SANGIUOLO, FEDERICA CARLA

SANGIUOLO, FEDERICA CARLA  

Dipartimento di Biomedicina e Prevenzione  

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Data di pubblicazione Titolo Autore(i) Tipo File
1-ago-2003 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands Bonne, G; Yaou, R; Béroud, C; Boriani, G; Brown, S; de Visser, M; Duboc, D; Ellis, J; Hausmanowa Petrusewicz, I; Lattanzi, G; Merlini, L; Morris, G; Muntoni, F; Opolski, G; Pinto, Y; Sangiuolo, Fc; Toniolo, D; Trembath, R; van Berlo, J; van der Kooi, A; Wehnert, M Articolo su rivista
29-set-2012 3'-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients Sciacqua, A; Presta, I; Perticone, M; Tassone, E; Andreozzi, F; Quitadamo, M; Sangiuolo, Fc; Sesti, G; Perticone, F Articolo su rivista
1-giu-2021 A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles Botta, A; Visconti, Vv; Fontana, L; Bisceglia, P; Bengala, M; Massa, R; Bagni, I; Cardani, R; Sangiuolo, F; Meola, G; Antonini, G; Petrucci, A; Pegoraro, E; D'Apice, Mr; Novelli, G Articolo su rivista
11-set-1999 A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13 Servidei, S; Capon, F; Spinazzola, A; Mirabella, M; Semprini, S; de Rosa, G; Gennarelli, M; Sangiuolo, Fc; Ricci, E; Mohrenweiser, H; Dallapiccola, B; Tonali, P; Novelli, G Articolo su rivista
1-giu-2023 A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome Graziani, L; Cinnirella, G; Ferradini, V; Conte, C; Bascio, Fl; Bengala, M; Sangiuolo, F; Novelli, G Articolo su rivista
1-gen-1994 A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay Sangiuolo, Fc; De Santis, L; Cavicchini, A; Angeloni, U; Romanini, C; Novelli, G; Dallapiccola, B Articolo su rivista
1-gen-2018 A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family Maroofian, R; Murdocca, M; Rezaei-Delui, H; Nekooei, A; Mojarad, M; Sangiuolo, F; Novelli, G; Superti-Furga, A; D'Apice, Mr Articolo su rivista
1-gen-2015 A perturbed MicroRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA) Luchetti, A; Ciafre', Sa; Murdocca, M; Malgieri, A; Masotti, A; Sanchez, M; Farace, Mg; Novelli, G; Sangiuolo, Fc Articolo su rivista
1-gen-2009 A pilot beta-thalassaemia screening program in the Albanian population for a health planning program Baghernajad Salehi, L; D'Apice, M; Babameto Laku, A; Biancolella, M; Mitre, A; Russo, S; DI DANIELE, N; Sangiuolo, Fc; Mokini, V; Novelli, G Articolo su rivista
1-gen-2017 A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation Capuano, R; Spitalieri, P; Talarico, R; Domakoski, Ac; Catini, A; Paolesse, R; Martinelli, E; Novelli, G; Sangiuolo, Fc; DI NATALE, C Articolo su rivista
1-apr-1991 A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis Sangiuolo, Fc; Novelli, G; Murru, S; Dallapiccola, B Articolo su rivista
1-gen-2018 AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1 Dinarelli, S; Girasole, M; Spitalieri, P; Talarico, Rv; Murdocca, M; Botta, A; Novelli, G; Mango, R; Sangiuolo, F; Longo, G Articolo su rivista
1-gen-2020 An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene Daneshjoo, O; Salehi, L; Pizzuti, A; Novelli, G; Sangiuolo, F Articolo su rivista
1-ott-1991 Analysis of 14 cystic fibrosis mutations in five south European populations Nunes, V; Gasparini, P; Novelli, G; Gaona, A; Bonizzato, A; Sangiuolo, Fc; Balassopoulou, A; Giménez, F; Dognini, M; Ravnik Glavac, M Articolo su rivista
1-set-2003 Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies Amati, F; Condo', I; Conti, E; Sangiuolo, Fc; Dallapiccola, B; Testi, R; Novelli, G Articolo su rivista
1-gen-1995 Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population Russo, M; Romeo, G; Devoto, M; Barbujani, G; Cabrini, G; Giunta, A; D'Alcamo, E; Leoni, G; Sangiuolo, Fc; Magnani, C; Cremonesi, L; Ferrari, M Articolo su rivista
1-gen-2020 Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery De Masi, C; Spitalieri, P; Murdocca, M; Novelli, G; Sangiuolo, F Articolo su rivista
1-gen-2015 Application of Next Generation Sequencing for personalized medicine for sudden cardiac death Morini, E; Sangiuolo, Fc; Caporossi, D; Novelli, G; Amati, F Articolo su rivista
1-gen-2018 Assessing individual risk for AMD with genetic counseling, family history, and genetic testing Cascella, R; Strafella, C; Longo, G; Manzo, L; Ragazzo, M; De Felici, C; Gambardella, S; Marsella, Lt; Novelli, G; Borgiani, P; Sangiuolo, F; Cusumano, A; Ricci, F; Giardina, E Articolo su rivista
1-gen-1996 Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization Colosimo, A; Calabrese, G; Gennarelli, M; Ruzzo, A; Sangiuolo, Fc; Magnani, M; Palka, G; Novelli, G; Dallapiccola, B Articolo su rivista