IRIS

BRUNETTI PIERRI, NICOLA

BRUNETTI PIERRI, NICOLA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Risultati 1 - 20 di 285 (tempo di esecuzione: 0.014 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.
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, G; Parenti, Giancarlo
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.
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.
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.
Progressive Myopathy with Multiple Symmetric Lipomatosis. 1.1 Articolo in rivista 2009 BRUNETTI PIERRI, Nicola; Shaibani, A; Zhang, S; Wong, L; Shinawi, M.
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations 1.1 Articolo in rivista 2008 Wong, L. J.; Naviaux, Rk; BRUNETTI PIERRI, Nicola; Zhang, Q; Schmitt, Es; Truong, C; Milone, M; Cohen, Bh; Wical, B; Ganesh, J; Basinger, Aa; Burton, Bk; Swoboda, K; Gilbert, Dl; Vanderver, A; Saneto, Rp; Maranda, B; Arnold, G; Abdenur, Je; Waters, Pj; Copeland, W. C.
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition 1.1 Articolo in rivista 2010 Luciani, A; Villella, Vr; Esposito, S; BRUNETTI PIERRI, Nicola; Medina, D; Settembre, Carmine; Gavina, M; Pulze, L; Giardino, I; Pettoello Mantovani, M; D'Apolito, M; Guido, Stefano; Masliah, E; Spencer, B; Quaratino, S; Raia, Valeria; Ballabio, Andrea; Maiuri, L.
Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene. 1.1 Articolo in rivista 2005 Franzese, A; BRUNETTI PIERRI, Nicola; Spadaro, R; Mukai, T; Valerio, G.
von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development. 1.1 Articolo in rivista 2004 BRUNETTI PIERRI, Nicola; Mendoza Londono, R; Shah, Mr; Karaviti, L; Lee, B.
Mutations in the MPV17 Gene are Responsible for Rapidly Progressive Liver Failure in Infancy. 1.1 Articolo in rivista 2007 Wong, L. J.; BRUNETTI PIERRI, Nicola; Zhang, Q; Yazigi, N; Bove, Ke; Dahms, Bb; Puchowicz, Ma; Gonzalez Gomez, I; Schmitt, Es; Truong, Ck; Hoppel, Cl; Chou, P. C.; Wang, J; Baldwin, Ee; Adams, D; Leslie, N; Boles, Rg; Kerr, Ds; Craigen, W. J.
Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1. 1.1 Articolo in rivista 2005 Titomanlio, L; BRUNETTI PIERRI, Nicola; Romano, A; Imperati, F; Borrelli, M; Barletta, V; Alvaro, Ad; Castaldo, I; Santoro, L; DEL GIUDICE, Ennio
Improved Hepatic Transduction, Reduced Systemic Vector Dissemination and Long-Term Transgene Expression by Delivering Helper-Dependent Adenoviral Vectors into the Surgically Isolated Liver of Nonhuman Primates. 1.1 Articolo in rivista 2006 BRUNETTI PIERRI, Nicola; Ng, T; Iannitti, Da; Palmer, Dj; Beaudet, Al; Finegold, Mj; Dee, C; Cioffi, W; Ng, P.
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. 1.1 Articolo in rivista 2003 Shaw, Ma; BRUNETTI PIERRI, Nicola; Kadasi, L; Kovacova, V; Van Maldergem, L; De Brasi, D; Salerno, M; Geez, J.
Gene therapy for inborn errors of liver metabolism. 1.1 Articolo in rivista 2005 BRUNETTI PIERRI, Nicola; Lee, B.
Progress towards liver and lung-directed gene therapy with helper-dependent adenoviral vectors. 1.1 Articolo in rivista 2009 BRUNETTI PIERRI, Nicola; Philip, Ng