FINI, Sergio
FINI, Sergio
Dipartimento di Scienze mediche
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature
2018 Parmeggiani, G.; Buldrini, B.; Fini, S.; Ferlini, A.; Bigoni, S.
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
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders.
file con accesso da definire1995 Ferlini, Alessandra; Patrosso, Mc; Guidetti, D; Merlini, Luciano; Uncini, A; Ragno, M; Plasmati, R; Fini, Sergio; Repetto, M; Vezzoni, P.
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
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay
2018 Parmeggiani, Giulia; Bigoni, Stefania; Buldrini, Barbara; Garani, Giampaolo; Clauser, Luigi; Galiè, Manilo; Ferlini, Alessandra; Fini, Sergio
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 counseling for women referred for advanced maternal age: a telegenetic approach
file con accesso da definire2014 Gualandi, Francesca; Bigoni, Stefania; L., Melchiorri; B., Buldrini; A., Balboni; Neri, Marcella; Armaroli, Annarita; Parmeggiani, Giulia; Italyankina, Eleonora; Mauro, Antonio; Ravani, Anna; Fini, Sergio; Caracciolo, Stefano; Ferlini, Alessandra
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.
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype
file con accesso da definire2022 Farnè, Marianna; Bernardini, Laura; Capalbo, Anna; Cavarretta, Giusy; Torres, Barbara; Sanchini, Mariabeatrice; Fini, Sergio; Ferlini, Alessandra; Bigoni, Stefania
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome
file con accesso da definire2017 Gualandi, Francesca; Zaraket, Fatima; Malagù, Michele; Parmeggiani, Giulia; Trabanelli, Cecilia; Fini, Sergio; Dang, Xiao; Wei, Xiaoming; Fang, Mingyan; Bertini, Matteo; Ferrari, Roberto; Ferlini, Alessandra
Transcriptional behavior of DMD gene duplications in DMD/BMD males
file con accesso da definire2009 Gualandi, Francesca; Neri, Marcella; Bovolenta, Matteo; Martoni, Elena; Rimessi, Paola; Fini, Sergio; Spitali, Pietro; Fabris, Marina; Pane, M; Angelini, C; Mora, M; Morandi, L; Mongini, T; Bertini, E; Ricci, E; Vattemi, G; Mercuri, E; Merlini, Luciano; Ferlini, Alessandra
Workload measurement for molecular genetics laboratory: A survey study
2018 Tagliafico, E.; Bernardis, I.; Grasso, M.; D'Apice, M. R.; Lapucci, C.; Botta, A.; Giachino, D. F.; Marinelli, M.; Primignani, P.; Russo, S.; Sani, I.; Seia, M.; Fini, S.; Rimessi, P.; Tenedini, Elena; Ravani, A.; Genuardi, M.; Ferlini, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature | 2018 | Parmeggiani, G.; Buldrini, B.; Fini, S.; Ferlini, A.; Bigoni, S. | |
| 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 | |
| Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders. | 1995 | Ferlini, Alessandra; Patrosso, Mc; Guidetti, D; Merlini, Luciano; Uncini, A; Ragno, M; Plasmati, ...R; Fini, Sergio; Repetto, M; Vezzoni, P. | 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 | |
| Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay | 2018 | Parmeggiani, Giulia; Bigoni, Stefania; Buldrini, Barbara; Garani, Giampaolo; Clauser, Luigi; Gali...è, Manilo; Ferlini, Alessandra; Fini, Sergio | |
| 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 counseling for women referred for advanced maternal age: a telegenetic approach | 2014 | Gualandi, Francesca; Bigoni, Stefania; L., Melchiorri; B., Buldrini; A., Balboni; Neri, Marcella;... Armaroli, Annarita; Parmeggiani, Giulia; Italyankina, Eleonora; Mauro, Antonio; Ravani, Anna; Fini, Sergio; Caracciolo, Stefano; Ferlini, Alessandra | 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 |
| Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype | 2022 | Farnè, Marianna; Bernardini, Laura; Capalbo, Anna; Cavarretta, Giusy; Torres, Barbara; Sanchini, ...Mariabeatrice; Fini, Sergio; Ferlini, Alessandra; Bigoni, Stefania | file con accesso da definire |
| Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome | 2017 | Gualandi, Francesca; Zaraket, Fatima; Malagù, Michele; Parmeggiani, Giulia; Trabanelli, Cecilia; ...Fini, Sergio; Dang, Xiao; Wei, Xiaoming; Fang, Mingyan; Bertini, Matteo; Ferrari, Roberto; Ferlini, Alessandra | file con accesso da definire |
| Transcriptional behavior of DMD gene duplications in DMD/BMD males | 2009 | Gualandi, Francesca; Neri, Marcella; Bovolenta, Matteo; Martoni, Elena; Rimessi, Paola; Fini, Ser...gio; Spitali, Pietro; Fabris, Marina; Pane, M; Angelini, C; Mora, M; Morandi, L; Mongini, T; Bertini, E; Ricci, E; Vattemi, G; Mercuri, E; Merlini, Luciano; Ferlini, Alessandra | file con accesso da definire |
| Workload measurement for molecular genetics laboratory: A survey study | 2018 | Tagliafico, E.; Bernardis, I.; Grasso, M.; D'Apice, M. R.; Lapucci, C.; Botta, A.; Giachino, D. F....; Marinelli, M.; Primignani, P.; Russo, S.; Sani, I.; Seia, M.; Fini, S.; Rimessi, P.; Tenedini, Elena; Ravani, A.; Genuardi, M.; Ferlini, A. |