TRABANELLI, Cecilia
TRABANELLI, Cecilia
Dipartimento di Scienze mediche
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
2008 Bovolenta, Matteo; Neri, Marcella; Fini, Sergio; Fabris, Marina; Trabanelli, Cecilia; Venturoli, A; Martoni, Elena; Bassi, Elena; Spitali, Pietro; Brioschi, Simona; Falzarano, Maria Sofia; Rimessi, Paola; Ciccone, R; Ashton, E; Mccauley, J; Yau, S; Abbs, S; Muntoni, F; Merlini, Luciano; Gualandi, Francesca; Ferlini, Alessandra
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation
file con accesso da definire2013 Neri, Marcella; Selvatici, Rita; Scotton, Chiara; Trabanelli, Cecilia; Armaroli, Annarita; De Grandis, D.; Levy, N.; Gualandi, Francesca; Ferlini, Alessandra
Antiangiogenic, antitumoural and antimetastatic effects of two distamycin A derivatives with anti-HIV-1 Tat activity in a Kaposi's sarcoma-like murine model
file con accesso da definire1999 Possati, L; Campioni, Diana; Sola, F; Leone, L; Ferrante, L; Trabanelli, Cecilia; Ciomei, M; Montesi, M; Rocchetti, R; Talevi, S; Bompadre, S; Caputo, Antonella; BARBANTI BRODANO, Giuseppe; Corallini, Alfredo
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript
file con accesso da definire2016 Todeschini, Alice; Gualandi, Francesca; Trabanelli, Cecilia; Armaroli, Annarita; Ravani, Anna; Fanin, Marina; Rota, Silvia; Bello, Luca; Ferlini, Alessandra; Pegoraro, Elena; Padovani, Alessandro; Filosto, Massimiliano
Characterization of a 4-Mb region at chromosome 6q21 harboring a replicative senescence gene
file con accesso da definire1997 Morelli, Cristina; Sherratt, T.; Trabanelli, Cecilia; Rimessi, Paola; Gualandi, Francesca; Greaves, M. J.; Negrini, Massimo; Boyle, J. M.; BARBANTI BRODANO, Giuseppe
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report
file con accesso da definire2013 Martoni, Elena; Petrini, S; Trabanelli, Cecilia; Sabatelli, Patrizia; Urciuolo, A; Selvatici, Rita; D'Amico, Antonio; Falzarano, Maria Sofia; Bertini, E; Bonaldo, P; Ferlini, Alessandra; Gualandi, Francesca
Chromosomal aberrations induced by BK virus T antigen in human fibroblasts
file con accesso da definire1998 Trabanelli, Cecilia; Corallini, Alfredo; Gruppioni, R; Sensi, Alberto; Bonfatti, A; Campioni, Diana; Merlin, M; Calza, N; Possati, L; BARBANTI BRODANO, Giuseppe
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories
file con accesso da definire2006 Ferlini, Alessandra; Ravani, A; Venturoli, A; Trabanelli, Cecilia; Masieri, Mt; Brandi, A; Dolcini, B; Rimessi, Paola; Gualandi, Francesca; Calzolari, Elisa
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.
file con accesso da definire2014 F., Tagliavini; C., Pellegrini; F., Sardone; S., Squarzoni; M., Paulsson; R., Wagener; Gualandi, Francesca; Trabanelli, Cecilia; Ferlini, Alessandra; Merlini, Luciano; S., Santi; Nm, Maraldi; C., Faldini; Sabatelli, Patrizia
DMD gene molecular genetic characterization in Eastern Europe and non European countries
2019 Selvatici, R; Trabanelli, C; Buldrini, B; Fini, S; Gualandi, F; Rimessi, P ); Neri, M; Fortunato, F; Potulska, A; Emandi, A; Lehman, I; Herczegfalvi, A; Guergueltcheva, V; Kyriakides, T; Sifi, Y; Molnar, M; Burnyte, B; Shatillo, A; Vlodavets, D; Ferlini, A
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
2021 Selvatici, Rita; Rossi, Rachele; Fortunato, Fernanda; Trabanelli, Cecilia; Sifi, Yamina; Margutti, Alice; Neri, Marcella; Gualandi, Francesca; Szabò, Lena; Fekete, Balint; Angelova, Lyudmilla; Litvinenko, Ivan; Ivanov, Ivan; Vildan, Yurtsever; Iuhas, Oana Alexandra; Vintan, Mihaela; Burloiu, Carmen; Lacramioara, Butnariu; Visa, Gabriela; Epure, Diana; Rusu, Cristina; Vasile, Daniela; Sandu, Magdalena; Vlodavets, Dmitry; Mager, Monica; Kyriakides, Theodore; Delin, Sanja; Lehman, Ivan; Fureš, Jadranka Sekelj; Bojinova, Veneta; Militaru, Mariela; Guergueltcheva, Velina; Burnyte, Birute; Molnar, Maria Judith; Butoianu, Niculina; Bensemmane, Selma Dounia; Makri-Mokrane, Samira; Herczegfalvi, Agnes; Panzaru, Monica; Emandi, Adela Chirita; Lusakowska, Anna; Potulska-Chromik, Anna; Kostera-Pruszczyk, Anna; Shatillo, Andriy; Khelladi, Djawed Bouchenak; Dendane, Oussama; Fang, Mingyan; Lu, Zhiyuan; Ferlini, Alessandra
Exon skipping-mediated dystrophin reading frame restoration for small mutations
2009 Spitali, Pietro; Rimessi, Paola; Fabris, Marina; Perrone, Daniela; Falzarano, Maria Sofia; Bovolenta, Matteo; Trabanelli, Cecilia; Mari, Lara; Bassi, Elena; Tuffery, S.; Gualandi, Francesca; Maraldi, N. M.; Sabatelli Giraud, P.; Medici, Alessandro; Merlini, Luciano; Ferlini, Alessandra
Exploring the clinical and epidemiological complexity of GJB2-linked deafness.
file con accesso da definire2002 Gualandi, Francesca; Ravani, A; Berto, Anna; Sensi, Alberto; Trabanelli, Cecilia; Falciano, Francesco; Trevisi, Patrizia; Mazzoli, M; Tibiletti, Mg; Cristofari, E; Burdo, S; Ferlini, Alessandra; Martini, Alessandro; Calzolari, Elisa
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies
2007 Gualandi, Francesca; Rimessi, Paola; Fini, Sergio; Trabanelli, Cecilia; Venturoli, A; Martoni, Elena; Bovolenta, Matteo; Spitali, Pietro; Fabris, Marina; Merlini, Luciano; Calzolari, Elisa; Ferlini, Alessandra
Genetic analysis of a 6q21 region harboring a senescence gene: construction of a 4 megabase yeast artificial chromosome contig
file con accesso da definire1996 Morelli, Cristina; Sherratt, T.; Greaves, M. J.; Iwanejko, L.; Trabanelli, Cecilia; Rimessi, Paola; Gualandi, Francesca; Negrini, Massimo; BARBANTI BRODANO, Giuseppe; Trent, J. M.; Boyle, J. M.
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE
file con accesso da definire2015 Selvatici, Rita; Rimessi, Paola; Trabanelli, Cecilia; Venturoli, A.; Dolcini, B.; Fabris, Marina; Taddei Masieri, M.; Gualandi, Francesca; Ferlini, Alessandra; Ravani, Anna
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies
file con accesso da definire2018 Selvatici, R.; Trabanelli, C.; Rossi, R.; Fini, S.; Rimessi, P.; Gualandi, F.; Ferlini, A.
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene
file con accesso da definire2006 Gualandi, Francesca; Rimessi, Paola; Trabanelli, Cecilia; Spitali, Pietro; Neri, Marcella; Patarnello, T; Angelini, C; Yau, Sc; Abbs, S; Muntoni, F; Calzolari, Elisa; Ferlini, Alessandra
Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies
2020 Armaroli, Annarita; Balla, Cristina; Trabanelli, Cecilia; Selvatici, Rita; Brieda, Alessandro; Sette, Elisabetta; Bertini, Matteo; Mele, Donato; Biffi, Mauro; Campo, Gianluca Calogero; Ferrari, Roberto; Ferlini, Alessandra; Gualandi, Francesca
Left ventricular myocardial noncompaction with advanced atrioventricular conduction disorder and ventricular arrhythmias in a young patient: Role of MIB1 gene
2021 Balla, C.; De Raffele, M.; Deserio, M. A.; Sanchini, M.; Farnè, M.; Trabanelli, C.; Ragni, L.; Biffi, M.; Ferlini, A.; Rapezzi, C.; Gualandi, F.; Bertini, M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies | 2008 | Bovolenta, Matteo; Neri, Marcella; Fini, Sergio; Fabris, Marina; Trabanelli, Cecilia; Venturoli, ...A; Martoni, Elena; Bassi, Elena; Spitali, Pietro; Brioschi, Simona; Falzarano, Maria Sofia; Rimessi, Paola; Ciccone, R; Ashton, E; Mccauley, J; Yau, S; Abbs, S; Muntoni, F; Merlini, Luciano; Gualandi, Francesca; Ferlini, Alessandra | |
| A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation | 2013 | Neri, Marcella; Selvatici, Rita; Scotton, Chiara; Trabanelli, Cecilia; Armaroli, Annarita; De Gra...ndis, D.; Levy, N.; Gualandi, Francesca; Ferlini, Alessandra | file con accesso da definire |
| Antiangiogenic, antitumoural and antimetastatic effects of two distamycin A derivatives with anti-HIV-1 Tat activity in a Kaposi's sarcoma-like murine model | 1999 | Possati, L; Campioni, Diana; Sola, F; Leone, L; Ferrante, L; Trabanelli, Cecilia; Ciomei, M; Mont...esi, M; Rocchetti, R; Talevi, S; Bompadre, S; Caputo, Antonella; BARBANTI BRODANO, Giuseppe; Corallini, Alfredo | file con accesso da definire |
| Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript | 2016 | Todeschini, Alice; Gualandi, Francesca; Trabanelli, Cecilia; Armaroli, Annarita; Ravani, Anna; Fa...nin, Marina; Rota, Silvia; Bello, Luca; Ferlini, Alessandra; Pegoraro, Elena; Padovani, Alessandro; Filosto, Massimiliano | file con accesso da definire |
| Characterization of a 4-Mb region at chromosome 6q21 harboring a replicative senescence gene | 1997 | Morelli, Cristina; Sherratt, T.; Trabanelli, Cecilia; Rimessi, Paola; Gualandi, Francesca; Greave...s, M. J.; Negrini, Massimo; Boyle, J. M.; BARBANTI BRODANO, Giuseppe | file con accesso da definire |
| Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report | 2013 | Martoni, Elena; Petrini, S; Trabanelli, Cecilia; Sabatelli, Patrizia; Urciuolo, A; Selvatici, Rit...a; D'Amico, Antonio; Falzarano, Maria Sofia; Bertini, E; Bonaldo, P; Ferlini, Alessandra; Gualandi, Francesca | file con accesso da definire |
| Chromosomal aberrations induced by BK virus T antigen in human fibroblasts | 1998 | Trabanelli, Cecilia; Corallini, Alfredo; Gruppioni, R; Sensi, Alberto; Bonfatti, A; Campioni, Dia...na; Merlin, M; Calza, N; Possati, L; BARBANTI BRODANO, Giuseppe | file con accesso da definire |
| Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories | 2006 | Ferlini, Alessandra; Ravani, A; Venturoli, A; Trabanelli, Cecilia; Masieri, Mt; Brandi, A; Dolcin...i, B; Rimessi, Paola; Gualandi, Francesca; Calzolari, Elisa | file con accesso da definire |
| Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. | 2014 | F., Tagliavini; C., Pellegrini; F., Sardone; S., Squarzoni; M., Paulsson; R., Wagener; Gualandi, ...Francesca; Trabanelli, Cecilia; Ferlini, Alessandra; Merlini, Luciano; S., Santi; Nm, Maraldi; C., Faldini; Sabatelli, Patrizia | file con accesso da definire |
| DMD gene molecular genetic characterization in Eastern Europe and non European countries | 2019 | Selvatici, R; Trabanelli, C; Buldrini, B; Fini, S; Gualandi, F; Rimessi, P ); Neri, M; Fortunato,... F; Potulska, A; Emandi, A; Lehman, I; Herczegfalvi, A; Guergueltcheva, V; Kyriakides, T; Sifi, Y; Molnar, M; Burnyte, B; Shatillo, A; Vlodavets, D; Ferlini, A | |
| Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries | 2021 | Selvatici, Rita; Rossi, Rachele; Fortunato, Fernanda; Trabanelli, Cecilia; Sifi, Yamina; Margutti..., Alice; Neri, Marcella; Gualandi, Francesca; Szabò, Lena; Fekete, Balint; Angelova, Lyudmilla; Litvinenko, Ivan; Ivanov, Ivan; Vildan, Yurtsever; Iuhas, Oana Alexandra; Vintan, Mihaela; Burloiu, Carmen; Lacramioara, Butnariu; Visa, Gabriela; Epure, Diana; Rusu, Cristina; Vasile, Daniela; Sandu, Magdalena; Vlodavets, Dmitry; Mager, Monica; Kyriakides, Theodore; Delin, Sanja; Lehman, Ivan; Fureš, Jadranka Sekelj; Bojinova, Veneta; Militaru, Mariela; Guergueltcheva, Velina; Burnyte, Birute; Molnar, Maria Judith; Butoianu, Niculina; Bensemmane, Selma Dounia; Makri-Mokrane, Samira; Herczegfalvi, Agnes; Panzaru, Monica; Emandi, Adela Chirita; Lusakowska, Anna; Potulska-Chromik, Anna; Kostera-Pruszczyk, Anna; Shatillo, Andriy; Khelladi, Djawed Bouchenak; Dendane, Oussama; Fang, Mingyan; Lu, Zhiyuan; Ferlini, Alessandra | |
| Exon skipping-mediated dystrophin reading frame restoration for small mutations | 2009 | Spitali, Pietro; Rimessi, Paola; Fabris, Marina; Perrone, Daniela; Falzarano, Maria Sofia; Bovole...nta, Matteo; Trabanelli, Cecilia; Mari, Lara; Bassi, Elena; Tuffery, S.; Gualandi, Francesca; Maraldi, N. M.; Sabatelli Giraud, P.; Medici, Alessandro; Merlini, Luciano; Ferlini, Alessandra | |
| Exploring the clinical and epidemiological complexity of GJB2-linked deafness. | 2002 | Gualandi, Francesca; Ravani, A; Berto, Anna; Sensi, Alberto; Trabanelli, Cecilia; Falciano, Franc...esco; Trevisi, Patrizia; Mazzoli, M; Tibiletti, Mg; Cristofari, E; Burdo, S; Ferlini, Alessandra; Martini, Alessandro; Calzolari, Elisa | file con accesso da definire |
| G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies | 2007 | Gualandi, Francesca; Rimessi, Paola; Fini, Sergio; Trabanelli, Cecilia; Venturoli, A; Martoni, El...ena; Bovolenta, Matteo; Spitali, Pietro; Fabris, Marina; Merlini, Luciano; Calzolari, Elisa; Ferlini, Alessandra | |
| Genetic analysis of a 6q21 region harboring a senescence gene: construction of a 4 megabase yeast artificial chromosome contig | 1996 | Morelli, Cristina; Sherratt, T.; Greaves, M. J.; Iwanejko, L.; Trabanelli, Cecilia; Rimessi, Paol...a; Gualandi, Francesca; Negrini, Massimo; BARBANTI BRODANO, Giuseppe; Trent, J. M.; Boyle, J. M. | file con accesso da definire |
| GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE | 2015 | Selvatici, Rita; Rimessi, Paola; Trabanelli, Cecilia; Venturoli, A.; Dolcini, B.; Fabris, Marina;... Taddei Masieri, M.; Gualandi, Francesca; Ferlini, Alessandra; Ravani, Anna | file con accesso da definire |
| International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies | 2018 | Selvatici, R.; Trabanelli, C.; Rossi, R.; Fini, S.; Rimessi, P.; Gualandi, F.; Ferlini, A. | file con accesso da definire |
| Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene | 2006 | Gualandi, Francesca; Rimessi, Paola; Trabanelli, Cecilia; Spitali, Pietro; Neri, Marcella; Patarn...ello, T; Angelini, C; Yau, Sc; Abbs, S; Muntoni, F; Calzolari, Elisa; Ferlini, Alessandra | file con accesso da definire |
| Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies | 2020 | Armaroli, Annarita; Balla, Cristina; Trabanelli, Cecilia; Selvatici, Rita; Brieda, Alessandro; Se...tte, Elisabetta; Bertini, Matteo; Mele, Donato; Biffi, Mauro; Campo, Gianluca Calogero; Ferrari, Roberto; Ferlini, Alessandra; Gualandi, Francesca | |
| Left ventricular myocardial noncompaction with advanced atrioventricular conduction disorder and ventricular arrhythmias in a young patient: Role of MIB1 gene | 2021 | Balla, C.; De Raffele, M.; Deserio, M. A.; Sanchini, M.; Farnè, M.; Trabanelli, C.; Ragni, L.; Bi...ffi, M.; Ferlini, A.; Rapezzi, C.; Gualandi, F.; Bertini, M. |