Sfoglia per Autore
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
2009-01-01 Callewaert, Bl; Loeys, Bl; Ficcadenti, A; Gabrielli, Orazio
Effect of coenzyme Q (10) in mitigating oxidative DNA damage in Down syndrome patients, a double blind randomised controlled trial.
2009-01-01 Tiano, L.; Carnevali, P.; Padella, L.; Santoro, L.; Principi, F.; Brugè, F.; Carle, F.; Gesuita, Rosaria; Gabrielli, Orazio; Littarru, GIAN PAOLO
Rapid Genetic Analysis, Imaging with 18F-DOPA-PET/CT Scan and Laparoscopic Surgery in Congenital Hyperinsulinism.
2010-01-01 Cherubini, V.; Bagalini, Ls; Ianilli, A.; Marigliano, Marco; Biagioni, M.; Carnielli, Virgilio; Iasonni, V.; Berbellini, A.; Hussain, K.; Gabrielli, Orazio
Short and reliable method for mucopolysaccharidoses diagnosis
2010-01-01 Galeazzi, Tiziana; Zampini, Lucia; Padella, L; Santoro, L; Coppa, Gv; Gabrielli, Orazio
Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up.
2010-01-01 Gabrielli, Orazio; Clarke, L. A.; Bruni, Stefano; Coppa, Giovanni Valentino
Stickler sindrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
2010-01-01 Hoornaert, Kp; Vereecke, I; Dewinter, C; Rosenberg, T; Beemer, Fa; Leroy, Jg; Bendix, L; Björck, E; Bonduelle, M; Boute, O; Cormier Daire, V; De Die Smulders, C; Dieux Coeslier, A; Dollfus, H; Elting, M; Green, A; Guerci, Vi; Hennekam, Rc; Hilhorts Hofstee, Y; Holder, M; Hoyng, C; Jones, Kj; Josifova, D; Kaitila, I; Kjaergaard, S; Kroes, Yh; Lagerstedt, K; Lees, M; Lemerrer, M; Magnani, C; Marcelis, C; Martorell, L; Mathieu, M; Mcentagart, M; Mendicino, A; Morton, J; Gabrielli, Orazio; Paquis, V; Reish, O; Simola, Ko; Smithson, Sf; Temple, Ki; Van Aken, E; Van Bever, Y; van den Ende, J; Van Hagen, Jm; Zelante, L; Zordania, R; De Paepe, A; Leroy, Bp; De Buyzere, M; Coucke, Pj; Mortier, G. R.
Effect of 6 years enzyme replacement therapy on plasma and urine glycosaminoglycans in attenuated MPS I patients
2010-01-01 Coppa, G. V.; Buzzega, D.; Zampini, Lucia; Maccari, F.; Galeazzi, Tiziana; Pederzoli, F.; Gabrielli, Orazio; Volpi, N.
High-throughput determination of urinary hexosamines for diagnosis of mucopolysaccharidoses by capillary electrophoresis and high-performance liquid chromatography.
2011-01-01 Coppa, Giovanni Valentino; Galeotti, F; Zampini, Lucia; Maccari, F; Galeazzi, Tiziana; Padelia, L; Santoro, L; Gabrielli, Orazio; Volpi, N.
Preterm milk oligosaccharides during the first month of lactation
2011-01-01 Gabrielli, Orazio; Zampini, Lucia; Galeazzi, Tiziana; Padella, L.; Santoro, Lucia; Peila, C.; Giuliani, F.; Bertino, E.; Fabris, C.; Coppa, G. V.
Oligosaccharides in 4 Different Milk Groups, Bifidobacteria, and Ruminococcus obeum.
2011-01-01 Coppa, Giovanni Valentino; Gabrielli, Orazio; Zampini, Lucia; Galeazzi, Tiziana; Ficcadenti, A; Padella, Lucia; Santoro, Lucia; Soldi, S; Carlucci, A; Bertino, E; Morelli, L.
Effect of Coenzyme Q(10) in mitigating oxidative DNA damage in Down syndrome patients, a double blind randomized controlled trial.
2011-01-01 Tiano, Luca; Carnevali, P; Padella, L; Santoro, Lucia; Principi, F; Brugè, F; Carle, Flavia; Gesuita, Rosaria; Gabrielli, Orazio; Littarru, GIAN PAOLO
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
2011-01-01 Lepri, F; De Luca, A; Stella, L; Rossi, C; Baldassarre, G; Pantaleoni, F; Cordeddu, V; Williams, Bj; Dentici, Ml; Caputo, V; Venanzi, S; Bonaguro, M; Kavamura, I; Faienza, Mf; Pilotta, A; Stanzial, F; Faravelli, F; Gabrielli, Orazio; Marino, B; Neri, G; Silengo, Mc; Ferrero, Gb; Torrrente, I; Selicorni, A; Mazzanti, L; Digilio, Mc; Zampino, G; Dallapiccola, B; Gelb, Bd; Tartaglia, M.
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
2011-01-01 Bertola, F; Filocamo, M; Casati, G; Mort, M; Rosano, C; Tylki Szymanska, A; Tüysüz, B; Gabrielli, Orazio; Grossi, S; Scarpa, M; Parenti, G; Antuzzi, D; Dalmau, J; Rocco, Md; Vici, Cd; Okur, I; Rosell, J; Rovelli, A; Furlan, F; Rigoldi, M; Biondi, A; Cooper, Dn; Parini, R.
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients
2011-01-01 Micale, L.; Augello, B.; Fusco, C.; Selicorni, A.; Loviglio, M. N.; Silengo, M. C.; Reymond, A.; Gumiero, B.; Gabrielli, Orazio; Zucchetti, F.; D'Addetta, E. V.; Belligni, E.; Calcagnì, A.; Digilio, M. C.; Dallapiccola, B.; Faravelli, F.; Forzano, F.; Accadia, M.; Bonfante, A.; Clementi, M.; Daolio, C.; Douzgou, S.; Ferrari, P.; Fischetto, R.; Garavelli, L.; Lapi, E.; Mattina, T.; Melis, D.; Patricelli, M. G.; Priolo, M.; Prontera, P.; Renieri, A.; Mencarelli, M. A.; Scarano, G.; della Monica, M.; Toschi, B.; Turolla, L.; Vancini, A.; Zatterale, A.; ., ; Zelante, L.; Merla, G.
Alterations of platelet biochemical and functional properties in newly diagnosed type 1 diabetes: a role in cardiovascular risk?
2011-01-01 Vignini, Arianna; Moroni, C; Nanetti, Laura; Raffaelli, Francesca; Cester, A; Gabrielli, Orazio; Cherubini, V; Mazzanti, Laura
Composition and structure elucidation of human milk glycosaminoglycans.
2011-01-01 Coppa, Giovanni Valentino; Gabrielli, Orazio; Buzzega, D; Zampini, Lucia; Galeazzi, Tiziana; Maccari, F; Bertino, E; Volpi, N.
Glycosaminoglycan content in term and preterm milk during the first month of lactation
2012-01-01 Coppa, G. V.; Gabrielli, Orazio; Zampini, Lucia; Galeazzi, Tiziana; Maccari, F.; Buzzega, D.; Galeotti, F.; Bertino, E.; Volpi, N.
Prolonged coenzyme Q10 treatment in Down syndrome patients: effect on DNA damage
2012-01-01 Tiano, Luca; Padella, L; Santoro, L; Carnevali, P; Principi, F; Brugè, F; Gabrielli, Orazio; Littarru, Gp
On-line high-performance liquid chromatography-fluorescence detection-electrospray ionization-mass spectrometry profiling of human milk oligosaccharides dervatized with 2-aminoacridone
2012-01-01 Galeotti, F.; Coppa, Giovanni Valentino; Zampini, Lucia; Maccari, F.; Galeazzi, Tiziana; Padella, Lucia; Santoro, Lucia; Gabrielli, Orazio; Volpi, N.
Structural characterization of chondroitin sulfate from Italian cheese Parmigiano Reggiano
2012-01-01 Coppa, Giovanni Valentino; F., Maccari; Zampini, Lucia; Santoro, Lucia; Galeazzi, Tiziana; Gabrielli, Orazio; N., Volpi
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. | 1-gen-2009 | Callewaert, Bl; Loeys, Bl; Ficcadenti, A; Gabrielli, Orazio | |
| Effect of coenzyme Q (10) in mitigating oxidative DNA damage in Down syndrome patients, a double blind randomised controlled trial. | 1-gen-2009 | Tiano, L.; Carnevali, P.; Padella, L.; Santoro, L.; Principi, F.; Brugè, F.; Carle, F.; Gesuita, Rosaria; Gabrielli, Orazio; Littarru, GIAN PAOLO | |
| Rapid Genetic Analysis, Imaging with 18F-DOPA-PET/CT Scan and Laparoscopic Surgery in Congenital Hyperinsulinism. | 1-gen-2010 | Cherubini, V.; Bagalini, Ls; Ianilli, A.; Marigliano, Marco; Biagioni, M.; Carnielli, Virgilio; Iasonni, V.; Berbellini, A.; Hussain, K.; Gabrielli, Orazio | |
| Short and reliable method for mucopolysaccharidoses diagnosis | 1-gen-2010 | Galeazzi, Tiziana; Zampini, Lucia; Padella, L; Santoro, L; Coppa, Gv; Gabrielli, Orazio | |
| Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up. | 1-gen-2010 | Gabrielli, Orazio; Clarke, L. A.; Bruni, Stefano; Coppa, Giovanni Valentino | |
| Stickler sindrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. | 1-gen-2010 | Hoornaert, Kp; Vereecke, I; Dewinter, C; Rosenberg, T; Beemer, Fa; Leroy, Jg; Bendix, L; Björck, E; Bonduelle, M; Boute, O; Cormier Daire, V; De Die Smulders, C; Dieux Coeslier, A; Dollfus, H; Elting, M; Green, A; Guerci, Vi; Hennekam, Rc; Hilhorts Hofstee, Y; Holder, M; Hoyng, C; Jones, Kj; Josifova, D; Kaitila, I; Kjaergaard, S; Kroes, Yh; Lagerstedt, K; Lees, M; Lemerrer, M; Magnani, C; Marcelis, C; Martorell, L; Mathieu, M; Mcentagart, M; Mendicino, A; Morton, J; Gabrielli, Orazio; Paquis, V; Reish, O; Simola, Ko; Smithson, Sf; Temple, Ki; Van Aken, E; Van Bever, Y; van den Ende, J; Van Hagen, Jm; Zelante, L; Zordania, R; De Paepe, A; Leroy, Bp; De Buyzere, M; Coucke, Pj; Mortier, G. R. | |
| Effect of 6 years enzyme replacement therapy on plasma and urine glycosaminoglycans in attenuated MPS I patients | 1-gen-2010 | Coppa, G. V.; Buzzega, D.; Zampini, Lucia; Maccari, F.; Galeazzi, Tiziana; Pederzoli, F.; Gabrielli, Orazio; Volpi, N. | |
| High-throughput determination of urinary hexosamines for diagnosis of mucopolysaccharidoses by capillary electrophoresis and high-performance liquid chromatography. | 1-gen-2011 | Coppa, Giovanni Valentino; Galeotti, F; Zampini, Lucia; Maccari, F; Galeazzi, Tiziana; Padelia, L; Santoro, L; Gabrielli, Orazio; Volpi, N. | |
| Preterm milk oligosaccharides during the first month of lactation | 1-gen-2011 | Gabrielli, Orazio; Zampini, Lucia; Galeazzi, Tiziana; Padella, L.; Santoro, Lucia; Peila, C.; Giuliani, F.; Bertino, E.; Fabris, C.; Coppa, G. V. | |
| Oligosaccharides in 4 Different Milk Groups, Bifidobacteria, and Ruminococcus obeum. | 1-gen-2011 | Coppa, Giovanni Valentino; Gabrielli, Orazio; Zampini, Lucia; Galeazzi, Tiziana; Ficcadenti, A; Padella, Lucia; Santoro, Lucia; Soldi, S; Carlucci, A; Bertino, E; Morelli, L. | |
| Effect of Coenzyme Q(10) in mitigating oxidative DNA damage in Down syndrome patients, a double blind randomized controlled trial. | 1-gen-2011 | Tiano, Luca; Carnevali, P; Padella, L; Santoro, Lucia; Principi, F; Brugè, F; Carle, Flavia; Gesuita, Rosaria; Gabrielli, Orazio; Littarru, GIAN PAOLO | |
| SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. | 1-gen-2011 | Lepri, F; De Luca, A; Stella, L; Rossi, C; Baldassarre, G; Pantaleoni, F; Cordeddu, V; Williams, Bj; Dentici, Ml; Caputo, V; Venanzi, S; Bonaguro, M; Kavamura, I; Faienza, Mf; Pilotta, A; Stanzial, F; Faravelli, F; Gabrielli, Orazio; Marino, B; Neri, G; Silengo, Mc; Ferrero, Gb; Torrrente, I; Selicorni, A; Mazzanti, L; Digilio, Mc; Zampino, G; Dallapiccola, B; Gelb, Bd; Tartaglia, M. | |
| IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. | 1-gen-2011 | Bertola, F; Filocamo, M; Casati, G; Mort, M; Rosano, C; Tylki Szymanska, A; Tüysüz, B; Gabrielli, Orazio; Grossi, S; Scarpa, M; Parenti, G; Antuzzi, D; Dalmau, J; Rocco, Md; Vici, Cd; Okur, I; Rosell, J; Rovelli, A; Furlan, F; Rigoldi, M; Biondi, A; Cooper, Dn; Parini, R. | |
| Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients | 1-gen-2011 | Micale, L.; Augello, B.; Fusco, C.; Selicorni, A.; Loviglio, M. N.; Silengo, M. C.; Reymond, A.; Gumiero, B.; Gabrielli, Orazio; Zucchetti, F.; D'Addetta, E. V.; Belligni, E.; Calcagnì, A.; Digilio, M. C.; Dallapiccola, B.; Faravelli, F.; Forzano, F.; Accadia, M.; Bonfante, A.; Clementi, M.; Daolio, C.; Douzgou, S.; Ferrari, P.; Fischetto, R.; Garavelli, L.; Lapi, E.; Mattina, T.; Melis, D.; Patricelli, M. G.; Priolo, M.; Prontera, P.; Renieri, A.; Mencarelli, M. A.; Scarano, G.; della Monica, M.; Toschi, B.; Turolla, L.; Vancini, A.; Zatterale, A.; ., ; Zelante, L.; Merla, G. | |
| Alterations of platelet biochemical and functional properties in newly diagnosed type 1 diabetes: a role in cardiovascular risk? | 1-gen-2011 | Vignini, Arianna; Moroni, C; Nanetti, Laura; Raffaelli, Francesca; Cester, A; Gabrielli, Orazio; Cherubini, V; Mazzanti, Laura | |
| Composition and structure elucidation of human milk glycosaminoglycans. | 1-gen-2011 | Coppa, Giovanni Valentino; Gabrielli, Orazio; Buzzega, D; Zampini, Lucia; Galeazzi, Tiziana; Maccari, F; Bertino, E; Volpi, N. | |
| Glycosaminoglycan content in term and preterm milk during the first month of lactation | 1-gen-2012 | Coppa, G. V.; Gabrielli, Orazio; Zampini, Lucia; Galeazzi, Tiziana; Maccari, F.; Buzzega, D.; Galeotti, F.; Bertino, E.; Volpi, N. | |
| Prolonged coenzyme Q10 treatment in Down syndrome patients: effect on DNA damage | 1-gen-2012 | Tiano, Luca; Padella, L; Santoro, L; Carnevali, P; Principi, F; Brugè, F; Gabrielli, Orazio; Littarru, Gp | |
| On-line high-performance liquid chromatography-fluorescence detection-electrospray ionization-mass spectrometry profiling of human milk oligosaccharides dervatized with 2-aminoacridone | 1-gen-2012 | Galeotti, F.; Coppa, Giovanni Valentino; Zampini, Lucia; Maccari, F.; Galeazzi, Tiziana; Padella, Lucia; Santoro, Lucia; Gabrielli, Orazio; Volpi, N. | |
| Structural characterization of chondroitin sulfate from Italian cheese Parmigiano Reggiano | 1-gen-2012 | Coppa, Giovanni Valentino; F., Maccari; Zampini, Lucia; Santoro, Lucia; Galeazzi, Tiziana; Gabrielli, Orazio; N., Volpi |
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