PERON, ANGELA
PERON, ANGELA
Dipartimento di Scienze della Salute
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation
2017 L. Ronzoni, A. Novelli, G. Brisighelli, A. Peron, F. Triulzi, V. Bianchi, E. Leva, M.F. Bedeschi
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature
2015 R. Caselli, L. Ballarati, A. Vignoli, A. Peron, M.P. Recalcati, I. Catusi, L. Larizza, D. Giardino
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
2021 I. Catusi, M. Garzo, A. Paola Capra, S. Briuglia, C. Baldo, M.P. Canevini, R. Cantone, F. Elia, F. Forzano, O. Galesi, E. Grosso, M. Malacarne, A. Peron, C. Romano, M. Saccani, L. Larizza, M. Paola Recalcati
Aortic dilation in Sotos syndrome : an underestimated feature?
2020 L. Pezzani, L. Mauri, A. Selicorni, A. Peron, M. Grasso, A.C. Codazzi, A. Rimini, P.G. Marchisio, D. Coviello, A. Colli, D. Milani
Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers
2015 A. Vignoli, F. La Briola, A. Peron, K. Turner, C. Vannicola, M. Saccani, E. Magnaghi, G.F. Scornavacca, M.P. Canevini
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2021 A. Peron, F. D'Arco, K.A. Aldinger, C. Smith-Hicks, C. Zweier, G.A. Gradek, K. Bradbury, A. Accogli, E.F. Andersen, P. Yee Billie Au, R. Battini, D. Beleford, L.M. Bird, A. Bouman, A. Bruel (O)yvind L(o)vold Busk, P.M. Campeau, V. Capra, C. Carlston, J. Carmichael, A. Chassevent, J. Clayton-Smith, M. J Bamshad, D.L. Earl, L. Faivre, C. Philippe, P. Ferrerira, L. Graul-Neumann, M.J. Green, D. Haffner, P. Haldipur, S. Hanna, G. Houge, J. Hurst, C. Kraus, B. Elisabeth Kristiansen, J. Lespinasse, K.J. Low, S. Ann Lynch, S. Maia, R. Mao, R. Marcinkute, C. Melver, K. Mcdonald, T. Montgomery, M. Morleo, C. Motter, A.S. Openshaw, J. Cox Palumbos, A. Shah Parikh, R. Person, M. Desai, J. Piard, R. Pfundt, M. Scala, M. Serey-Gaut, A. Slavotinek, M. Suri, C. Turner, T. Tvrdik, K. Weiss, I.M. Wentzensen, M. Zollino, B.B.A. de Vries, F. Guillemot, W.B. Dobyns, D. Viskochil, C. Dias
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World
2021 C. Stuart, C. Fladrowski, J. Flinn, B. Oberg, A. Peron, M. Rozenberg, C.A. Smith
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
2019 M.C. Aspromonte, M. Bellini, A. Gasparini, M. Carraro, E. Bettella, R. Polli, F. Cesca, S. Bigoni, S. Boni, O. Carlet, S. Negrin, I. Mammi, D. Milani, A. Peron, S. Sartori, I. Toldo, F. Soli, L. Turolla, F. Stanzial, F. Benedicenti, C. Marino-Buslje, S.C.E. Tosatto, A. Murgia, E. Leonardi
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies
2021 C. Parodi, E. Di Fede, A. Peron, I. Viganò, P. Grazioli, S. Castiglioni, R.H. Finnell, C. Gervasini, A. Vignoli, V. Massa
Corrigendum to "Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet 2013, 161A: 2316-2320"
2014 A. Peron, C.E. Schwartz
Current concepts on epilepsy management in tuberous sclerosis complex
2018 M.P. Canevini, K. Kotulska-Jozwiak, P. Curatolo, F. La Briola, A. Peron, M. Slowinska, J. Strzelecka, A. Vignoli, S. Jozwiak
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females
2020 M. Scala, E. Zonneveld-Huijssoon, M. Brienza, O. Mecarelli, A.H. van der Hout, E. Zambrelli, K. Turner, F. Zara, A. Peron, A. Vignoli, P. Striano
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
2020 G. Cappuccio, C. Sayou, P.L. Tanno, E. Tisserant, A.-. Bruel, S.E. Kennani, J. Sa, K.J. Low, C. Dias, M. Havlovicova, M. Hancarova, E.E. Eichler, F. Devillard, S. Moutton, J. Van-Gils, C. Dubourg, S. Odent, B. Gerard, A. Piton, T. Yamamoto, N. Okamoto, H. Firth, K. Metcalfe, A. Moh, K.A. Chapman, E. Aref-Eshghi, J. Kerkhof, A. Torella, V. Nigro, L. Perrin, J. Piard, G. Le Guyader, T. Jouan, C. Thauvin-Robinet, Y. Duffourd, J.K. George-Abraham, C.A. Buchanan, D. Williams, U. Kini, K. Wilson, V. Nigro, N. Brunetti-Pierri, G. Casari, G. Cappuccio, A. Torella, M. Pinelli, F. Musacchia, M. Mutarelli, D. Carrella, G. Vitiello, V. Capra, G. Parenti, V. Leuzzi, A. Selicorni, S. Maitz, S. Banfi, M. Zollino, M. Montomoli, D. Milani, C. Romano, A. Tummolo, D. De Brasi, A. Coppola, C. Santoro, A. Peron, C. Pantaleoni, R. Castello, S. D'Arrigo, S.B. Sousa, R.C.M. Hennekam, B. Sadikovic, J. Thevenon, J. Govin, A. Vitobello, N. Brunetti-Pierri
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
2018 A. Peron, A. Vignoli, F.L. Briola, E. Morenghi, L. Tansini, R.M. Alfano, G. Bulfamante, S. Terraneo, F. Ghelma, G. Banderali, D.H. Viskochil, J.C. Carey, M.P. Canevini
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
2021 J.M. Bain, O. Thornburg, C. Pan, D. Rome-Martin, L. Boyle, X. Fan, O. Devinsky, R. Frye, S. Hamp, C.G. Keator, N.M. Lamarca, A.B.R. Maddocks, M. Madruga-Garrido, K.Y. Niederhoffer, F. Novara, A. Peron, E. Poole-Di Salvo, R. Salazar, S.A. Skinner, G. Soares, S. Goldman, W.K. Chung
Do patients with tuberous sclerosis complex have an increased risk for malignancies?
2016 A. Peron, A. Vignoli, F. La Briola, A. Volpi, E. Montanari, E. Morenghi, F. Ghelma, G. Bulfamante, G. Cefalo, M.P. Canevini
Dramatic relapse of seizures after everolimus withdrawal
2017 A. Mingarelli, A. Vignoli, F. La Briola, A. Peron, L. Giordano, G. Banderali, M.P. Canevini
Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures?
2018 M. Słowińska, S. Jóźwiak, A. Peron, J. Borkowska, D. Chmielewski, K. Sadowski, E. Jurkiewicz, A. Vignoli, F. La Briola, M.P. Canevini, K. Kotulska-Jóźwiak
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome
2017 A. Vignoli, M.N. Savini, M.S. Nowbut, A. Peron, K. Turner, F. La Briola, M.P. Canevini
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background
2020 M.N. Savini, A. Mingarelli, A. Peron, F. La Briola, F. Cervi, R.M. Alfano, M.P. Canevini, A. Vignoli