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BRUNETTI PIERRI, NICOLA

BRUNETTI PIERRI, NICOLA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Lathosterolemia: a novel defect of cholesterol biosynthesis in humans associated with congenital multiple malformations and mental retardation. 1.5 Abstract in rivista 2002 Parenti, Giancarlo; BRUNETTI PIERRI, Nicola; Corso, G.; Rossi, M.; Annunziata, I.; Battagliese, A.; Ferrari, P.; Ballabio, Andrea; DELLO RUSSO, Antonio; Andria, Generoso
Characterization of de novo microdeletions involving 17q11.2q12 region in two individuals with mental retardation identified through chromosomal comparative genomic hybridization (CGH). 1.1 Articolo in rivista 2007 BRUNETTI PIERRI, Nicola; Grange, Dk; Zhishuo, O; Peiffer, Da; Peacock, Skg; Cooper, Ml; Eng, Pa; Lalani, Sr; Chinault, Ac; Gunderson, Kl; Craigen, Wj; Cheung, S. W.
Recurrent reciprocal 1q21.1 deletions and duplications are novel genomic disorders associated with micro- or macrocephaly and a spectrum of developmental and behavioral abnormalities. 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola; Berg, Js; Scaglia, F; Belmont, J; Bacino, Ca; Sahoo, T; Lalani, Sr; Graham, H; Lee, B; Shinawi, M; Shen, J; Kang S., Hl; Pursley, A; Lotze, T; Kennedy, G; Lansky Shafer, S; Weaver, C; Roeder, Er; Grebe, Ta; Arnold, Gl; Hutchison, T; Reimschisel, T; Amato, S; Geragthy, Mt; Innis, Jw; Obersztyn, E; Nowakowska, B; Rosengren, Ss; Bader, Pi; Grange, Dk; Naqvi, S; Garnica, Ad; Bernes, Sm; Fong, C. T.; Summers, A; Walters, Wd; Lupski, Jr; Stankiewicz, P; Cheung, S. W.; Patel, A.
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.
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.
Inborn error of metabolism 2.1 Contributo in volume (Capitolo o Saggio) 2011 BRUNETTI PIERRI, Nicola; Parenti, Giancarlo; Andria, Generoso
DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution. 1.1 Articolo in rivista 2012 Dumas, Lj; O'Bleness, Ms; Davis, Jm; Dickens, Cm; Anderson, N; Keeney, Jg; Jackson, J; Sikela, M; Raznahan, A; Giedd, J; Rapoport, J; Nagamani, Ss; Erez, A; BRUNETTI PIERRI, Nicola; Sugalski, R; Lupski, Jr; Fingerlin, T; Cheung, Sw; Sikela, J. M.
A new patient with Lowry-Wood syndrome with mild phenotype 1.1 Articolo in rivista 2003 BRUNETTI PIERRI, Nicola; De Brasi, D; Ikegawa, S; Camera, G; Andria, G; Sebastio, G.
Short-Term Correction of Arginase Deficiency in a Neonatal Murine Model with a Helper-Dependent Adenoviral Vector. 1.1 Articolo in rivista 2009 Gau, C. L.; Rosenblatt, Ra; Cerullo, V; Lay, Fd; Dow, Ac; Livesay, J; BRUNETTI PIERRI, Nicola; Lee, B; Cederbaum, S; Grody, W; Lipshutz, G. S.
A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency. 1.1 Articolo in rivista 2009 Nuzzo, V; Tauchmanova, L; Brunetti Pierri, R; Zuccoli, A; Lupoli, Giovanni; Colao, A; BRUNETTI PIERRI, Nicola
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.
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.
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.
Gene therapy for inborn errors of liver metabolism: progress towards clinical applications. 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola
Phenotypic Correction of Ornithine Transcarbamylase Deficiency Using Low Dose Helper Dependent Adenoviral Vectors. 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola; Clarke, C; Mane, V; Palmer, Dj; Lanpher, B; Sun, Q; O’Brien, W. Lee B.
Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors in nonhuman primates. 1.1 Articolo in rivista 2004 BRUNETTI PIERRI, Nicola; Palmer, Dj; Beaudet, Al; Carey, Kd; Finegold, M; Ng, P.
A severe case of Dentatorubropallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement. 1.1 Articolo in rivista 2006 BRUNETTI PIERRI, Nicola; Wilfong, A; Hunter, Jv; Craigen, W. J.
Pseudo-Hydrodynamic Delivery of Helper-Dependent Adenoviral Vectors into Nonhuman Primates. 1.1 Articolo in rivista 2007 BRUNETTI PIERRI, Nicola; Stapleton, Ge; Palmer, Dj; Zuo, Y; Mane, Vp; Finegold, Mj; Beaudet, Al; Leland, Mm; Mullins, Ce; Ng, P.
A new case of bilateral upper limb amelia, facial clefts, and renal hypoplasia. 1.1 Articolo in rivista 2000 BRUNETTI PIERRI, Nicola; Lecora, M; Passariello, A; Scala, I; Andria, G.
GM1 gangliosidosis: a review of clinical, molecular, and therapeutic aspects. 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola; Scaglia, F.