BRUNETTI PIERRI, NICOLA

BRUNETTI PIERRI, NICOLA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Titolo Tipologia Data di pubblicazione Autore(i) File
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.
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.
Parkes Weber syndrome occurring in a family with Capillary Malformations 1.1 Articolo in rivista 2007 BRUNETTI PIERRI, Nicola; Seidel, Fg; Levy, Ml; Sutton, Vr
Inborn errors of metabolism: the flux from Mendelian to complex diseases. 1.1 Articolo in rivista 2006 Lanpher, B; BRUNETTI PIERRI, Nicola; Lee, B.
Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency? 1.1 Articolo in rivista 2009 BRUNETTI PIERRI, Nicola; Erez, A; Shchelochkov, O; Craigen, W; 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
Sensory Ataxic Neuropathy with Ophthalmoparesis Caused by POLG Mutations. 1.1 Articolo in rivista 2008 Milone, M; BRUNETTI PIERRI, Nicola; Tang, L. T.; Kumar, N; Mezei, Mm; Josephs, K; Powell, S; Simpson, E; Wong, L. J.