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Data di pubblicazione Titolo Autore(i) Tipo File
1-gen-2002 Towards the pharmacogenomics of cystic fibrosis Sangiuolo, Fc; D'Apice, Mr; Bruscia, E; Lucidi, V; Novelli, G Articolo su rivista
1-gen-2002 Mutational analysis of Peroxiredoxin IV: Exclusion of a positional candidate for multinodular goitre Giardina, E; Capon, F; D'Apice, Mr; Amati, F; Arturi, A; Filetti, S; Bonifazi, E; Pucci, S; Conte, C; Novelli, G Articolo su rivista
1-gen-2002 3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population Vavassori, P; Borgiani, P; D'Apice, Mr; De Negris, F; DEL VECCHIO BLANCO, G; Monteleone, I; Biancone, L; Novelli, G; Pallone, E Articolo su rivista
1-gen-2002 Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population Borgiani, P; Vallo, L; D'Apice, Mr; Giardina, E; Pucci, S; Capon, F; Nistico', Sp; Chimenti, S; Pallone, F; Novelli, G Articolo su rivista
1-ago-2002 Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C Novelli, G; Muchir, A; Sangiuolo, Fc; Helbling Leclerc, A; D'Apice, Mr; Massart, C; Capon, F; Sbraccia, P; Federici, M; Lauro, R; Tudisco, C; Pallotta, R; Scarano, G; Dallapiccola, B; Merlini, L; Bonne, G Articolo su rivista
1-gen-2004 Gene expression profiling of fibroblasts from a human progeroid disease mandibuloacral dysplasia, MAD #248370 through cDNA microarrays Amati, F; Biancolella, M; D'Apice, Mr; Gambardella, S; Mango, R; Sbraccia, P; D'Adamo, M; Margiotti, K; Nardone, A; Lewis, M; Novelli, G Articolo su rivista
1-lug-2006 Gonadal mosaicism in hereditary angioedema Guarino, S; Perricone, C; Guarino, Md; Giardina, E; Gambardella, S; D'Apice, Mr; Bulli, C; Perricone, R; Novelli, G Articolo su rivista
1-nov-2007 Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype Lombardi, F; Gullotta, F; Columbaro, M; Filareto, A; D'Adamo, M; Vielle, A; Guglielmi, V; Nardone, A; Azzolini, V; Grosso, E; Lattanzi, G; D'Apice, Mr; Masala, S; Maraldi, N; Sbraccia, P; Novelli, G Articolo su rivista
1-gen-2011 The etiology of acute recurrent pancreatitis in children: A challenge for pediatricians Lucidi, V; Alghisi, F; Dall'Oglio, L; D'Apice, Mr; Monti, L; De Angelis, P; Gambardella, S; Angioni, A; Novelli, G Articolo su rivista
1-gen-2012 Protein farnesylation and disease Novelli, G; D'Apice, Mr Articolo su rivista
1-gen-2014 Rapamycin treatment of mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics Cenni, V; Capanni, C; Mattioli, E; Columbaro, M; Wehnert, M; Ortolani, M; Fini, M; Novelli, G; Bertacchini, J; Maraldi, N; Marmiroli, S; D'Apice, Mr; Prencipe, S; Squarzoni, S; Lattanzi, G Articolo su rivista
1-gen-2015 Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? D'Apice, Mr; Novelli, A; di Masi, A; Biancolella, M; Antoccia, A; Gullotta, F; Licata, N; Minella, D; Testa, B; Nardone, A; Palmieri, G; Calabrese, E; Biancone, L; Tanzarella, C; Frontali, M; Sangiuolo, Fc; Novelli, G; Pallone, F Articolo su rivista
1-gen-2015 Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene Viggiano, E; Marabotti, A; Burlina, Ap; Cazzorla, C; D'Apice, Mr; Giordano, L; Fasan, I; Novelli, G; Facchiano, A; Burlina, Ab Articolo su rivista
1-gen-2015 Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: Understanding the osteolytic process triggered by altered lamins Evangelisti, C; Bernasconi, P; Cavalcante, P; Cappelletti, C; D'Apice, Mr; Sbraccia, P; Novelli, G; Prencipe, S; Lemma, S; Baldini, N; Avnet, S; Squarzoni, S; Martelli, Am; Lattanzi, G Articolo su rivista
1-lug-2015 Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy Ruggieri, A; Brancati, F; Zanotti, S; Maggi, L; Pasanisi, M; Saredi, S; Terracciano, C; Antozzi, C; D'Apice, Mr; Sangiuolo, Fc; Novelli, G; Marshall, C; Scherer, S; Morandi, L; Federici, L; Massa, R; Mora, M; Minassian, B Articolo su rivista
4-set-2016 Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis Longo, G; Russo, S; Novelli, G; Sangiuolo, Fc; D'Apice, Mr Articolo su rivista
1-gen-2017 Targeted Next Generation Sequencing in patients with Myotonia Congenita Ferradini, V; Cassone, M; Nuovo, S; Bagni, I; D'Apice, Mr; Botta, A; Novelli, G; Sangiuolo, Fc Articolo su rivista
1-gen-2018 Lamins and bone disorders: current understanding and perspectives Gargiuli, C; Schena, E; Mattioli, E; Columbaro, M; D'Apice, Mr; Novelli, G; Greggi, T; Lattanzi, G Articolo su rivista
1-gen-2018 Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene Fiorillo, C; D'Apice, Mr; Trucco, F; Murdocca, M; Spitalieri, P; Assereto, S; Baratto, S; Morcaldi, G; Minetti, C; Sangiuolo, F; Novelli, G Articolo su rivista
1-gen-2018 Mandibuloacral dysplasia: a premature ageing disease with aspects of physiological ageing Cenni, V; D'Apice, Mr; Garagnani, P; Columbaro, M; Novelli, G; Franceschi, C; Lattanzi, G Articolo su rivista
Mostrati risultati da 1 a 20 di 30
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