IRIS

BIGONI, Stefania

BIGONI, Stefania  

Mostra records
Risultati 1 - 20 di 25 (tempo di esecuzione: 0.022 secondi).
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.
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 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 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
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
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
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.
PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum 2021 Johannesen, K. M.; Gardella, E.; Gjerulfsen, C. E.; Bayat, A.; Rouhl, R. P. W.; Reijnders, M.; Wh...alen, S.; Keren, B.; Buratti, J.; Courtin, T.; Wierenga, K. J.; Isidor, B.; Piton, A.; Faivre, L.; Garde, A.; Moutton, S.; Tran-Mau-Them, F.; Denomme-Pichon, A. -S.; Coubes, C.; Larson, A.; Esser, M. J.; Appendino, J. P.; Al-Hertani, W.; Gamboni, B.; Mampel, A.; Mayorga, L.; Orsini, A.; Bonuccelli, A.; Suppiej, A.; Van-Gils, J.; Vogt, J.; Damioli, S.; Giordano, L.; Moortgat, S.; Wirrell, E.; Hicks, S.; Kini, U.; Noble, N.; Stewart, H.; Asakar, S.; Cohen, J. S.; Naidu, S. R.; Collier, A.; Brilstra, E. H.; Li, M. H.; Brew, C.; Bigoni, S.; Ognibene, D.; Ballardini, E.; Ruivenkamp, C.; Faggioli, R.; Afenjar, A.; Rodriguez, D.; Bick, D.; Segal, D.; Coman, D.; Gunning, B.; Devinsky, O.; Demmer, L. A.; Grebe, T.; Pruna, D.; Cursio, I.; Greenhalgh, L.; Graziano, C.; Singh, R. R.; Cantalupo, G.; Willems, M.; Yoganathan, S.; Goes, F.; Leventer, R. J.; Colavito, D.; Olivotto, S.; Scelsa, B.; Andrade, A. V.; Ratke, K.; Tokarz, F.; Khan, A. S.; Ormieres, C.; Benko, W.; Keough, K.; Keros, S.; Hussain, S.; Franques, A.; Varsalone, F.; Gronborg, S.; Mignot, C.; Heron, D.; Nava, C.; Isapof, A.; Borlot, F.; Whitney, R.; Ronan, A.; Foulds, N.; Somorai, M.; Brandsema, J.; Helbig, K. L.; Helbig, I.; Ortiz-Gonzalez, X. R.; Dubbs, H.; Vitobello, A.; Anderson, M.; Spadafore, D.; Hunt, D.; Moller, R. S.; Rubboli, G.
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.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder 2022 Broly, Martin; V Polevoda, Bogdan; M Awayda, Kamel; Tong, Ning; Lentini, Jenna; Besnard, Thomas; ...Deb, Wallid; O'Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; S Alkuraya, Fowzan; Leon, Alberta; E van Loon, Rosa L; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; Al-Maawali, Almundher; Al-Murshedi, Fathiya; Ganesh, Anuradha; Al-Mamari, Watfa; Chern Lim, Sze; S Pais, Lynn; Brown, Natasha; Riazuddin, Saima; Bézieau, Stéphane; Fu, Dragony; Isidor, Bertrand; Cogné, Benjamin; R O'Connell, Mitchell file con accesso da definire