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
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
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
Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization
1996-01-01 Colosimo, A; Calabrese, G; Gennarelli, M; Ruzzo, A; Sangiuolo, Fc; Magnani, M; Palka, G; Novelli, G; Dallapiccola, B
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
2018-01-01 Brancati, F; Camerota, L; Colao, E; Vega-Warner, V; Zhao, X; Zhang, R; Bottillo, I; Castori, M; Caglioti, A; Sangiuolo, F; Novelli, G; Perrotti, N; Otto, Ea; Taruscio, D; Salvatore, M; De Stefano, Mc; Censi, F; Floridia, G; Brancati, F; Daina, E; Iatropoulos, P; Ferlini, A; Roccatello, D; Neri, M; Menegatti, E; Bembi, B
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency
2004-04-01 Sangiuolo, Fc; Magnani, M; Stambolian, D; Novelli, G
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis
2020-01-01 Nappo, S; Mannucci, L; Novelli, G; Sangiuolo, F; D'Apice, M; Botta, A
Cellular genetic therapy
2005-01-01 Del Vecchio, F; Filareto, A; Spitalieri, P; Sangiuolo, Fc; Novelli, G
Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene
1999-02-01 Serafino, A; Novelli, G; Di Sario, S; Colosimo, A; Amicucci, P; Sangiuolo, Fc; Mossa, G; Dallapiccola, B
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene
2015-01-01 Garaci, F; Marsili, L; Riant, F; Marziali, S; Cécillon, M; Pasquarelli, R; Sangiuolo, Fc; Floris, R; Novelli, G; Tournier Lasserve, E; Brancati, F
Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR)
2008-01-01 Sangiuolo, Fc; Scaldaferri, M; Filareto, A; Spitalieri, P; Guerra, L; Favia, M; Caroppo, R; Mango, R; Bruscia, E; Gruenert, D; Casavola, V; DE FELICI, M; Novelli, G
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
2000-03-01 By:dork, T; Macek, M; Mekus, F; Tummler, B; Tzountzouris, J; Casals, T; Krebsova, A; Koudova, M; Sakmaryova, I; Macek, M; Vavrova, V; Zemkova, D; Ginter, E; Petrova, N; Ivaschenko, T; Baranov, V; Witt, M; Pogorzelski, A; Bal, J; Zekanowsky, C; Wagner, K; Stuhrmann, M; Bauer, I; Seydewitz, H; Neumann, T; Jakubiczka, S; Kraus, C; Thamm, B; Nechiporenko, M; Livshits, L; Mosse, N; Tsukerman, G; Kadasi, L; Ravnik Glavac, M; Glavac, D; Komel, R; Vouk, K; Kucinskas, V; Krumina, A; Teder, M; Kocheva, S; Efremov, G; Onay, T; Kirdar, B; Malone, G; Schwarz, M; Zhou, Z; Friedman, K; Carles, S; Claustres, M; Bozon, D; Verlingue, C; Ferec, C; Tzetis, M; Kanavakis, E; Cuppens, H; Bombieri, C; Pignatti, P; Sangiuolo, Fc; Jordanova, A; Kusic, J; Radojkovic, D; Sertic, J; Richter, D; Rukavina, A; Bjorck, E; Strandvik, B; Cardoso, H; Montgomery, M; Nakielna, B; Hughes, D; Estivill, X; Aznarez, I; Tullis, E; Tsui, L; Zielenski, J
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1
2016-06-23 Nuovo, S; Passeri, M; Di Benedetto, E; Calanchini, M; Meldolesi, I; Di Giacomo, M; Petruzzi, D; Piemontese, M; Zelante, L; Sangiuolo, Fc; Novelli, G; Fabbri, A; Brancati, F
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene
2018-01-01 Fiorillo, C; D'Apice, Mr; Trucco, F; Murdocca, M; Spitalieri, P; Assereto, S; Baratto, S; Morcaldi, G; Minetti, C; Sangiuolo, F; Novelli, G
| 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-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-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 | |
| 1-gen-2018 | Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome | Brancati, F; Camerota, L; Colao, E; Vega-Warner, V; Zhao, X; Zhang, R; Bottillo, I; Castori, M; Caglioti, A; Sangiuolo, F; Novelli, G; Perrotti, N; Otto, Ea; Taruscio, D; Salvatore, M; De Stefano, Mc; Censi, F; Floridia, G; Brancati, F; Daina, E; Iatropoulos, P; Ferlini, A; Roccatello, D; Neri, M; Menegatti, E; Bembi, B | Articolo su rivista | |
| 1-apr-2004 | Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency | Sangiuolo, Fc; Magnani, M; Stambolian, D; Novelli, G | Articolo su rivista | |
| 1-gen-2020 | Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis | Nappo, S; Mannucci, L; Novelli, G; Sangiuolo, F; D'Apice, M; Botta, A | Articolo su rivista | |
| 1-gen-2005 | Cellular genetic therapy | Del Vecchio, F; Filareto, A; Spitalieri, P; Sangiuolo, Fc; Novelli, G | Articolo su rivista | |
| 1-feb-1999 | Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene | Serafino, A; Novelli, G; Di Sario, S; Colosimo, A; Amicucci, P; Sangiuolo, Fc; Mossa, G; Dallapiccola, B | Articolo su rivista | |
| 1-gen-2015 | Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene | Garaci, F; Marsili, L; Riant, F; Marziali, S; Cécillon, M; Pasquarelli, R; Sangiuolo, Fc; Floris, R; Novelli, G; Tournier Lasserve, E; Brancati, F | Articolo su rivista | |
| 1-gen-2008 | Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR) | Sangiuolo, Fc; Scaldaferri, M; Filareto, A; Spitalieri, P; Guerra, L; Favia, M; Caroppo, R; Mango, R; Bruscia, E; Gruenert, D; Casavola, V; DE FELICI, M; Novelli, G | Articolo su rivista | |
| 1-mar-2000 | Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe | By:dork, T; Macek, M; Mekus, F; Tummler, B; Tzountzouris, J; Casals, T; Krebsova, A; Koudova, M; Sakmaryova, I; Macek, M; Vavrova, V; Zemkova, D; Ginter, E; Petrova, N; Ivaschenko, T; Baranov, V; Witt, M; Pogorzelski, A; Bal, J; Zekanowsky, C; Wagner, K; Stuhrmann, M; Bauer, I; Seydewitz, H; Neumann, T; Jakubiczka, S; Kraus, C; Thamm, B; Nechiporenko, M; Livshits, L; Mosse, N; Tsukerman, G; Kadasi, L; Ravnik Glavac, M; Glavac, D; Komel, R; Vouk, K; Kucinskas, V; Krumina, A; Teder, M; Kocheva, S; Efremov, G; Onay, T; Kirdar, B; Malone, G; Schwarz, M; Zhou, Z; Friedman, K; Carles, S; Claustres, M; Bozon, D; Verlingue, C; Ferec, C; Tzetis, M; Kanavakis, E; Cuppens, H; Bombieri, C; Pignatti, P; Sangiuolo, Fc; Jordanova, A; Kusic, J; Radojkovic, D; Sertic, J; Richter, D; Rukavina, A; Bjorck, E; Strandvik, B; Cardoso, H; Montgomery, M; Nakielna, B; Hughes, D; Estivill, X; Aznarez, I; Tullis, E; Tsui, L; Zielenski, J | Articolo su rivista | |
| 23-giu-2016 | Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 | Nuovo, S; Passeri, M; Di Benedetto, E; Calanchini, M; Meldolesi, I; Di Giacomo, M; Petruzzi, D; Piemontese, M; Zelante, L; Sangiuolo, Fc; Novelli, G; Fabbri, A; Brancati, F | 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 |