BRUNETTI PIERRI, NICOLA

BRUNETTI PIERRI, NICOLA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Titolo Tipologia Data di pubblicazione Autore(i) File
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.
Lathosterolosis, a novel multiple congenital malformation/mental retardation syndrome due to the deficiency of 3 b-hydroxysteroid--D5-desaturase (SCD). 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. AND 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, M. V.; Tuzzi, R; Vega, G. R.; Gray, G; Mckeown, C; Ballabio, Andrea; Andria, G; Meroni, G. AND PARENTI 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
Molecular characterization of patients with chondrodysplasia punctata 1.1 Articolo in rivista 2000 BRUNETTI PIERRI, Nicola; Meroni, G; Tuzzi, Mr; Andreucci, Mv; Ballabio, Andrea; Andria, Generoso; Parenti, G.
Lathosterolosis, a novel multiple malformation/mental retardation syndrome due to deficiency 3beta-hydroxysteroid-delta5-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, Antonio; Andria, G; Parenti, 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
Increased Hepatic Transduction and Reduced Systemic Dissemination and Proinflammatory Cytokines Following Hydrodynamic Injection of Helper-Dependent Adenoviral Vectors. 1.1 Articolo in rivista 2005 BRUNETTI PIERRI, Nicola; Palmer, Dj; Mane, V; Finegold, M; Beaudet, Al; 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.
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.
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.
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
Severe respiratory impairment in a patient affected by spondyloepiphyseal dysplasia congenital. 1.1 Articolo in rivista 2007 De Brasi, D; BRUNETTI PIERRI, Nicola; Giordano, L; Scala, Mg; Santamaria, Francesca; Andria, G.
Progress toward clinical applications of helper-dependent adenoviral vectors for liver and lung gene therapy. 1.1 Articolo in rivista 2006 BRUNETTI PIERRI, Nicola; Ng, P.
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.
Long-term Phenotypic Correction of Canine Hemophilia B Following Systemic Administration of Helper Dependent Adenoviral Vector. 1.1 Articolo in rivista 2005 BRUNETTI PIERRI, Nicola; Nichols, Tc; Dillow, A; Merricks, E; Palmer, Dj; Beaudet, Al; Ng, P.
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.