BRUNETTI PIERRI, NICOLA

BRUNETTI PIERRI, NICOLA  

Dipartimento di Scienze mediche traslazionali  

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Titolo Tipologia Data di pubblicazione Autore(i) File
15q13q14 Deletions: Phenotypic Characterization and Molecular Delineation by Comparative Genomic Hybridization. 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola; Trilochan, S; Frioux, S; Chinault, C; Zascavage, R; Cheung, Sw; Peters, S; Shinawi, M.
30-year follow-up of a patient with classic citrullinemia. 1.1 Articolo in rivista 2012 BRUNETTI PIERRI, Nicola; Lamance, Km; Lewis, Ra; Craigen, W. J.
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. 1.1 Articolo in rivista 2014 Terrone, Gaetano; Cappuccio, G; Genesio, R; Esposito, A; Fiorentino, V; Riccitelli, M; Nitsch, Lucio; BRUNETTI PIERRI, Nicola; DEL GIUDICE, Ennio
A new case of bilateral upper limb amelia, facial clefts, and renal hypoplasia. 1.1 Articolo in rivista 2000 BRUNETTI PIERRI, Nicola; Lecora, M; Passariello, A; Scala, I; Andria, G.
A new patient with Lowry-Wood syndrome with mild phenotype 1.1 Articolo in rivista 2003 BRUNETTI PIERRI, Nicola; De Brasi, D; Ikegawa, S; Camera, G; Andria, G; Sebastio, G.
A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency. 1.1 Articolo in rivista 2009 Nuzzo, V; Tauchmanova, L; Brunetti Pierri, R; Zuccoli, A; Lupoli, Giovanni; Colao, Annamaria; BRUNETTI PIERRI, Nicola
A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency. 1.1 Articolo in rivista 2009 Nuzzo, V; Tauchmanova, L; Brunetti Pierri, R; Zuccoli, A; Lupoli, Giovanni; Colao, A; BRUNETTI PIERRI, Nicola
A severe case of Dentatorubropallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement. 1.1 Articolo in rivista 2006 BRUNETTI PIERRI, Nicola; Wilfong, A; Hunter, Jv; Craigen, W. J.
AAV-mediated liver-directed gene therapy for Acute Intermittent Porphyria: It is safe but is it effective? 1.1 Articolo in rivista 2016 BRUNETTI PIERRI, Nicola; Newsome, Philip N.
Activation of JNK pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin 1.1 Articolo in rivista 2017 Pastore, Nunzia; Attanasio, Sergio; Granese, Barbara; Teckman, Jeffrey; Wilson, Andrew A; Ballabio, Andrea; BRUNETTI PIERRI, Nicola
Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors in nonhuman primates. 1.1 Articolo in rivista 2004 BRUNETTI PIERRI, Nicola; Palmer, Dj; Beaudet, Al; Carey, Kd; Finegold, M; Ng, P.
Alpha-1 antitrypsin deficiency: a re-surfacing adult liver disorder 1.1 Articolo in rivista 2021 Fromme, Malin; Schneider, Carolin V; Trautwein, Christian; Brunetti-Pierri, Nicola; Strnad, Pavel
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 1.1 Articolo in rivista 2020 Bedoni, N.; Quinodoz, M.; Pinelli, M.; Cappuccio, G.; Torella, A.; Nigro, V.; Testa, F.; Simonelli, F.; Corton, M.; Lualdi, S.; Lanza, F.; Morana, G.; Ayuso, C.; Di Rocco, M.; Filocamo, M.; Banfi, S.; Brunetti-Pierri, Nicola; Superti-Furga, A.; Rivolta, C.
Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia 1.1 Articolo in rivista 2019 Soria, Leandro R; Brunetti-Pierri, Nicola
An extremely severe phenotype attributed to WDR81 nonsense mutations 1.1 Articolo in rivista 2017 Cappuccio, Gerarda; Pinelli, Michele; Torella, Annalaura; Vitiello, Giuseppina; D'Amico, Alessandra; Alagia, Marianna; DEL GIUDICE, Ennio; Nigro, Vincenzo; BRUNETTI PIERRI, Nicola
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 1.1 Articolo in rivista 2019 Cappuccio, Gerarda; Torella, Annalaura; Mastrangelo, Mario; Carducci, Claudia; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Leuzzi, Vincenzo
Are SHROOM4 loss-of-function variants pathogenic? 1.1 Articolo in rivista 2022 Peduto, Cristina; Piluso, Giulio; Nigro, Vincenzo; Brunetti-Pierri, Nicola
Assessment of bone mineral status in children with Marfan syndrome 1.1 Articolo in rivista 2012 Grover, M; BRUNETTI PIERRI, Nicola; Belmont, J; Phan, K; Tran, A; Shypailo, Rj; Ellis, Kj; Lee, Bh
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy 1.1 Articolo in rivista 2022 Mattison, Kari A; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; Mccann, Emma; Burghel, George J; Menendez, Beatriz; Hoganson, George E; Botto, Lorenzo D; Filloux, Francis M; Aledo-Serrano, Ángel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjørg; Møller, Rikke S; Whitney, Andrea; Douglas, Andrew G L; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J; Tao, James X; Argili, Emanuela; Sherr, Elliot H; Dobyns, William B; Consortium, Genomics England Research; Baines, Richard A; Warwicker, Jim; Parker, J Alex; Banka, Siddharth; Campeau, Philippe M; Escayg, Andrew
Autophagy master regulator TFEB induces clearance of toxic SERPINA1/?-1-antitrypsin polymers. 1.1 Articolo in rivista 2013 Pastore, N; Ballabio, Andrea; BRUNETTI PIERRI, Nicola