BIGONI, Stefania
BIGONI, Stefania
A Family with γ-Thalassemia and High Hb A2 Levels
file con accesso da definire2016 Parmeggiani, Giulia; Gualandi, Francesca; Selvatici, Rita; Rimessi, Paola; Bigoni, Stefania; Masieri, Marina Taddei; Dolcini, Bernadetta; Venturoli, Anna; Cappabianca, Maria P.; Ferlini, Alessandra; Ravani, Anna
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.
Angelman, Angelman-like, Angelman EEG-like
file con accesso da definire2018 Pellino, G.; Bulian, A.; Forest, C.; Bigoni, S.; Fiumana, E.; Faggioli, R.
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
2021 Vetro, Annalisa; Nielsen, Hang N; Holm, Rikke; Hevner, Robert F; Parrini, Elena; Powis, Zoe; Møller, Rikke S; Bellan, Cristina; Simonati, Alessandro; Lesca, Gaétan; Helbig, Katherine L; Palmer, Elizabeth E; Mei, Davide; Ballardini, Elisa; Haeringen, Arie Van; Syrbe, Steffen; Leuzzi, Vincenzo; Cioni, Giovanni; Curry, Cynthia J; Costain, Gregory; Santucci, Margherita; Chong, Karen; Mancini, Grazia M S; Clayton-Smith, Jill; A-Collaborators, Atp A/; Bigoni, Stefania; Scheffer, Ingrid E; Dobyns, William B; Vilsen, Bente; Guerrini, Renzo
Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome
2023 Musumano, Lucia Belen; Fancello, Virginia; Negossi, Laura; Ballardini, Elisa; Bigoni, Stefania; Ciorba, Andrea
Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome
file con accesso da definire2018 Bigoni, Stefania; Mauro, Antonio; Ferlini, Alessandra; Corazzi, Virginia; Ciorba, Andrea; Aimoni, Claudia
Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?
file con accesso da definire2022 Aliberti, L.; Gagliardi, I.; Bigoni, S.; Lupo, S.; Caracciolo, S.; Ferlini, A.; Isidori, A. M.; Zatelli, M. C.; Ambrosio, M. R.
Dalla neonata alla madre: diagnosi di distrofia miotonica
file con accesso da definire2011 A., Tarocco; Ballardini, Elisa; Bigoni, Stefania; Donati, Ilaria; G., Novelli; M., Belgala; Garani, Giampaolo
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
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
file con accesso da definire2004 Fichera, M; LO GIUDICE, M; Falco, M; Sturnio, M; Amata, S; Calabrese, O; Bigoni, Stefania; Calzolari, E; Neri, Marcella
Expanding CEP290 mutational spectrumin ciliopathies
file con accesso da definire2009 Travaglini, L; Brancati, F; Attie Bitach, T; Audollent, S; Bertini, E; Kaplan, J; Perrault, I; Iannicelli, M; Mancuso, B; Rigoli, L; Rozet, Jm; Swistun, D; Tolentino, J; Dallapiccola, B; Gleeson, Jg; Valente, Em; International JSRD Study, Group; Zankl, A; Leventer, R; Grattan Smith, P; Janecke, A; D'Hooghe, M; Sznajer, Y; Van Coster, R; Demerleir, L; Dias, K; Moco, C; Moreira, A; Kim, Ca; Maegawa, G; Petkovic, D; Abdel Salam, Gm; Abdel Aleem, A; Zaki, Ms; Marti, I; Quijano Roy, S; Sigaudy, S; de Lonlay, P; Romano, S; Touraine, R; Koenig, M; Lagier Tourenne, C; Messer, J; Collignon, P; Wolf, N; Philippi, H; Kitsiou Tzeli, S; Halldorsson, S; Johannsdottir, J; Ludvigsson, P; Phadke, Sr; Udani, V; Stuart, B; Magee, A; Lev, D; Michelson, M; Ben Zeev, B; Fischetto, R; Benedicenti, F; Stanzial, F; Borgatti, R; Accorsi, P; Battaglia, S; Fazzi, E; Giordano, L; Pinelli, L; Boccone, L; Bigoni, S; Ferlini, Alessandra; Donati, Ma; Caridi, G; Divizia, Mt; Faravelli, F; Ghiggeri, G; Pessagno, A; Briguglio, M; Briuglia, S; Salpietro, Cd; Tortorella, G; Adami, A; Castorina, P; Lalatta, F; Marra, G; Riva, D; Scelsa, B; Spaccini, L; Uziel, G; Del Giudice, E; Laverda, Am; Ludwig, K; Permunian, A; Suppiej, A; Signorini, S; Uggetti, C; Battini, R; Di Giacomo, M; Cilio, Mr; Di Sabato, Ml; Leuzzi, V; Parisi, P; Pollazzon, M; Silengo, M; De Vescovi, R; Greco, D; Romano, C; Cazzagon, M; Simonati, A; Al Tawari, Aa; Bastaki, L; Mégarbané, A; Sabolic Avramovska, V; de Jong, Mm; Stromme, P; Koul, R; Rajab, A; Azam, M; Barbot, C; Martorell Sampol, L; Rodriguez, B; Pascual Castroviejo, I; Teber, S; Anlar, B; Comu, S; Karaca, E; Kayserili, H; Yüksel, A; Akcakus, M; Al Gazali, L; Sztriha, L; Nicholl, D; Woods, Cg; Bennett, C; Hurst, J; Sheridan, E; Barnicoat, A; Hennekam, R; Lees, M; Blair, E; Bernes, S; Sanchez, H; Clark, Ae; Demarco, E; Donahue, C; Sherr, E; Hahn, J; Sanger, Td; Gallager, Te; Dobyns, Wb; Daugherty, C; Krishnamoorthy, Ks; Sarco, D; Walsh, Ca; Mckanna, T; Milisa, J; Chung, Wk; De Vivo, Dc; Raynes, H; Schubert, R; Seward, A; Brooks, Dg; Goldstein, A; Caldwell, J; Finsecke, E; Maria, Bl; Holden, K; Cruse, Rp; Swoboda, Kj; Viskochil, D.; Suppiej, Agnese
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
file con accesso da definire2017 Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani, Giulia; Wherlock, Matt; Woodward, Geoff; Greenslade, Mark; Williams, Maggie; St-Onge, Judith; Ferlini, Alessandra; Garani, Giampaolo; Ballardini, Elisa; Van Bon, Bregje W; Acuna-Hidalgo, Rocio; Bohring, Axel; Deleuze, Jean-François; Boland, Anne; Meyer, Vincent; Olaso, Robert; Ginglinger, Emmanuelle; Study, D. D. D.; Rivière, Jean-Baptiste; Brunner, Han G; Hoischen, Alexander; Newbury-Ecob, Ruth; Faivre, Laurence; Thauvin-Robinet, Christel; Thevenon, Julien
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype
2020 Cesca, Federica; Bettella, Elisa; Polli, Roberta; Leonardi, Emanuela; Cristina Aspromonte, Maria; Sicilian, Barbara; Stanzial, Franco; Benedicenti, Francesco; Sensi, Alberto; Ciorba, Andrea; Bigoni, Stefania; Cama, Elona; Scimemi, Pietro; Santarelli, Rosamaria; Murgia, 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
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family
2019 Bigoni, Stefania; Neri, Marcella; Scotton, Chiara; Farina, Roberto; Sabatelli, Patrizia; Jiang, Chongyi; Zhang, Jianguo; Falzarano, Maria Sofia; Rossi, Rachele; Ognibene, Davide; Selvatici, Rita; Gualandi, Francesca; Bosshardt, Dieter; Perri, Paolo; Campa, Claudio; Brancati, Francesco; Salvatore, Marco; De Stefano, Maria Chiara; Taruscio, Domenica; Trombelli, Leonardo; Fang, Mingyan; Ferlini, Alessandra
Identification of a new mutation in RSK2, the gene for coffin–lowry syndrome (CLS), in two related patients with mild and atypical phenotypes
2021 Di Stazio, Mariateresa; Bigoni, Stefania; Iuso, Nicola; Vuch, Josef; Selvatici, Rita; Ulivi, Sheila; Adamo d’Adamo, Pio
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
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
file con accesso da definire2001 Vacca, M; Filippini, F; Budillon, A; Rossi, V; DELLA RAGIONE, Floriana; DE BONIS, Ml; Mercadante, G; Manzati, Elisa; Gualandi, Francesca; Bigoni, Stefania; Trabanelli, C; Pini, G; Calzolari, Elisa; Ferlini, Alessandra; Meloni, I; Hayek, G; Zappella, M; Renieri, A; D'Urso, M; D'Esposito, M; Macdonald, F; Kerr, A; Dhanjal, S; Hulten, M.
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
file con accesso da definire2001 Vacca, M; Filippini, F; Budillon, A; Rossi, V; Mercadante, G; Manzati, Elisa; Gualandi, Francesca; Bigoni, Stefania; Trabanelli, Cecilia; Pini, G; Calzolari, Elisa; Ferlini, Alessandra; Meloni, I; Hayek, G; Zappella, M; Renieri, A; D'Urso, M; D'Esposito, M; Macdonald, F; Kerr, A; Dhanjal, S; Hulten, M.
Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation
2021 Ciorba, Andrea; Corazzi, Virginia; Melegatti, Michela Nicole; Morgan, Anna; Pelliccione, Giulia; Girotto, Giorgia; Bigoni, Stefania
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A Family with γ-Thalassemia and High Hb A2 Levels | 2016 | Parmeggiani, Giulia; Gualandi, Francesca; Selvatici, Rita; Rimessi, Paola; Bigoni, Stefania; Masi...eri, Marina Taddei; Dolcini, Bernadetta; Venturoli, Anna; Cappabianca, Maria P.; Ferlini, Alessandra; Ravani, Anna | file con accesso da definire |
| 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. | |
| Angelman, Angelman-like, Angelman EEG-like | 2018 | Pellino, G.; Bulian, A.; Forest, C.; Bigoni, S.; Fiumana, E.; Faggioli, R. | file con accesso da definire |
| ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria | 2021 | Vetro, Annalisa; Nielsen, Hang N; Holm, Rikke; Hevner, Robert F; Parrini, Elena; Powis, Zoe; Møll...er, Rikke S; Bellan, Cristina; Simonati, Alessandro; Lesca, Gaétan; Helbig, Katherine L; Palmer, Elizabeth E; Mei, Davide; Ballardini, Elisa; Haeringen, Arie Van; Syrbe, Steffen; Leuzzi, Vincenzo; Cioni, Giovanni; Curry, Cynthia J; Costain, Gregory; Santucci, Margherita; Chong, Karen; Mancini, Grazia M S; Clayton-Smith, Jill; A-Collaborators, Atp A/; Bigoni, Stefania; Scheffer, Ingrid E; Dobyns, William B; Vilsen, Bente; Guerrini, Renzo | |
| Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome | 2023 | Musumano, Lucia Belen; Fancello, Virginia; Negossi, Laura; Ballardini, Elisa; Bigoni, Stefania; C...iorba, Andrea | |
| Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome | 2018 | Bigoni, Stefania; Mauro, Antonio; Ferlini, Alessandra; Corazzi, Virginia; Ciorba, Andrea; Aimoni,... Claudia | file con accesso da definire |
| Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who? | 2022 | Aliberti, L.; Gagliardi, I.; Bigoni, S.; Lupo, S.; Caracciolo, S.; Ferlini, A.; Isidori, A. M.; Z...atelli, M. C.; Ambrosio, M. R. | file con accesso da definire |
| Dalla neonata alla madre: diagnosi di distrofia miotonica | 2011 | A., Tarocco; Ballardini, Elisa; Bigoni, Stefania; Donati, Ilaria; G., Novelli; M., Belgala; Garan...i, Giampaolo | file con accesso da definire |
| 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 | |
| Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia | 2004 | Fichera, M; LO GIUDICE, M; Falco, M; Sturnio, M; Amata, S; Calabrese, O; Bigoni, Stefania; Calzol...ari, E; Neri, Marcella | file con accesso da definire |
| Expanding CEP290 mutational spectrumin ciliopathies | 2009 | Travaglini, L; Brancati, F; Attie Bitach, T; Audollent, S; Bertini, E; Kaplan, J; Perrault, I; Ia...nnicelli, M; Mancuso, B; Rigoli, L; Rozet, Jm; Swistun, D; Tolentino, J; Dallapiccola, B; Gleeson, Jg; Valente, Em; International JSRD Study, Group; Zankl, A; Leventer, R; Grattan Smith, P; Janecke, A; D'Hooghe, M; Sznajer, Y; Van Coster, R; Demerleir, L; Dias, K; Moco, C; Moreira, A; Kim, Ca; Maegawa, G; Petkovic, D; Abdel Salam, Gm; Abdel Aleem, A; Zaki, Ms; Marti, I; Quijano Roy, S; Sigaudy, S; de Lonlay, P; Romano, S; Touraine, R; Koenig, M; Lagier Tourenne, C; Messer, J; Collignon, P; Wolf, N; Philippi, H; Kitsiou Tzeli, S; Halldorsson, S; Johannsdottir, J; Ludvigsson, P; Phadke, Sr; Udani, V; Stuart, B; Magee, A; Lev, D; Michelson, M; Ben Zeev, B; Fischetto, R; Benedicenti, F; Stanzial, F; Borgatti, R; Accorsi, P; Battaglia, S; Fazzi, E; Giordano, L; Pinelli, L; Boccone, L; Bigoni, S; Ferlini, Alessandra; Donati, Ma; Caridi, G; Divizia, Mt; Faravelli, F; Ghiggeri, G; Pessagno, A; Briguglio, M; Briuglia, S; Salpietro, Cd; Tortorella, G; Adami, A; Castorina, P; Lalatta, F; Marra, G; Riva, D; Scelsa, B; Spaccini, L; Uziel, G; Del Giudice, E; Laverda, Am; Ludwig, K; Permunian, A; Suppiej, A; Signorini, S; Uggetti, C; Battini, R; Di Giacomo, M; Cilio, Mr; Di Sabato, Ml; Leuzzi, V; Parisi, P; Pollazzon, M; Silengo, M; De Vescovi, R; Greco, D; Romano, C; Cazzagon, M; Simonati, A; Al Tawari, Aa; Bastaki, L; Mégarbané, A; Sabolic Avramovska, V; de Jong, Mm; Stromme, P; Koul, R; Rajab, A; Azam, M; Barbot, C; Martorell Sampol, L; Rodriguez, B; Pascual Castroviejo, I; Teber, S; Anlar, B; Comu, S; Karaca, E; Kayserili, H; Yüksel, A; Akcakus, M; Al Gazali, L; Sztriha, L; Nicholl, D; Woods, Cg; Bennett, C; Hurst, J; Sheridan, E; Barnicoat, A; Hennekam, R; Lees, M; Blair, E; Bernes, S; Sanchez, H; Clark, Ae; Demarco, E; Donahue, C; Sherr, E; Hahn, J; Sanger, Td; Gallager, Te; Dobyns, Wb; Daugherty, C; Krishnamoorthy, Ks; Sarco, D; Walsh, Ca; Mckanna, T; Milisa, J; Chung, Wk; De Vivo, Dc; Raynes, H; Schubert, R; Seward, A; Brooks, Dg; Goldstein, A; Caldwell, J; Finsecke, E; Maria, Bl; Holden, K; Cruse, Rp; Swoboda, Kj; Viskochil, D.; Suppiej, Agnese | file con accesso da definire |
| Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype | 2017 | Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani..., Giulia; Wherlock, Matt; Woodward, Geoff; Greenslade, Mark; Williams, Maggie; St-Onge, Judith; Ferlini, Alessandra; Garani, Giampaolo; Ballardini, Elisa; Van Bon, Bregje W; Acuna-Hidalgo, Rocio; Bohring, Axel; Deleuze, Jean-François; Boland, Anne; Meyer, Vincent; Olaso, Robert; Ginglinger, Emmanuelle; Study, D. D. D.; Rivière, Jean-Baptiste; Brunner, Han G; Hoischen, Alexander; Newbury-Ecob, Ruth; Faivre, Laurence; Thauvin-Robinet, Christel; Thevenon, Julien | file con accesso da definire |
| Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype | 2020 | Cesca, Federica; Bettella, Elisa; Polli, Roberta; Leonardi, Emanuela; Cristina Aspromonte, Maria;... Sicilian, Barbara; Stanzial, Franco; Benedicenti, Francesco; Sensi, Alberto; Ciorba, Andrea; Bigoni, Stefania; Cama, Elona; Scimemi, Pietro; Santarelli, Rosamaria; Murgia, 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 |
| Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family | 2019 | Bigoni, Stefania; Neri, Marcella; Scotton, Chiara; Farina, Roberto; Sabatelli, Patrizia; Jiang, C...hongyi; Zhang, Jianguo; Falzarano, Maria Sofia; Rossi, Rachele; Ognibene, Davide; Selvatici, Rita; Gualandi, Francesca; Bosshardt, Dieter; Perri, Paolo; Campa, Claudio; Brancati, Francesco; Salvatore, Marco; De Stefano, Maria Chiara; Taruscio, Domenica; Trombelli, Leonardo; Fang, Mingyan; Ferlini, Alessandra | |
| Identification of a new mutation in RSK2, the gene for coffin–lowry syndrome (CLS), in two related patients with mild and atypical phenotypes | 2021 | Di Stazio, Mariateresa; Bigoni, Stefania; Iuso, Nicola; Vuch, Josef; Selvatici, Rita; Ulivi, Shei...la; Adamo d’Adamo, Pio | |
| 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 |
| MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region | 2001 | Vacca, M; Filippini, F; Budillon, A; Rossi, V; DELLA RAGIONE, Floriana; DE BONIS, Ml; Mercadante,... G; Manzati, Elisa; Gualandi, Francesca; Bigoni, Stefania; Trabanelli, C; Pini, G; Calzolari, Elisa; Ferlini, Alessandra; Meloni, I; Hayek, G; Zappella, M; Renieri, A; D'Urso, M; D'Esposito, M; Macdonald, F; Kerr, A; Dhanjal, S; Hulten, M. | file con accesso da definire |
| Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. | 2001 | Vacca, M; Filippini, F; Budillon, A; Rossi, V; Mercadante, G; Manzati, Elisa; Gualandi, Francesca...; Bigoni, Stefania; Trabanelli, Cecilia; Pini, G; Calzolari, Elisa; Ferlini, Alessandra; Meloni, I; Hayek, G; Zappella, M; Renieri, A; D'Urso, M; D'Esposito, M; Macdonald, F; Kerr, A; Dhanjal, S; Hulten, M. | file con accesso da definire |
| Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation | 2021 | Ciorba, Andrea; Corazzi, Virginia; Melegatti, Michela Nicole; Morgan, Anna; Pelliccione, Giulia; ...Girotto, Giorgia; Bigoni, Stefania |