PERON, ANGELA
PERON, ANGELA
Scienze Biomediche, Sperimentali e Cliniche 'Mario Serio'
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation
2017 Ronzoni L.; Novelli A.; Brisighelli G.; Peron A.; Triulzi F.; Bianchi V.; Leva E.; Bedeschi M. F.
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 Ilaria Catusi; Maria Garzo; Anna Paola Capra; Silvana Briuglia; Chiara Baldo; Maria Paola Canevini; Rachele Cantone; Flaviana Elia; Francesca Forzano; Ornella Galesi; Enrico Grosso; Michela Malacarne; Angela Peron; Corrado Romano; Monica Saccani; Lidia Larizza; Maria Paola Recalcati
Aortic dilation in Sotos syndrome : an underestimated feature?
2020 Pezzani L.; Mauri L.; Selicorni A.; Peron A.; Grasso M.; Codazzi A. C.; Rimini A.; Marchisio P. G.; Coviello D.; Colli A.; Milani D.
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 Angela Peron; 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; Ange-Line Bruel (O)yvind L(o)vold Busk; 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
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 A.; Rozenberg M.; Smith C. A.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
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 D.; Peron A.; Sartori S.; Toldo I.; Soli F.; Turolla L.; Stanzial F.; Benedicenti F.; Marino-Buslje C.; Tosatto S. C. E.; Murgia A.; Leonardi E.
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions
2023 Verscaj, Courtney P; Velez-Bartolomei, Frances; Bodle, Ethan; Chan, Katie; Lyons, Michael J; Thorson, Willa; Tan, Wen-Hann; Rodig, Nancy; Graham, John M; Peron, Angela; Quintero-Rivera, Fabiola; Zackai, Elaine H; Thomas, Mary Ann; Stevens, Cathy A; Adam, Margaret P; Bird, Lynne M; Jones, Marilyn C; Matalon, Dena R
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies
2021 Parodi, Chiara; Di Fede, Elisabetta; Peron, Angela; Viganò, Ilaria; Grazioli, Paolo; Castiglioni, Silvia; Finnell, Richard H.; Gervasini, Cristina; Vignoli, Aglaia; Massa, Valentina
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 Peron A.; Schwartz C. E.
Current concepts on epilepsy management in tuberous sclerosis complex
2018 Canevini M. P.; Kotulska-Jozwiak K.; Curatolo P.; La Briola F.; Peron A.; Slowinska M.; Strzelecka J.; Vignoli A.; Jozwiak S.
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females
2020 Scala M.; Zonneveld-Huijssoon E.; Brienza M.; Mecarelli O.; van der Hout A. H.; Zambrelli E.; Turner K.; Zara F.; Peron A.; Vignoli A.; Striano P.
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 Cappuccio G.; Sayou C.; Tanno P. L.; Tisserant E.; Bruel A. -L.; Kennani S. E.; Sa J.; Low K. J.; Dias C.; Havlovicova M.; Hancarova M.; Eichler E. E.; Devillard F.; Moutton S.; Van-Gils J.; Dubourg C.; Odent S.; Gerard B.; Piton A.; Yamamoto T.; Okamoto N.; Firth H.; Metcalfe K.; Moh A.; Chapman K. A.; Aref-Eshghi E.; Kerkhof J.; Torella A.; Nigro V.; Perrin L.; Piard J.; Le Guyader G.; Jouan T.; Thauvin-Robinet C.; Duffourd Y.; George-Abraham J. K.; Buchanan C. A.; Williams D.; Kini U.; Wilson K.; Nigro V.; Brunetti-Pierri N.; Casari G.; Cappuccio G.; Torella A.; Pinelli M.; Musacchia F.; Mutarelli M.; Carrella D.; Vitiello G.; Capra V.; Parenti G.; Leuzzi V.; Selicorni A.; Maitz S.; Banfi S.; Zollino M.; Montomoli M.; Milani D.; Romano C.; Tummolo A.; De Brasi D.; Coppola A.; Santoro C.; Peron A.; Pantaleoni C.; Castello R.; D'Arrigo S.; Sousa S. B.; Hennekam R. C. M.; Sadikovic B.; Thevenon J.; Govin J.; Vitobello A.; Brunetti-Pierri N.
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
2018 Peron, Angela; Vignoli, Aglaia; Briola, Francesca La; Morenghi, Emanuela; Tansini, Lucia; Alfano, Rosa Maria; Bulfamante, Gaetano; Terraneo, Silvia; Ghelma, Filippo; Banderali, Giuseppe; Viskochil, David H.; Carey, John C.; Canevini, Maria Paola
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
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.
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 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
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation | 2017 | Ronzoni L.; Novelli A.; Brisighelli G.; Peron A.; Triulzi F.; Bianchi V.; Leva E.; Bedeschi M. F. | |
| 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 | Ilaria Catusi; Maria Garzo; Anna Paola Capra; Silvana Briuglia; Chiara Baldo; Maria Paola Canevini; Rachele Cantone; Flaviana Elia; Francesca Forzano; Ornella Galesi; Enrico Grosso; Michela Malacarne; Angela Peron; Corrado Romano; Monica Saccani; Lidia Larizza; Maria Paola Recalcati | |
| Aortic dilation in Sotos syndrome : an underestimated feature? | 2020 | Pezzani L.; Mauri L.; Selicorni A.; Peron A.; Grasso M.; Codazzi A. C.; Rimini A.; Marchisio P. G.; Coviello D.; Colli A.; Milani D. | |
| 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 | Angela Peron; 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; Ange-Line Bruel (O)yvind L(o)vold Busk; 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 | |
| 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 A.; Rozenberg M.; Smith C. A. | |
| Characterization of intellectual disability and autism comorbidity through gene panel sequencing | 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 D.; Peron A.; Sartori S.; Toldo I.; Soli F.; Turolla L.; Stanzial F.; Benedicenti F.; Marino-Buslje C.; Tosatto S. C. E.; Murgia A.; Leonardi E. | |
| Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions | 2023 | Verscaj, Courtney P; Velez-Bartolomei, Frances; Bodle, Ethan; Chan, Katie; Lyons, Michael J; Thorson, Willa; Tan, Wen-Hann; Rodig, Nancy; Graham, John M; Peron, Angela; Quintero-Rivera, Fabiola; Zackai, Elaine H; Thomas, Mary Ann; Stevens, Cathy A; Adam, Margaret P; Bird, Lynne M; Jones, Marilyn C; Matalon, Dena R | |
| Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies | 2021 | Parodi, Chiara; Di Fede, Elisabetta; Peron, Angela; Viganò, Ilaria; Grazioli, Paolo; Castiglioni, Silvia; Finnell, Richard H.; Gervasini, Cristina; Vignoli, Aglaia; Massa, Valentina | |
| 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 | Peron A.; Schwartz C. E. | |
| Current concepts on epilepsy management in tuberous sclerosis complex | 2018 | Canevini M. P.; Kotulska-Jozwiak K.; Curatolo P.; La Briola F.; Peron A.; Slowinska M.; Strzelecka J.; Vignoli A.; Jozwiak S. | |
| De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females | 2020 | Scala M.; Zonneveld-Huijssoon E.; Brienza M.; Mecarelli O.; van der Hout A. H.; Zambrelli E.; Turner K.; Zara F.; Peron A.; Vignoli A.; Striano P. | |
| 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 | Cappuccio G.; Sayou C.; Tanno P. L.; Tisserant E.; Bruel A. -L.; Kennani S. E.; Sa J.; Low K. J.; Dias C.; Havlovicova M.; Hancarova M.; Eichler E. E.; Devillard F.; Moutton S.; Van-Gils J.; Dubourg C.; Odent S.; Gerard B.; Piton A.; Yamamoto T.; Okamoto N.; Firth H.; Metcalfe K.; Moh A.; Chapman K. A.; Aref-Eshghi E.; Kerkhof J.; Torella A.; Nigro V.; Perrin L.; Piard J.; Le Guyader G.; Jouan T.; Thauvin-Robinet C.; Duffourd Y.; George-Abraham J. K.; Buchanan C. A.; Williams D.; Kini U.; Wilson K.; Nigro V.; Brunetti-Pierri N.; Casari G.; Cappuccio G.; Torella A.; Pinelli M.; Musacchia F.; Mutarelli M.; Carrella D.; Vitiello G.; Capra V.; Parenti G.; Leuzzi V.; Selicorni A.; Maitz S.; Banfi S.; Zollino M.; Montomoli M.; Milani D.; Romano C.; Tummolo A.; De Brasi D.; Coppola A.; Santoro C.; Peron A.; Pantaleoni C.; Castello R.; D'Arrigo S.; Sousa S. B.; Hennekam R. C. M.; Sadikovic B.; Thevenon J.; Govin J.; Vitobello A.; Brunetti-Pierri N. | |
| Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 | 2018 | Peron, Angela; Vignoli, Aglaia; Briola, Francesca La; Morenghi, Emanuela; Tansini, Lucia; Alfano, Rosa Maria; Bulfamante, Gaetano; Terraneo, Silvia; Ghelma, Filippo; Banderali, Giuseppe; Viskochil, David H.; Carey, John C.; Canevini, Maria Paola | |
| Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder | 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. | |
| 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 | 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 | |
| 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 |