PERON, ANGELA

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PERON, ANGELA

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Dipartimento di Scienze della Salute

Pubblicazioni

Risultati 1 - 20 di 60 (tempo di esecuzione: 0.001 secondi).

	Titolo	Data di pubblicazione	Autori	Tipo	File	Abstract
1	2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation	gen-2017	RONZONI, LUISA ; Novelli A.; Brisighelli G.; PERON, ANGELA ; TRIULZI, FABIO MARIA ; Bianchi V.; LEVA, ERNESTO ; Bedeschi M. F.	Article (author)	riservati
2	7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature	nov-2015	R. Caselli; L. Ballarati; VIGNOLI, AGLAIA ; PERON, ANGELA ; RECALCATI, MARIA PAOLA ; CATUSI, ILARIA ; LARIZZA, LIDIA ; D. Giardino	Article (author)	riservati
3	8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature	27-apr-2021	Ilaria Catusi; Maria Garzo; Anna Paola Capra; Silvana Briuglia; Chiara Baldo; CANEVINI, MARIA PAOLA ; Rachele Cantone; Flaviana Elia; Francesca Forzano; Ornella Galesi; Enrico Grosso; Michela Malacarne; PERON, ANGELA ; Corrado Romano; Monica Saccani; Lidia Larizza; Maria Paola Recalcati	Article (author)	Open Access
4	Aortic dilation in Sotos syndrome : an underestimated feature?	lug-2020	PEZZANI, LIDIA ; Mauri L.; Selicorni A.; PERON, ANGELA ; Grasso M.; Codazzi A. C.; Rimini A.; MARCHISIO, PAOLA GIOVANNA ; Coviello D.; COLLI, ANNA MARIA ; MILANI, DONATELLA	Article (author)	riservati	-
5	Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers	dic-2015	VIGNOLI, AGLAIA ; LA BRIOLA, FRANCESCA ; PERON, ANGELA ; TURNER, KATHERINE ; C. Vannicola; M. Saccani; MAGNAGHI, ELISABETTA ; G. F. Scornavacca; CANEVINI, MARIA PAOLA	Article (author)	Open Access
6	BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations	2021	PERON, ANGELA ; Felice D'Arco; Kimberly A. Aldinger; Constance Smith-Hicks; Christiane Zweier; Gyri A. Gradek; Kimberley Bradbury; Andrea Accogli; Erica F. Andersen; Ping Yee Billie Au; Roberta Battini; Daniah Beleford; Lynne M. Bird; Arjan Bouman; Philippe M. Campeau; Valeria Capra; Colleen Carlston; Jenny Carmichael; Anna Chassevent; Jill Clayton-Smith; Michael J Bamshad; Dawn L. Earl; Laurence Faivre; Christophe Philippe; Patrick Ferrerira; Luitgard Graul-Neumann; Mary J. Green; Darrah Haffner; Parthiv Haldipur; Suhair Hanna; Gunnar Houge; Jane Hurst; Cornelia Kraus; Birgit Elisabeth Kristiansen; James Lespinasse; Karen J. Low; Sally Ann Lynch; Sofia Maia; Rong Mao; Ruta Marcinkute; Catherine Melver; Kimberly McDonald; Tara Montgomery; Manuela Morleo; Constance Motter; Amanda S. Openshaw; Janice Cox Palumbos; Aditi Shah Parikh; Richard Person; Megha Desai; Juliette Piard; Rolph Pfundt; Marcello Scala; Margaux Serey-Gaut; Anne Slavotinek; Mohnish Suri; Claire Turner; Tatiana Tvrdik; Karin Weiss; Ingrid M. Wentzensen; Marcella Zollino; Bert B. A. de Vries; Francois Guillemot; William B. Dobyns; David Viskochil; Cristina Dias	Article (author)	Open Access
7	Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World	2021	Stuart C.; Fladrowski C.; Flinn J.; Oberg B.; PERON, ANGELA ; Rozenberg M.; Smith C. A.	Article (author)	Open Access
8	Characterization of intellectual disability and autism comorbidity through gene panel sequencing	set-2019	Aspromonte M. C.; Bellini M.; Gasparini A.; Carraro M.; Bettella E.; Polli R.; Cesca F.; Bigoni S.; Boni S.; Carlet O.; Negrin S.; Mammi I.; MILANI, DONATELLA ; PERON, ANGELA ; Sartori S.; Toldo I.; Soli F.; Turolla L.; Stanzial F.; Benedicenti F.; Marino-Buslje C.; Tosatto S. C. E.; Murgia A.; Leonardi E.	Article (author)	Open Access
9	Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies	20-apr-2021	PARODI, CHIARA ; DI FEDE, ELISABETTA ; PERON, ANGELA ; VIGANO', ILARIA ; GRAZIOLI, PAOLO ; CASTIGLIONI, SILVIA ; Finnell, Richard H.; GERVASINI, CRISTINA COSTANZA GIOVANNA ; VIGNOLI, AGLAIA ; MASSA, VALENTINA	Article (author)	Open Access
10	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"	apr-2014	PERON, ANGELA ; Schwartz C. E.	Article (author)	Open Access	-
11	Current concepts on epilepsy management in tuberous sclerosis complex	2018	CANEVINI, MARIA PAOLA ; Kotulska-Jozwiak K.; Curatolo P.; LA BRIOLA, FRANCESCA ; PERON, ANGELA ; Slowinska M.; Strzelecka J.; VIGNOLI, AGLAIA ; Jozwiak S.	Article (author)	riservati
12	Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2	2018	PERON, ANGELA ; VIGNOLI, AGLAIA ; LA BRIOLA, FRANCESCA ; MORENGHI, EMANUELA ; TANSINI, LUCIA ; Alfano, Rosa Maria; BULFAMANTE, GAETANO PIETRO ; TERRANEO, SILVIA ; GHELMA, FILIPPO ; Banderali, Giuseppe; Viskochil, David H.; Carey, John C.; CANEVINI, MARIA PAOLA	Article (author)	riservati
13	Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder	feb-2021	Bain, Jennifer M.; Thornburg, Olivia; Pan, Cheryl; Rome-Martin, Donnielle; Boyle, Lia; Fan, Xiao; Devinsky, Orrin; Frye, Richard; Hamp, Silke; Keator, Cynthia G.; LaMarca, Nicole M.; Maddocks, Alexis B. R.; Madruga-Garrido, Marcos; Niederhoffer, Karen Y.; Novara, Francesca; PERON, ANGELA ; Poole-Di Salvo, Elizabeth; Salazar, Rachel; Skinner, Steven A.; Soares, Gabriela; Goldman, Sylvie; Chung, Wendy K.	Article (author)	Open Access
14	Do patients with tuberous sclerosis complex have an increased risk for malignancies?	giu-2016	PERON, ANGELA ; VIGNOLI, AGLAIA ; LA BRIOLA, FRANCESCA ; A. Volpi; MONTANARI, EMANUELE ; MORENGHI, EMANUELA ; GHELMA, FILIPPO ; BULFAMANTE, GAETANO PIETRO ; CEFALO, GRAZIELLA ; CANEVINI, MARIA PAOLA	Article (author)	riservati
15	Dramatic relapse of seizures after everolimus withdrawal	3-ago-2017	A. Mingarelli; VIGNOLI, AGLAIA ; F. La Briola; PERON, ANGELA ; L. Giordano; G. Banderali; CANEVINI, MARIA PAOLA	Article (author)	riservati
16	Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures?	2018	Słowińska, Monika; Jóźwiak, Sergiusz; PERON, ANGELA ; Borkowska, Julita; Chmielewski, Dariusz; Sadowski, Krzysztof; Jurkiewicz, Elzbieta; VIGNOLI, AGLAIA ; La Briola, Francesca; CANEVINI, MARIA PAOLA ; Kotulska-Jóźwiak, Katarzyna	Article (author)	Open Access
17	Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome	2017	VIGNOLI, AGLAIA ; M. N. Savini; M. S. Nowbut; PERON, ANGELA ; K. Turner; F. La Briola; CANEVINI, MARIA PAOLA	Article (author)	riservati
18	Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background	27-mar-2020	SAVINI, MIRIAM NELLA ; Mingarelli A.; PERON, ANGELA ; LA BRIOLA, FRANCESCA ; CERVI, FRANCESCA ; Alfano R. M.; CANEVINI, MARIA PAOLA ; VIGNOLI, AGLAIA	Article (author)	Open Access
19	Electroclinical findings in DUPXQ28 syndrome	ago-2011	PERON, ANGELA ; VIGNOLI, AGLAIA ; M. Bellini; L. Ballarati; R. Caselli; C. Bonaglia; D. Giardino; LA BRIOLA, FRANCESCA ; G. Banderali; CANEVINI, MARIA PAOLA	Article (author)	-	-
20	Electroclinical pattern in MECP2 duplication syndrome : eight new reported cases and review of literature	lug-2012	VIGNOLI, AGLAIA ; R. Borgatti; PERON, ANGELA ; C. Zucca; L. Ballarati; C. Bonaglia; M. Bellini; L. Giordano; R. Romaniello; M. F. Bedeschi; R. Epifanio; S. Russo; R. Caselli; D. Giardino; F. Darra; LA BRIOLA, FRANCESCA ; G. Banderali; CANEVINI, MARIA PAOLA	Article (author)	-

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PERON, ANGELA

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