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BRUNETTI PIERRI, NICOLA

BRUNETTI PIERRI, NICOLA  

Dipartimento di Scienze mediche traslazionali  

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Titolo Tipologia Data di pubblicazione Autore(i) File
Discovery of drug mode of action and drug repositioning from transcriptional responses 1.1 Articolo in rivista 2010 Iorio, F; Bosotti, R; Scacheri, E; Belcastro, V; Mithbaokar, P; Ferriero, R; Murino, L; Tagliaferri, R; BRUNETTI PIERRI, Nicola; Isacchi, A; DI BERNARDO, Diego
Progress & Prospects: Gene therapy for genetic diseases with helper-dependent adenoviral vectors 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola; Ng, P.
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.
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
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.
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to two novel mutations in the ALOX12B gene. 1.1 Articolo in rivista 2008 Harting, M; BRUNETTI PIERRI, Nicola; Chan, Sc; Kirby, J; Dishop, Mk; Richard, G; Scaglia, F; Yan, Ac; Levy, M. L.
X-Linked Recessive Chondrodysplasia Punctata: Spectrum of Arylsulfatase E Gene Mutations and Expanded Clinical Variability 1.1 Articolo in rivista 2003 BRUNETTI PIERRI, Nicola; ANDREUCCI M., V; Tuzzi, R; VEGA G., R; Gray, G; Mckeown, C; Ballabio, Andrea; Andria, G; Meroni, G. AND PARENTI G.
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene 1.1 Articolo in rivista 1997 G., Parenti; P., Buttitta; G., Meroni; Franco, Brunella; L., Bernard; Mg, Rizzolo; BRUNETTI PIERRI, Nicola; Ballabio, Andrea; G. A. N. D. R. I., A.
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 1.1 Articolo in rivista 2003 BRUNETTI PIERRI, Nicola; Andreucci, M. V.; Tuzzi, R.; Vega, G. R.; Gray, G.; Mckeown, C; Ballabio, Andrea; Andria, Generoso; Meroni, G.; Parenti, G.
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 1.1 Articolo in rivista 2003 BRUNETTI PIERRI, Nicola; Andreucci, Mv; Tuzzi, R; Vega, Gr; Gray, G; Mckeown, C; Ballabio, Andrea; Andria, G; Meroni, G; 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
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.
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.
New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen-Lubinski syndrome? 1.1 Articolo in rivista 2003 De Brasi, D; BRUNETTI PIERRI, Nicola; Di Micco, P; Andria, G; Sebastio, 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.
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.
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
Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency? 1.1 Articolo in rivista 2007 BRUNETTI PIERRI, Nicola; Hunter, J; Boerkoel, C.
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.
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.