BETTELLA, ELISA
BETTELLA, ELISA
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.
2009 Sartori, S; Di Rosa, G; Polli, R; Bettella, E; Tricomi, G; Tortorella, G; Murgia, Alessandra
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members
2018 Cesca, Federica; Bettella, Elisa; Polli, Roberta; Cama, Elona; Scimemi, Pietro; Santarelli, Rosamaria; Murgia, Alessandra
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)
2020 Leonardi, E.; Bellini, M.; Aspromonte, M. C.; Polli, R.; Mercante, A.; Ciaccio, C.; Granocchio, E.; Bettella, E.; Donati, I.; Cainelli, E.; Boni, S.; Sartori, S.; Pantaleoni, C.; Boniver, C.; Murgia, A.
A PATHOGENIC ROLE OF THE X-LINKED CYCLIN-DEPENDENT KINASE-LIKE 5 AND ARISTALESS-RELATED HOMEOBOX GENES IN EPILEPTIC ENCEPHALOPATHY OF UNKNOWN ETIOLOGY WITH ONSET IN THE FIRST YEAR OF LIFE
2011 Sartori, S; Polli, R; Bettella, E; Rossato, S; Andreoli, W; Vecchi, M; Giordano, L; Accorsi, P; DI ROSA, G; Toldo, Irene; Zamponi, N; Darra, F; DALLA BERNARDINA, B; Perilongo, Giorgio; Boniver, C; Murgia, Alessandra
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review
2018 Toldo, Irene; Bonardi, CLAUDIA MARIA; Bettella, Elisa; Polli, Roberta; Talenti, Giacomo; Burlina, Alberto; Sartori, Stefano; Murgia, Alessandra
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
2019 Aspromonte, M. C.; Bellini, Mariagrazia; Gasparini, A.; Carraro, M.; Bettella, E.; Polli, R.; Cesca, F.; Bigoni, S.; Boni, S.; Carlet, O.; Negrin, S.; Mammi, I.; Milani, Duccio; Peron, A.; Sartori, S.; Toldo, I.; Soli, F.; Turolla, L.; Stanzial, F.; Benedicenti, F.; MARINO BUSLJE, CRISTINA ESTER; Tosatto, S. C. E.; Murgia, A.; Leonardi, E.
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
2019 Guo, H.; Bettella, E.; Marcogliese, P. C.; Zhao, R.; Andrews, J. C.; Nowakowski, T. J.; Gillentine, M. A.; Hoekzema, K.; Wang, T.; Wu, H.; Jangam, S.; Liu, C.; Ni, H.; Willemsen, M. H.; van Bon, B. W.; Rinne, T.; Stevens, S. J. C.; Kleefstra, T.; Brunner, H. G.; Yntema, H. G.; Long, M.; Zhao, W.; Hu, Z.; Colson, C.; Richard, N.; Schwartz, C. E.; Romano, C.; Castiglia, L.; Bottitta, M.; Dhar, S. U.; Erwin, D. J.; Emrick, L.; Keren, B.; Afenjar, A.; Zhu, B.; Bai, B.; Stankiewicz, P.; Herman, K.; Nickerson, D. A.; Bamshad, M. J.; Mercimek-Andrews, S.; Juusola, J.; Wilfert, A. B.; Abou Jamra, R.; Buttner, B.; Mefford, H. C.; Muir, A. M.; Scheffer, I. E.; Regan, B. M.; Malone, S.; Gecz, J.; Cobben, J.; Weiss, M. M.; Waisfisz, Q.; Bijlsma, E. K.; Hoffer, M. J. V.; Ruivenkamp, C. A. L.; Sartori, S.; Xia, F.; Rosenfeld, J. A.; Bernier, R. A.; Wangler, M. F.; Yamamoto, S.; Xia, K.; Stegmann, A. P. A.; Bellen, H. J.; Murgia, A.; Eichler, E. E.
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females
2013 Bettella, Elisa; G., Di Rosa; Polli, Roberta; Leonardi, Emanuela; G., Tortorella; Sartori, Stefano; Murgia, Alessandra
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations
2023 Leonardi, Emanuela; Cristina Aspromonte, Maria; Drongitis, Denise; Bettella, Elisa; Verrillo, Lucia; Polli, Roberta; Mcentagart, Meriel; Licchetta, Laura; Dilena, Robertino; D'Arrigo, Stefano; Ciaccio, Claudia; Esposito, Silvia; Leuzzi, Vincenzo; Torella, Annalaura; Baldo, Demetrio; Lonardo, Fortunato; Bonato, Giulia; DE PELLEGRIN, Serena; Stanzial, Franco; Posmyk, Renata; Kaczorowska, Ewa; Carecchio, Miryam; Gos, Monika; Rzońca-Niewczas, Sylwia; Giuseppina Miano, Maria; Murgia, Alessandra
Familial Ohtahara syndrome due to a novel ARX gene mutation
2010 Giordano, L; Sartori, S; Russo, S; Accorsi, P; Galli, J.; Tiberti, A; Bettella, E; Marchi, M; Vignoli, A; Darra, F; Murgia, Alessandra; Bernardina, B. D.
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype
2020 Cesca, F.; Bettella, E.; Polli, R.; Leonardi, E.; Aspromonte, M. C.; Sicilian, B.; Stanzial, F.; Benedicenti, F.; Sensi, A.; Ciorba, A.; Bigoni, S.; Cama, E.; Scimemi, P.; Santarelli, R.; Murgia, A.
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact
2014 Leonardi, Emanuela; Sartori, Stefano; Marilena, Vecchi; Bettella, Elisa; Polli, Roberta; Luca De Palma, ; Clementina, Boniver; Murgia, Alessandra
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”
2020 Leonardi, E.; Bettella, E.; Pelizza, M. F.; Aspromonte, M. C.; Polli, R.; Boniver, C.; Sartori, S.; Milani, D.; Murgia, A.