro; Medici, Nicola; Puca, Aa; Schiavulli, M; Armetta, I; Moncharmont, B; Puca, Ga; Molinari, Anna Maria
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 1-gen-2020 Santoro, Claudia; Giugliano, Teresa; Bernardo, Pia; Palladino, Federica; Torella, Annalaura; del Vecchio Blanco, Francesca; Onore, Maria Elena; Carotenuto, Marco; Nigro, Vincenzo; Piluso, Giulio
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 1-gen-2022 Riva, Antonella; Nobile, Giulia; Giacomini, Thea; Ognibene, Marzia; Scala, Marcello; Balagura, Ganna; Madia, Francesca; Accogli, Andrea; Romano, Ferruccio; Tortora, Domenico; Severino, Mariasavina; Scudieri, Paolo; Baldassari, Simona; Musante, Ilaria; Uva, Paolo; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Capra, Valeria; Nobili, Lino; Striano, Pasquale; Mancardi, Maria Margherita; Zara, Federico; Iacomino, Michele