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BRUNETTI PIERRI, NICOLA

BRUNETTI PIERRI, NICOLA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Risultati 1 - 20 di 306 (tempo di esecuzione: 0.024 secondi).
Titolo Tipologia Data di pubblicazione Autore(i) File
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
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.
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.
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
Inborn errors of metabolism: the flux from Mendelian to complex diseases. 1.1 Articolo in rivista 2006 Lanpher, B; 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
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
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
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.
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.
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.
Progressive Myopathy with Multiple Symmetric Lipomatosis. 1.1 Articolo in rivista 2009 BRUNETTI PIERRI, Nicola; Shaibani, A; Zhang, S; Wong, L; Shinawi, M.
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. 1.1 Articolo in rivista 2004 Scaglia, F; BRUNETTI PIERRI, Nicola; Kleppe, S; Marini, J; Carter, S; Garlick, P; Jahoor, F; O'Brien, W; Lee, B.
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.
Two familial cases of high blood galactose of unknown aetiology. 1.1 Articolo in rivista 2006 BRUNETTI PIERRI, Nicola; Opekun, R; Craigen, W. J.
Toll-like Receptor 9 Triggers an Innate Immune Response to Helper-dependent Adenoviral Vectors. 1.1 Articolo in rivista 2007 Cerullo, V; Seiler, Mp; Mane, V; BRUNETTI PIERRI, Nicola; Clarke, C; Bertin, Tk; Rodgers, Jr; Lee, B.
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. 1.1 Articolo in rivista 2007 Berg, J; BRUNETTI PIERRI, Nicola; Peters, S; Kang, S; Fong, C; Salamone, J; Freedenberg, D; Hannig, V; Prock, L; Miller, D; Raffalli, P; Harris, D; Erickson, R; Cunniff, C; Clark, G; Blazo, M; Peiffer, D; Gunderson, K; Sahoo, T; Patel, A; Lupski, J; Beaudet, A; Cheung, S.
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.