Sfoglia per Autore
Interferon (IFN) treatment in pediatric chronic hepatitis B (CHB): a metanalysis
1998-01-01 Vajro, Pietro; Manguso, F.; Silvestre, C.; Brancato, T.; Desilva, C.; Melis, D.
Long term results of 2b Interferon treatment with and without steroid priming in chronic viral hepatitis B in children
1998-01-01 Vajro, Pietro; Fontanella, A.; Melis, D.; Cecere, G.; Brancato, T.; Spaziano, Mt
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1
1998-01-01 Melis, D.; Perone, L.; Sperandeo, M. P.; Sabbatino, M. S.; Tuzzi, M. R.; Romano, A.; Parenti, G.; Andria, G.
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL
2002-01-01 Lucchiari, S; Donati, Ma; Parini, R; Melis, D; Gatti, R; Bresolin, N; Scarlato, G; Comi, Gp.
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1
2002-01-01 Gepke Visser Æ Jan Peter Rake Æ Philippe Labrune James V. Leonard Æ Shimon Moses Æ Kurt Ullrich Udo Wendel Æ Klaas H. Groenier Æ G. Peter A., Smit; W, Endres; D, Skladal; E, Sokal; J, Zeman; P, Labrune; P Bu¨, Hrdel; K, Ullrich; G Da¨, Ublin; U, Wendel; Jvleonard, ; P, Lee; G, Mieli-Vergani; P, Gandullia; R, Gatti; Mdi, Rocco; G, Andria; Melis, D; S, Moses; E, Pronicka; Dr, N Kocak; Dr, H O¨ zen
Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I)
2002-01-01 Jan Peter Rake Æ Gepke Visser Æ Philippe Labrune James V. Leonard Æ Kurt Ullrich Æ G. Peter A., Smit; ESGSD I., Members ofthe ESGSD I are: Austria (W Endres; D, Skladal; Innsbruck), ; Belgium (E, Sokal; Brussels), ; Czech Republic (J, Zeman; Prague), ; France (P, Labrune; Clamart), ; Germany (P Bu¨, Hrdel; Leipzig, ; K Ullrich, ; Hamburg, ; G Da¨, Ublin; U, Wendel; Du¨, sseldorf); Great Britain (P, Lee; Jv, Leonard; G, Mieli-Vergani; London), ; Hungary (L Szo¨, Nyi; Budapest), ; Italy (P, Gandullia; R, Gatti; M di, Rocco; Genoa, ; Melis, D; G, Andria; Naples), ; Israel (S, Moses; Beersheva), ; Poland (J, Taybert; E, Pronicka; Warsaw), ; The Netherlands, (JP Rake; Gpa, Smit; G, Visser; Groningen), ; Turkey (H O¨, Zen; N Kocak, ; Ankara),
Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area
2002-01-01 Lucchiari 1, S; Fogh, I; Prelle, A; Parini, R; Bresolin, N; Melis, D; Fiori, L; Scarlato, G; P Comi, G
Frequent persistence of hepatic abnormalities in children with hereditary fructose intolerance (HFI) is not correlated to specific gene mutations.
2003-01-01 Grazia, Capuano; Parenti, G.; Mandato, Claudia; Lucariello, S.; Ciccimarra, E.; Melis, Daniela; Esposito, G.; Salvatore, F.; Andria, G.; Vajro, Pietro
NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic
2004-01-01 Melis, D; Havelaar, Ac; Verbeek, E; Smit, Gp; Benedetti, A; Mancini, Gm; Verheijen F,
Brain damage in glycogen storage disease type I.
2004-01-01 Melis, D.; Parenti, G.; Casa, R. D.; Romano, A.; DI SALLE, Francesco; Elefante, R.; Mansi, G.; Santoro, L.; Perretti, A.; Paludetto, R.; Sequino, L.; Andria, G.; Sibilio, Maurizio
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study
2005-01-01 Melis, D; Parenti, G; Gatti, R; DELLA CASA, R.; Parini, R; Riva, E; Burlina, Ab; DIONISI-VICI, C; DI ROCCO, M; Furlan, F; Torcoletti, M; Papadia, F; Donati, A; Benigno, V; Andria, G
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins
2006-01-01 Melis, D; Pia Sperandeo, M; Perone, L; Staiano, A; Andria, G; Sebastio, G
Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions
2007-01-01 Melis, D.; Majo, F.; Ginocchio, V. M.; De Brasi, D.; Nitsch, L.; Conti, A.; Genesio, R.; Fabbrini, F.; Tedeschi, P.; Della Casa, R.
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I
2007-01-01 Melis, D; Pivonello, R; Parenti, G; R., DELLA CASA; Salerno, M; Lombardi, G; Sebastio, G; Colao, A; Andria, G
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders?
2008-01-01 Melis, D; Balivo, F; Della Casa, R; Romano, A; Taurisano, R; Capaldo, B; Riccardi, G; Monsurrò, Mr; Parenti, G; Andria, G
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations
2010-01-01 Pangrazio, A; Pusch, M; Caldana, E; Frattini, A; Lanino, E; Tamhankar, Pm; Phadke S, ; Lopez, Ag; Orchard, P; Mihci, E; Abinun, M; Wright, M; Vettenranta, K; Bariae, I; Melis, D; Tezcan, I; Baumann, C; Locatelli, F; Zecca, M; Horwitz, E; Mansour, Ls; Van Roij, M; Vezzoni, P; Villa, A; Sobacchi, C
Infantile systemic hyalinosis: an atypical milder form
2010-01-01 Alessio, M; Carlomagno, R; Battagliese, A; Boemio, P; Vitiello, P; Natella, V; Melis, D.
A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa
2011-01-01 Gritti, A; Salerno, F; Pisano, S; Formicola, F; Melis, D; Franzese, A
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients
2011-01-01 Micale, L; Augello, B; Fusco, C; Selicorni, A; Loviglio, Mn; Silengo, Mc; Reymond A, ; Gumiero, B; Zucchetti, F; D'Addetta, Ev; Belligni, E; Calcagnì, A; Digilio, Mc; 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, Mg; Priolo, M; Prontera, P; Renieri, A; Mencarelli, Ma; Scarano, G; della Monica, M; Toschi, B; Turolla, L; Vancini, A; Zatterale, A; Gabrielli, O; Zelante, L; Merla, G
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22
2011-01-01 Melis, D; Genesio, R; Cappuccio, G; Mariaginocchio, V; Casa, Rd; Menna, G; Buffardi S, ; Poggi, V; Leszle, A; Imperati, F; Carella, M; Izzo, A; Del Giudice, E; Nitsch, L; Andria, G
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Interferon (IFN) treatment in pediatric chronic hepatitis B (CHB): a metanalysis | 1-gen-1998 | Vajro, Pietro; Manguso, F.; Silvestre, C.; Brancato, T.; Desilva, C.; Melis, D. | |
| Long term results of 2b Interferon treatment with and without steroid priming in chronic viral hepatitis B in children | 1-gen-1998 | Vajro, Pietro; Fontanella, A.; Melis, D.; Cecere, G.; Brancato, T.; Spaziano, Mt | |
| Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 | 1-gen-1998 | Melis, D.; Perone, L.; Sperandeo, M. P.; Sabbatino, M. S.; Tuzzi, M. R.; Romano, A.; Parenti, G.; Andria, G. | |
| Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL | 1-gen-2002 | Lucchiari, S; Donati, Ma; Parini, R; Melis, D; Gatti, R; Bresolin, N; Scarlato, G; Comi, Gp. | |
| Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1 | 1-gen-2002 | Gepke Visser Æ Jan Peter Rake Æ Philippe Labrune James V. Leonard Æ Shimon Moses Æ Kurt Ullrich Udo Wendel Æ Klaas H. Groenier Æ G. Peter A., Smit; W, Endres; D, Skladal; E, Sokal; J, Zeman; P, Labrune; P Bu¨, Hrdel; K, Ullrich; G Da¨, Ublin; U, Wendel; Jvleonard, ; P, Lee; G, Mieli-Vergani; P, Gandullia; R, Gatti; Mdi, Rocco; G, Andria; Melis, D; S, Moses; E, Pronicka; Dr, N Kocak; Dr, H O¨ zen | |
| Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I) | 1-gen-2002 | Jan Peter Rake Æ Gepke Visser Æ Philippe Labrune James V. Leonard Æ Kurt Ullrich Æ G. Peter A., Smit; ESGSD I., Members ofthe ESGSD I are: Austria (W Endres; D, Skladal; Innsbruck), ; Belgium (E, Sokal; Brussels), ; Czech Republic (J, Zeman; Prague), ; France (P, Labrune; Clamart), ; Germany (P Bu¨, Hrdel; Leipzig, ; K Ullrich, ; Hamburg, ; G Da¨, Ublin; U, Wendel; Du¨, sseldorf); Great Britain (P, Lee; Jv, Leonard; G, Mieli-Vergani; London), ; Hungary (L Szo¨, Nyi; Budapest), ; Italy (P, Gandullia; R, Gatti; M di, Rocco; Genoa, ; Melis, D; G, Andria; Naples), ; Israel (S, Moses; Beersheva), ; Poland (J, Taybert; E, Pronicka; Warsaw), ; The Netherlands, (JP Rake; Gpa, Smit; G, Visser; Groningen), ; Turkey (H O¨, Zen; N Kocak, ; Ankara), | |
| Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area | 1-gen-2002 | Lucchiari 1, S; Fogh, I; Prelle, A; Parini, R; Bresolin, N; Melis, D; Fiori, L; Scarlato, G; P Comi, G | |
| Frequent persistence of hepatic abnormalities in children with hereditary fructose intolerance (HFI) is not correlated to specific gene mutations. | 1-gen-2003 | Grazia, Capuano; Parenti, G.; Mandato, Claudia; Lucariello, S.; Ciccimarra, E.; Melis, Daniela; Esposito, G.; Salvatore, F.; Andria, G.; Vajro, Pietro | |
| NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic | 1-gen-2004 | Melis, D; Havelaar, Ac; Verbeek, E; Smit, Gp; Benedetti, A; Mancini, Gm; Verheijen F, | |
| Brain damage in glycogen storage disease type I. | 1-gen-2004 | Melis, D.; Parenti, G.; Casa, R. D.; Romano, A.; DI SALLE, Francesco; Elefante, R.; Mansi, G.; Santoro, L.; Perretti, A.; Paludetto, R.; Sequino, L.; Andria, G.; Sibilio, Maurizio | |
| Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study | 1-gen-2005 | Melis, D; Parenti, G; Gatti, R; DELLA CASA, R.; Parini, R; Riva, E; Burlina, Ab; DIONISI-VICI, C; DI ROCCO, M; Furlan, F; Torcoletti, M; Papadia, F; Donati, A; Benigno, V; Andria, G | |
| Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins | 1-gen-2006 | Melis, D; Pia Sperandeo, M; Perone, L; Staiano, A; Andria, G; Sebastio, G | |
| Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions | 1-gen-2007 | Melis, D.; Majo, F.; Ginocchio, V. M.; De Brasi, D.; Nitsch, L.; Conti, A.; Genesio, R.; Fabbrini, F.; Tedeschi, P.; Della Casa, R. | |
| Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I | 1-gen-2007 | Melis, D; Pivonello, R; Parenti, G; R., DELLA CASA; Salerno, M; Lombardi, G; Sebastio, G; Colao, A; Andria, G | |
| Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? | 1-gen-2008 | Melis, D; Balivo, F; Della Casa, R; Romano, A; Taurisano, R; Capaldo, B; Riccardi, G; Monsurrò, Mr; Parenti, G; Andria, G | |
| Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations | 1-gen-2010 | Pangrazio, A; Pusch, M; Caldana, E; Frattini, A; Lanino, E; Tamhankar, Pm; Phadke S, ; Lopez, Ag; Orchard, P; Mihci, E; Abinun, M; Wright, M; Vettenranta, K; Bariae, I; Melis, D; Tezcan, I; Baumann, C; Locatelli, F; Zecca, M; Horwitz, E; Mansour, Ls; Van Roij, M; Vezzoni, P; Villa, A; Sobacchi, C | |
| Infantile systemic hyalinosis: an atypical milder form | 1-gen-2010 | Alessio, M; Carlomagno, R; Battagliese, A; Boemio, P; Vitiello, P; Natella, V; Melis, D. | |
| A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa | 1-gen-2011 | Gritti, A; Salerno, F; Pisano, S; Formicola, F; Melis, D; Franzese, A | |
| Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients | 1-gen-2011 | Micale, L; Augello, B; Fusco, C; Selicorni, A; Loviglio, Mn; Silengo, Mc; Reymond A, ; Gumiero, B; Zucchetti, F; D'Addetta, Ev; Belligni, E; Calcagnì, A; Digilio, Mc; 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, Mg; Priolo, M; Prontera, P; Renieri, A; Mencarelli, Ma; Scarano, G; della Monica, M; Toschi, B; Turolla, L; Vancini, A; Zatterale, A; Gabrielli, O; Zelante, L; Merla, G | |
| Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 | 1-gen-2011 | Melis, D; Genesio, R; Cappuccio, G; Mariaginocchio, V; Casa, Rd; Menna, G; Buffardi S, ; Poggi, V; Leszle, A; Imperati, F; Carella, M; Izzo, A; Del Giudice, E; Nitsch, L; Andria, G |
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