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Mostrati risultati da 1 a 20 di 32
Data di pubblicazione Titolo Autore(i) Tipo File
1-gen-2015 P63 in health and cancer Gonfloni, S; Caputo, V; Iannizzotto, V Articolo su rivista
1-gen-2016 Proceedings Syndrome Day 2016 Frank-Majewski-Prize Winner 2016 Kortum, F; Caputo, V; Bauer, C; Stella, L; Ciolfi, A; Alawi, M; Bocchinfuso, G; Flex, E; Paolacci, S; Dentici, M; Grammatico, P; Korenke, G; Leuzzi, V; Mowat, D; Nair, L; Nguyen, T; Thierry, P; White, S; Dallapiccola, B; Pizzuti, A; Campeau, P; Tartaglia, M; Kutsche, K Articolo su rivista
1-gen-2018 Application of precision medicine in neurodegenerative diseases Strafella, C; Caputo, V; Galota, Mr; Zampatti, S; Marella, G; Mauriello, S; Cascella, R; Giardina, E Articolo su rivista
1-gen-2018 Effects of micro-textured polystyrene substrates by compression molding on cell adhesion and proliferation Bellisario, D; Quadrini, F; Santolim, G; Tedde, Gm; Caputo, V; Spitalieri, P; Sangiuolo, F; Santo, L Articolo su rivista
1-gen-2018 Digenic inheritance of shortened repeat units of the D4Z4 region and a loss-of-function variant in SMCHD1 in a Family with FSHD Cascella, R; Strafella, C; Caputo, V; Galota, Rm; Errichiello, V; Scutifero, M; Petillo, R; Marella, Gl; Arcangeli, M; Colantoni, L; Zampatti, S; Ricci, E; Deidda, G; Politano, L; Giardina, E Articolo su rivista
1-gen-2018 Gender and complex diseases: Insights into sex-specific epigenetic|Genere e malattie complesse: Meccanismi epigenetici sesso-specifici Caputo, V; Cascella, R; Strafella, C; Giardina, E; Novelli, G Articolo su rivista
1-gen-2018 Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: Significant association of twelve variants Cascella, R; Strafella, C; Longo, G; Ragazzo, M; Manzo, L; De Felici, C; Errichiello, V; Caputo, V; Viola, F; Eandi, Cm; Staurenghi, G; Cusumano, A; Mauriello, S; Marsella, Lt; Ciccacci, C; Borgiani, P; Sangiuolo, F; Novelli, G; Ricci, F; Giardina, E Articolo su rivista
1-gen-2019 The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A. Strafella, C; Errichiello, V; Caputo, V; Aloe, G; Ricci, F; Cusumano, A; Novelli, G; Giardina, E; Cascella, R Articolo su rivista
1-gen-2019 Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era. Zampatti, S; Colantoni, L; Strafella, C; Galota, R; Caputo, V; Campoli, G; Pagliaroli, G; Carboni, S; Mela, J; Peconi, C; Gambardella, S; Cascella, R; Giardina, E Articolo su rivista
1-gen-2019 Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis Musumeci, Ml; Fiorentini, F; Bianchi, L; Cascella, R; Giardina, E; Caputo, V; Micali, G Articolo su rivista
1-gen-2019 Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report. Strafella, C; Campoli, G; Galota, R; Caputo, V; Pagliaroli, G; Carboni, S; Zampatti, S; Peconi, C; Mela, J; Sancricca, C; Primiano, G; Minozzi, G; Servidei, S; Cascella, R; Giardina, E Articolo su rivista
4-giu-2019 Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations. Strafella, C; Caputo, V; Minozzi, G; Milano, F; Arcangeli, M; Sobhy, N; Abdelmaksood, R; Hashad, D; Vakirlis, E; Novelli, G; Cascella, R; Giardina, E Articolo su rivista
1-ott-2019 Ngs analysis for molecular diagnosis of Retinitis Pigmentosa (RP): Detection of a novel variant in PRPH2 gene Strafella, C; Caputo, V; Pagliaroli, G; Iozzo, N; Campoli, G; Carboni, S; Peconi, C; Galota, Rm; Zampatti, S; Minozzi, G; Novelli, G; Giardina, E; Cascella, R Articolo su rivista
1-ott-2019 The Variability of SMCHD1 Gene in FSHD Patients: Evidence of New Mutations Strafella, C; Caputo, V; Galota, R; Campoli, G; Bax, C; Colantoni, L; Minozzi, G; Orsini, C; Politano, L; Tasca, G; Novelli, G; Ricci, E; Giardina, E; Cascella, R Articolo su rivista
1-gen-2020 Interpreting mixture profiles: comparison between precision ID GlobalFiler™ NGS STR panel v2 and traditional methods Ragazzo, M; Carboni, S; Caputo, V; Buttini, C; Manzo, L; Errichiello, V; Puleri, G; Giardina, E Articolo su rivista
1-gen-2020 Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes Caputo, V; Strafella, C; Termine, A; Dattola, A; Mazzilli, S; Lanna, C; Cosio, T; Campione, E; Novelli, G; Giardina, E; Cascella, R Articolo su rivista
1-gen-2020 Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications Strafella, C; Caputo, V; Termine, A; Barati, S; Gambardella, S; Borgiani, P; Caltagirone, C; Novelli, G; Giardina, E; Cascella, R Articolo su rivista
1-gen-2020 Genetic counseling and NGS screening for recessive LGMD2A families Strafella, C; Caputo, V; Campoli, G; Galota, R; Mela, J; Zampatti, S; Minozzi, G; Sancricca, C; Servidei, S; Giardina, E; Cascella, R Articolo su rivista
1-gen-2020 Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations Sbardella, D; Tundo, Gr; Cunsolo, V; Grasso, G; Cascella, R; Caputo, V; Santoro, Am; Milardi, D; Pecorelli, A; Ciaccio, C; Di Pierro, D; Leoncini, S; Campagnolo, L; Pironi, V; Oddone, F; Manni, P; Foti, S; Giardina, E; De Felice, C; Hayek, J; Curatolo, P; Galasso, C; Valacchi, G; Coletta, M; Graziani, G; Marini, S Articolo su rivista
15-apr-2020 RNAseq-based prioritization revealed COL6A5, COL8A1, COL10A1 and MIR146A as common and differential susceptibility biomarkers for psoriasis and psoriatic arthritis: confirmation from genotyping analysis of 1417 Italian subjects Caputo, V; Strafella, C; Termine, A; Campione, E; Bianchi, L; Novelli, G; Giardina, E; Cascella, R Articolo su rivista
Mostrati risultati da 1 a 20 di 32
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