BRUNETTI PIERRI, NICOLA
BRUNETTI PIERRI, NICOLA
DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability
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
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.
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
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
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.
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
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
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
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?
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.
2011 BRUNETTI PIERRI, Nicola; Ng, P.
Severe respiratory impairment in a patient affected by spondyloepiphyseal dysplasia congenital.
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?
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.
2006 Lanpher, B; BRUNETTI PIERRI, Nicola; Lee, B.
Progress towards liver and lung-directed gene therapy with helper-dependent adenoviral vectors.
2009 BRUNETTI PIERRI, Nicola; Philip, Ng
Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency?
2007 BRUNETTI PIERRI, Nicola; Hunter, J; Boerkoel, C.
Parkes Weber syndrome occurring in a family with Capillary Malformations
2007 BRUNETTI PIERRI, Nicola; Seidel, Fg; Levy, Ml; Sutton, Vr
Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1.
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.
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.
2005 Franzese, A; BRUNETTI PIERRI, Nicola; Spadaro, R; Mukai, T; Valerio, G.
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. |