Sfoglia per Autore
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.
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
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.
file con accesso da definire2004 Falco, M; Scuderi, C; Musumeci, S; Sturnio, M; Neri, Marcella; Bigoni, Stefania; Caniatti, L; Fichera, M.
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
2008 Brancati, F; Travaglini, L; Zablocka, D; Boltshauser, E; Accorsi, P; Montagna, G; Silhavy, Jl; Barrano, G; Bertini, E; Emma, F; Rigoli, L; International JSRD Study, Group; Dallapiccola, B; Gleeson, Jg; Valente EM Collaborators Leventer, R; Grattan Smith, P; Janecke, A; D'Hooghe, M; Van Coster, R; Dias, K; Moco, C; Moreira, A; Kim, Ca; Maegawa, G; Abdel Salam, Gm; Abdel Aleem, A; Zaki, Ms; Marti, I; Quijano Roy, S; de Lonlay, P; Romano, S; Verloes, A; Touraine, R; Koenig, M; Lagier Tourenne, C; Messer, J; Philippi, H; Tzeli, Sk; Halldorsson, S; Johannsdottir, J; Ludvigsson, P; Phadke, Sr; Stuart, B; Magee, A; Lev, D; Michelson, M; Ben Zeev, B; Fischetto, R; Gentile, M; Battaglia, S; Giordano, L; Pinelli, L; Boccone, L; Ruggieri, M; Bigoni, Stefania; Ferlini, Alessandra; Donati, Ma; Procopio, E; Caridi, G; Faravelli, F; Ghiggeri, G; Briuglia, S; Salpietro, Cd; Tortorella, G; D'Arrigo, S; Pantaleoni, C; Riva, D; Uziel, G; Laverda, Am; Permunian, A; Bova, S; Battini, R; Cilio, Mr; Di Sabato, M; Leuzzi, V; Parisi, P; Simonati, A; Al Tawari, Aa; Bastaki, L; de Jong, Mm; Koul, R; Rajab, A; Azam, M; Barbot, C; Rodriguez, B; Pascual Castroviejo, I; Kayserili, H; Comu, S; Akcakus, M; Al Gazali, L; Sztriha, L; Nicholl, D; Woods, Cg; Bennett, C; Hurst, J; Hennekam, R; Lees, M; 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.
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
Un'ipotonia sospetta
file con accesso da definire2011 A., Tarocco; Ballardini, Elisa; Bigoni, Stefania; Rimessi, Paola; Italyankina, Eleonora; Garani, Giampaolo
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy
2013 Ballardini, Elisa; Tarocco, A; Marsella, M; Bernardoni, R; Carandina, G; Melandri, C; Guerra, G; Patella, A; Zucchelli, M; Ferlini, Alessandra; Bigoni, Stefania; Ravani, Anna; Garani, G; Borgna, Caterina
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
Thyroid function in Rett syndrome
2015 Stagi, Stefano; Cavalli, Loredana; Congiu, Laura; Scusa, Maria Flora; Ferlini, Alessandra; Bigoni, Stefania; Benincasa, Alberto; Rossi, Bruno; Pini, Giorgio
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
Unusual father-to-daughter transmission of incontinentia pigmenti due to mosaicism in IP males
2017 Fusco, Francesca; Conte, Matilde Immacolata; Diociauti, Andrea; Bigoni, Stefania; Branda, Maria Francesca; Ferlini, Alessandra; El Hachem, Maya; Ursini, Matilde Valeria
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy
file con accesso da definire2017 Fonderico, Mattia; Laudisi, Michele; Andreasi, Nico Golfrè; Bigoni, Stefania; Lamperti, Costanza; Panteghini, Celeste; Garavaglia, Barbara; Carecchio, Miryam; Emanuele, Elia Antonio; Forni, Gian L.; Granieri, Enrico Gavino Giuseppe
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
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
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.
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
Pura syndrome: an emerging neurodevelopmental disorder
2019 Bigoni, S.; Garani, G.; Santen, G.; Della Monica, M.; Graziano, C.; Ruivenkamp, C.; Ballardini, E.; Guerrini, R.; Magini, P.; Procopio, E.; Parrini, E.; Suppiej, A.; Colavito, D.; Maritan, V.; Hoffer, M.; Ognibene, D.; Ferlini, A.
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
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
Titolo | Data di pubblicazione | Autore(i) | File |
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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 |
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 |
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. | 2004 | Falco, M; Scuderi, C; Musumeci, S; Sturnio, M; Neri, Marcella; Bigoni, Stefania; Caniatti, L; Fic...hera, M. | file con accesso da definire |
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders | 2008 | Brancati, F; Travaglini, L; Zablocka, D; Boltshauser, E; Accorsi, P; Montagna, G; Silhavy, Jl; Ba...rrano, G; Bertini, E; Emma, F; Rigoli, L; International JSRD Study, Group; Dallapiccola, B; Gleeson, Jg; Valente EM Collaborators Leventer, R; Grattan Smith, P; Janecke, A; D'Hooghe, M; Van Coster, R; Dias, K; Moco, C; Moreira, A; Kim, Ca; Maegawa, G; Abdel Salam, Gm; Abdel Aleem, A; Zaki, Ms; Marti, I; Quijano Roy, S; de Lonlay, P; Romano, S; Verloes, A; Touraine, R; Koenig, M; Lagier Tourenne, C; Messer, J; Philippi, H; Tzeli, Sk; Halldorsson, S; Johannsdottir, J; Ludvigsson, P; Phadke, Sr; Stuart, B; Magee, A; Lev, D; Michelson, M; Ben Zeev, B; Fischetto, R; Gentile, M; Battaglia, S; Giordano, L; Pinelli, L; Boccone, L; Ruggieri, M; Bigoni, Stefania; Ferlini, Alessandra; Donati, Ma; Procopio, E; Caridi, G; Faravelli, F; Ghiggeri, G; Briuglia, S; Salpietro, Cd; Tortorella, G; D'Arrigo, S; Pantaleoni, C; Riva, D; Uziel, G; Laverda, Am; Permunian, A; Bova, S; Battini, R; Cilio, Mr; Di Sabato, M; Leuzzi, V; Parisi, P; Simonati, A; Al Tawari, Aa; Bastaki, L; de Jong, Mm; Koul, R; Rajab, A; Azam, M; Barbot, C; Rodriguez, B; Pascual Castroviejo, I; Kayserili, H; Comu, S; Akcakus, M; Al Gazali, L; Sztriha, L; Nicholl, D; Woods, Cg; Bennett, C; Hurst, J; Hennekam, R; Lees, M; 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. | |
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 |
Un'ipotonia sospetta | 2011 | A., Tarocco; Ballardini, Elisa; Bigoni, Stefania; Rimessi, Paola; Italyankina, Eleonora; Garani, ...Giampaolo | file con accesso da definire |
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy | 2013 | Ballardini, Elisa; Tarocco, A; Marsella, M; Bernardoni, R; Carandina, G; Melandri, C; Guerra, G; ...Patella, A; Zucchelli, M; Ferlini, Alessandra; Bigoni, Stefania; Ravani, Anna; Garani, G; Borgna, Caterina | |
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 |
Thyroid function in Rett syndrome | 2015 | Stagi, Stefano; Cavalli, Loredana; Congiu, Laura; Scusa, Maria Flora; Ferlini, Alessandra; Bigoni..., Stefania; Benincasa, Alberto; Rossi, Bruno; Pini, Giorgio | |
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 |
Unusual father-to-daughter transmission of incontinentia pigmenti due to mosaicism in IP males | 2017 | Fusco, Francesca; Conte, Matilde Immacolata; Diociauti, Andrea; Bigoni, Stefania; Branda, Maria F...rancesca; Ferlini, Alessandra; El Hachem, Maya; Ursini, Matilde Valeria | |
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy | 2017 | Fonderico, Mattia; Laudisi, Michele; Andreasi, Nico Golfrè; Bigoni, Stefania; Lamperti, Costanza;... Panteghini, Celeste; Garavaglia, Barbara; Carecchio, Miryam; Emanuele, Elia Antonio; Forni, Gian L.; Granieri, Enrico Gavino Giuseppe | 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 |
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 |
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. | |
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 | |
Pura syndrome: an emerging neurodevelopmental disorder | 2019 | Bigoni, S.; Garani, G.; Santen, G.; Della Monica, M.; Graziano, C.; Ruivenkamp, C.; Ballardini, E....; Guerrini, R.; Magini, P.; Procopio, E.; Parrini, E.; Suppiej, A.; Colavito, D.; Maritan, V.; Hoffer, M.; Ognibene, D.; Ferlini, A. | |
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 | |
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 |
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