IRIS

BRUNETTI PIERRI, NICOLA

BRUNETTI PIERRI, NICOLA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

Mostra records
Risultati 1 - 20 di 295 (tempo di esecuzione: 0.041 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.
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 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
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, Adriana; BRUNETTI PIERRI, Nicola; Spagnuolo, MARIA IMMACOLATA; Spadaro, R; Giugliano, M; Mukai, T; Valerio, 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
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation 1.1 Articolo in rivista 2011 Cozzolino, M; Augello, B; Carella, M; Palumbo, O; Tavazzi, B; Amorini, Am; Lazzarino, G; Merla, G; BRUNETTI PIERRI, Nicola
Cystic fibrosis: a disorder with defective autophagy 1.1 Articolo in rivista 2011 Luciani, A; Villella, Vr; Esposito, S; BRUNETTI PIERRI, Nicola; Medina, Dl; Settembre, Carmine; Gavina, M; Raia, Valeria; Ballabio, Andrea; Maiuri, L.
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? 1.1 Articolo in rivista 2011 BRUNETTI PIERRI, Nicola; Piccolo, P; Morava, E; Wevers, Ra; Mcguirk, M; Johnson, Yr; Urban, Z; Dishop, Mk; Potocki, L.
Helper-dependent adenoviral vectors for liver-directed gene therapy. 1.1 Articolo in rivista 2011 BRUNETTI PIERRI, Nicola; Ng, P.
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.
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.
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
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.
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.