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BRUNETTI PIERRI, NICOLA

BRUNETTI PIERRI, NICOLA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Risultati 1 - 20 di 283 (tempo di esecuzione: 0.008 secondi).
Titolo Tipologia Data di pubblicazione Autore(i) File
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. 1.1 Articolo in rivista 2010 BRUNETTI PIERRI, Nicola; Lachman, R; Lee, K; Leal, Sm; Piccolo, P; Van Den Veyver, Ib; Bacino, Ca
Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad. 1.1 Articolo in rivista 2010 Vetrini, F; BRUNETTI PIERRI, Nicola; Palmer, Dj; Bertin, T; Grove, Nc; Finegold, Mj; Ng, P.
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. 1.1 Articolo in rivista 2014 BRUNETTI PIERRI, Nicola; Torrado, M; Fernandez Mdel, C; Tello, Am; Arberas, Cl; Cardinale, A; Piccolo, P; Bacino, Ca
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation 1.1 Articolo in rivista 2011 Cozzolino, M; Augello, B; Carella, M; Palumbo, O; Tavazzi, B; Amorini, Am; Lazzarino, G; Merla, G; BRUNETTI PIERRI, Nicola
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. 1.1 Articolo in rivista 2007 Lonardo, F; Parenti, Giancarlo; Luquetti, Dv; Annunziata, I; DELLA MONICA, M; Perone, L; De, ; Gregori, M; Zuffardi, O; BRUNETTI PIERRI, Nicola; Andria, Generoso; Scarano, G.
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 1.1 Articolo in rivista 2002 BRUNETTI PIERRI, Nicola; Corso, G; Rossi, M; Ferrari, P; Balli, F; Rivasi, F; Annunziata, I; Ballabio, Andrea; DELLO RUSSO, A; Andria, Generoso; Parenti, Giancarlo
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 1.1 Articolo in rivista 2002 BRUNETTI PIERRI, Nicola; Corso, G; Rossi, M; Ferrari, P; Balli, F; Rivasi, F; Annunziata, I; Ballabio, Andrea; DELLO RUSSO, A; Andria, G; Parenti, Giancarlo
Lathosterolosis, a novel defect of cholesterol biosynthesis in humans associated with multiple congenital malformations and mental retardation. 1.5 Abstract in rivista 2002 BRUNETTI PIERRI, Nicola; Corso, G; Rossi, M; Annunziata, I; Battagliese, A; Ballabio, Andrea; DELLO RUSSO, Antonio; Andria, G; Parenti, G.
Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primates. 1.1 Articolo in rivista 2009 BRUNETTI PIERRI, Nicola; Stapleton, Ge; Law, M; Breinholt, J; Palmer, Dj; Zuo, Y; Grove, Nc; Finegold, Mj; Rice, K; Beaudet, Al; Mullins, Ce; Ng, P.
WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype. 1.1 Articolo in rivista 2012 Bacino, Ca; Dhar, Su; BRUNETTI PIERRI, Nicola; Lee, B; Bonnen, P. E.
Cystic fibrosis: A disorder with defective autophagy 1.1 Articolo in rivista 2010 Luciani, A; Villella, Vr; Esposito, S; BRUNETTI PIERRI, Nicola; Medina, Dl; Settembre, Carmine; Gavina, M; Raia, Valeria; Ballabio, Andrea; Maiuri, L.
Esclusione dei geni candidati zic-1 ed en-2 nella ipoplasia del verme cerebellare autosomica dominante 8.02 Comunicazioni a Convegni o Seminari 2004 Iuliano, R; BRUNETTI PIERRI, Nicola; Titomanlio, L; Romano, A; Barletta, V; Borrelli, M; Imperati, F; Sellitto, G; DEL GIUDICE, Ennio
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review 1.1 Articolo in rivista 2005 Rossi, Massimiliano; Vajro, Pietro; Iorio, Raffaele; Battagliese, Antonella; BRUNETTI PIERRI, Nicola; Corso, Gaetano; Di, ; Rocco, M; Ferrari, P; Rivasi, F; Vecchione, Raffaela; Andria, Generoso; Parenti, Giancarlo
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
Gene therapy for inborn errors of liver metabolism: progress towards clinical applications. 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola
Short-Term Correction of Arginase Deficiency in a Neonatal Murine Model with a Helper-Dependent Adenoviral Vector. 1.1 Articolo in rivista 2009 Gau, C. L.; Rosenblatt, Ra; Cerullo, V; Lay, Fd; Dow, Ac; Livesay, J; BRUNETTI PIERRI, Nicola; Lee, B; Cederbaum, S; Grody, W; Lipshutz, G. S.
De Novo Terminal 22q12.3q13.3 Duplication with Pituitary Hypoplasia. 1.1 Articolo in rivista 2009 BRUNETTI PIERRI, Nicola; Patel, A; Brown, Cw; Rauch, Ra; Heptulla, R. A.
Brain Proton Magnetic Resonance Spectroscopy and Neuromuscular Pathology in a Patient with GM1 Gangliosidosis 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola; Bhattacharjee, Mb; Wang, Zj; Chu, Z; Da, Wenger; Potocki, L; Hunter, Jv; Scaglia, F.
Recurrent reciprocal 1q21.1 deletions and duplications are novel genomic disorders associated with micro- or macrocephaly and a spectrum of developmental and behavioral abnormalities. 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola; Berg, Js; Scaglia, F; Belmont, J; Bacino, Ca; Sahoo, T; Lalani, Sr; Graham, H; Lee, B; Shinawi, M; Shen, J; Kang S., Hl; Pursley, A; Lotze, T; Kennedy, G; Lansky Shafer, S; Weaver, C; Roeder, Er; Grebe, Ta; Arnold, Gl; Hutchison, T; Reimschisel, T; Amato, S; Geragthy, Mt; Innis, Jw; Obersztyn, E; Nowakowska, B; Rosengren, Ss; Bader, Pi; Grange, Dk; Naqvi, S; Garnica, Ad; Bernes, Sm; Fong, C. T.; Summers, A; Walters, Wd; Lupski, Jr; Stankiewicz, P; Cheung, S. W.; Patel, A.
Generalized Metabolic Bone Disease in Neurofibromatosis Type I. 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola; Doty, Sb; Hicks, J; Phan, K; Mendoza Londono, R; Blazo, M; Tran, A; Carter, S; Lewis, Ra; Plon, Se; Phillips, Wa; Smith, Eo; Ellis, Kj; Lee, B.