SANGIUOLO, FEDERICA CARLA
SANGIUOLO, FEDERICA CARLA
Dipartimento di Biomedicina e Prevenzione
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
2003-08-01 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
3'-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients
2012-09-29 Sciacqua, A; Presta, I; Perticone, M; Tassone, E; Andreozzi, F; Quitadamo, M; Sangiuolo, Fc; Sesti, G; Perticone, F
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles
2021-06-01 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
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13
1999-09-11 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
A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome
2023-06-01 Graziani, L; Cinnirella, G; Ferradini, V; Conte, C; Bascio, Fl; Bengala, M; Sangiuolo, F; Novelli, G
A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay
1994-01-01 Sangiuolo, Fc; De Santis, L; Cavicchini, A; Angeloni, U; Romanini, C; Novelli, G; Dallapiccola, B
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family
2018-01-01 Maroofian, R; Murdocca, M; Rezaei-Delui, H; Nekooei, A; Mojarad, M; Sangiuolo, F; Novelli, G; Superti-Furga, A; D'Apice, Mr
A perturbed MicroRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA)
2015-01-01 Luchetti, A; Ciafre', Sa; Murdocca, M; Malgieri, A; Masotti, A; Sanchez, M; Farace, Mg; Novelli, G; Sangiuolo, Fc
A pilot beta-thalassaemia screening program in the Albanian population for a health planning program
2009-01-01 Baghernajad Salehi, L; D'Apice, M; Babameto Laku, A; Biancolella, M; Mitre, A; Russo, S; DI DANIELE, N; Sangiuolo, Fc; Mokini, V; Novelli, G
A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation
2017-01-01 Capuano, R; Spitalieri, P; Talarico, R; Domakoski, Ac; Catini, A; Paolesse, R; Martinelli, E; Novelli, G; Sangiuolo, Fc; DI NATALE, C
A rare but fatal behçet variant: the hughes–stovin syndrome—successful case report and new evidence from literature review
2024-01-01 ASCOLI MARCHETTI, A; Belvivere, L; Argirò, R; Kroegler, B; Oddi, Fm; Pennetta, F; DE GIORGI, A; Fazzini, S; Morosetti, D; Triggianese, P; Greco, E; D'Antonio, A; Coccia, I; Tesauro, M; Sangiuolo, F; Ippoliti, A
A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis
1991-04-01 Sangiuolo, Fc; Novelli, G; Murru, S; Dallapiccola, B
AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1
2018-01-01 Dinarelli, S; Girasole, M; Spitalieri, P; Talarico, Rv; Murdocca, M; Botta, A; Novelli, G; Mango, R; Sangiuolo, F; Longo, G
An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
2020-01-01 Daneshjoo, O; Salehi, L; Pizzuti, A; Novelli, G; Sangiuolo, F
Analysis of 14 cystic fibrosis mutations in five south European populations
1991-10-01 Nunes, V; Gasparini, P; Novelli, G; Gaona, A; Bonizzato, A; Sangiuolo, Fc; Balassopoulou, A; Giménez, F; Dognini, M; Ravnik Glavac, M
Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies
2003-09-01 Amati, F; Condo', I; Conti, E; Sangiuolo, Fc; Dallapiccola, B; Testi, R; Novelli, G
Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population
1995-01-01 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
Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery
2020-01-01 De Masi, C; Spitalieri, P; Murdocca, M; Novelli, G; Sangiuolo, F
Application of Next Generation Sequencing for personalized medicine for sudden cardiac death
2015-01-01 Morini, E; Sangiuolo, Fc; Caporossi, D; Novelli, G; Amati, F
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing
2018-01-01 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
| 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-gen-2024 | A rare but fatal behçet variant: the hughes–stovin syndrome—successful case report and new evidence from literature review | ASCOLI MARCHETTI, A; Belvivere, L; Argirò, R; Kroegler, B; Oddi, Fm; Pennetta, F; DE GIORGI, A; Fazzini, S; Morosetti, D; Triggianese, P; Greco, E; D'Antonio, A; Coccia, I; Tesauro, M; Sangiuolo, F; Ippoliti, A | 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 |