VISCONTI, PAOLA
VISCONTI, PAOLA
AFORM - AREA FORMAZIONE E DOTTORATO
Collaboratori
Advanced glycation endproducts, dityrosine and arginine transporter dysfunction in autism - a source of biomarkers for clinical diagnosis.
2018 Attia Anwar, Provvidenza Maria Abruzzo, Sabah Pasha, Kashif Rajpoot, Alessandra Bolotta, Alessandro Ghezzo, Marina Marini, Annio Posar, Paola Visconti, Paul J. Thornalley, Naila Rabbani
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
2021 Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC, Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E.
Authors' reply: "Autism in 2016: additional discovery".
2017 Posar, Annio; Visconti, Paola.
Autism in 2016: the need for answers.
2017 Annio, Posar; Paola, Visconti
Autism Spectrum Disorder and Narcolepsy: A Possible Connection That Deserves to Be Investigated.
2020 Posar A, Visconti P, Blunda V, Pizza F, Plazzi G.
Autism Spectrum Disorder and the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5): The Experience of 10 Years.
2023 Posar Annio; Visconti Paola
Autism Spectrum Disorder in 2023: A Challenge Still Open.
2023 Posar Annio; Visconti Paola
Autism spectrum disorder today: not only genetics.
2019 Posar A., Visconti P.
Autism Spectrum Disorders: The Troubles with the Diagnostic and Statistical Manual of Mental Disorders 5(th) Edition.
2017 Posar, Annio; Visconti, Paola
Case report: caratterizzazione fenotipica ed epilettica della microdelezione e della microduplicazione a carico del 15q13.3. Il ruolo del gene CHRNA7
2013 O. Daolio; A. Boni; P. Visconti; F. Resca; A. Posar; M. Santucci
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders
2019 Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti, Antonia Parmeggiani, Marco Seri, Claudio Graziano
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield
2023 Giulia Olivucci, Giulia Severi, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Claudio Graziano, Marco seri, Pamela Magini
Cognitive deterioration in childhood: Never forget electrical status epilepticus during slow-wave sleep.
2023 Posar Annio; Visconti Paola
Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility
2022 Marta Viggiano, Tiziano D’Andrea, Cinzia Cameli, Annio Posar, Paola Visconti, Maria Cristina Scaduto, Roberta Colucci, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Elena Maestrini, Elena Bacchelli
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
2022 Viggiano, Marta; D'Andrea, Tiziano; Cameli, Cinzia; Posar, Annio; Visconti, Paola; Scaduto, Maria Cristina; Colucci, Roberta; Rochat, Magali J.; Ceroni, Fabiola; Milazzo, Giorgio; Fucile, Sergio; Maestrini, Elena; Bacchelli, Elena
Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility
2022 Marta Viggiano, Tiziano D'Andrea, Cinzia Cameli, Annio Posar, Maria C. Scaduto, Roberta Colucci, Magalì Rochat, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Paola Visconti, Elena Bacchelli, Elena Maestrini
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder
2022 Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Romagnoli, Martina; Baccari, Flavia; Zenesini, Corrado; Visconti, Paola; Posar, Annio; Scaduto, Maria Cristina; Ormanbekova, Danara; Battaglia, Agatino; Tancredi, Raffaella; Cameli, Cinzia; Viggiano, Marta; Olivieri, Anna; Torroni, Antonio; Maestrini, Elena; Rochat, Magali Jane; Bacchelli, Elena; Carelli, Valerio; Maresca, Alessandra
Early Motor Signs in Autism Spectrum Disorder.
2022 Posar Annio; Visconti Paola
First report of an interstitial 2q24.2 microduplication involving a master regulator of autism risk genes in a patient with a severe neurodevelopmental phenotype.
2017 Castronovo, C; Sironi, A; Recalcati, Mp; Catusi, I; Giardino, D; Larizza, L; Posar, A; Visconti, P; Finelli, P.
High predictive values of RBC membrane-based diagnostics by biophotonics in an integrated approach for Autism Spectrum Disorders
2017 Giacometti, Giorgia; Ferreri, Carla; Sansone, Anna; Chatgilialoglu, Chryssostomos; Marzetti, Carla; Spyratou, Ellas; Georgakilas, Alexandros G; Marini, Marina; Abruzzo, Provvidenza M; Bolotta, Alessandra; Ghezzo, Alessandro; Minguzzi, Renato; Posar, Annio; Visconti, Paola
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Advanced glycation endproducts, dityrosine and arginine transporter dysfunction in autism - a source of biomarkers for clinical diagnosis. |
Attia Anwar, Provvidenza Maria Abruzzo, Sabah Pasha, Kashif Rajpoot, Alessandra Bolotta, Alessan...dro Ghezzo, Marina Marini, Annio Posar, Paola Visconti, Paul J. Thornalley, Naila Rabbani |
2018-01-01 | MOLECULAR AUTISM | - | 1.01 Articolo in rivista | document(2).pdf |
| An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. | Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC..., Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E. | 2021-01-01 | JOURNAL OF CELLULAR AND MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | jcmm.16161.pdf |
| Authors' reply: "Autism in 2016: additional discovery". | Posar, Annio; Visconti, Paola. | 2017-01-01 | JORNAL DE PEDIATRIA | - | 1.04 Replica / breve intervento (e simili) | - |
| Autism in 2016: the need for answers. | Annio, Posar; Paola, Visconti | 2017-01-01 | JORNAL DE PEDIATRIA | - | 1.01 Articolo in rivista | 1-s2.0-S0021755716302443-main.pdf |
| Autism Spectrum Disorder and Narcolepsy: A Possible Connection That Deserves to Be Investigated. | Posar A, Visconti P, Blunda V, Pizza F, Plazzi G. | 2020-01-01 | FRONTIERS IN PSYCHIATRY | - | 1.01 Articolo in rivista | Autism Spectrum Disorder and Narcolepsy.pdf |
| Autism Spectrum Disorder and the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5): The Experience of 10 Years. | Posar Annio; Visconti Paola | 2023-01-01 | TURK PEDIATRI ARSIVI | - | 1.04 Replica / breve intervento (e simili) | - |
| Autism Spectrum Disorder in 2023: A Challenge Still Open. | Posar Annio; Visconti Paola | 2023-01-01 | TURK PEDIATRI ARSIVI | - | 1.01 Articolo in rivista | - |
| Autism spectrum disorder today: not only genetics. | Posar A., Visconti P. | 2019-01-01 | TURK PEDIATRI ARSIVI | - | 1.01 Articolo in rivista | - |
| Autism Spectrum Disorders: The Troubles with the Diagnostic and Statistical Manual of Mental Disorders 5(th) Edition. | Posar, Annio; Visconti, Paola | 2017-01-01 | JOURNAL OF PEDIATRIC NEUROSCIENCES | - | 1.04 Replica / breve intervento (e simili) | - |
| Case report: caratterizzazione fenotipica ed epilettica della microdelezione e della microduplicazione a carico del 15q13.3. Il ruolo del gene CHRNA7 | O. Daolio; A. Boni; P. Visconti; F. Resca; A. Posar; M. Santucci | 2013-01-01 | - | - | 4.02 Riassunto (Abstract) | - |
| Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders |
Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, ...Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti, Antonia Parmeggiani, Marco Seri, Claudio Graziano |
2019-01-01 | GENE | - | 1.01 Articolo in rivista | - |
| Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield | Giulia Olivucci, Giulia Severi, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Claudio Graz...iano, Marco seri, Pamela Magini | 2023-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.06 Abstract in rivista | - |
| Cognitive deterioration in childhood: Never forget electrical status epilepticus during slow-wave sleep. | Posar Annio; Visconti Paola | 2023-01-01 | BRAIN CIRCULATION | - | 1.04 Replica / breve intervento (e simili) | - |
| Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility |
Marta Viggiano, Tiziano D’Andrea, Cinzia Cameli, Annio Posar, Paola Visconti, Maria Cristina Scad...uto, Roberta Colucci, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Elena Maestrini, Elena Bacchelli |
2022-01-01 | - | - | 4.02 Riassunto (Abstract) | - |
| Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility | Viggiano, Marta; D'Andrea, Tiziano; Cameli, Cinzia; Posar, Annio; Visconti, Paola; Scaduto, Maria... Cristina; Colucci, Roberta; Rochat, Magali J.; Ceroni, Fabiola; Milazzo, Giorgio; Fucile, Sergio; Maestrini, Elena; Bacchelli, Elena | 2022-01-01 | FRONTIERS IN PSYCHIATRY | - | 1.01 Articolo in rivista | Viggiano et al.pdf; Data-Sheet_1.pdf |
| Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility | Marta Viggiano, Tiziano D'Andrea, Cinzia Cameli, Annio Posar, Maria C. Scaduto, Roberta Colucci, ...Magalì Rochat, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Paola Visconti, Elena Bacchelli, Elena Maestrini | 2022-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.06 Abstract in rivista | Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.pdf |
| Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder | Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Romagnoli, Martina; Baccari, Flavia; Zenes...ini, Corrado; Visconti, Paola; Posar, Annio; Scaduto, Maria Cristina; Ormanbekova, Danara; Battaglia, Agatino; Tancredi, Raffaella; Cameli, Cinzia; Viggiano, Marta; Olivieri, Anna; Torroni, Antonio; Maestrini, Elena; Rochat, Magali Jane; Bacchelli, Elena; Carelli, Valerio; Maresca, Alessandra | 2022-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | Caporali_mitogenomce_FrontG2022.pdf |
| Early Motor Signs in Autism Spectrum Disorder. | Posar Annio; Visconti Paola | 2022-01-01 | CHILDREN | - | 1.01 Articolo in rivista | children-09-00294.pdf |
| First report of an interstitial 2q24.2 microduplication involving a master regulator of autism risk genes in a patient with a severe neurodevelopmental phenotype. | Castronovo, C; Sironi, A; Recalcati, Mp; Catusi, I; Giardino, D; Larizza, L; Posar, A; Visconti, ...P; Finelli, P. | 2017-01-01 | - | - | 4.02 Riassunto (Abstract) | - |
| High predictive values of RBC membrane-based diagnostics by biophotonics in an integrated approach for Autism Spectrum Disorders | Giacometti, Giorgia; Ferreri, Carla; Sansone, Anna; Chatgilialoglu, Chryssostomos; Marzetti, Carl...a; Spyratou, Ellas; Georgakilas, Alexandros G; Marini, Marina; Abruzzo, Provvidenza M; Bolotta, Alessandra; Ghezzo, Alessandro; Minguzzi, Renato; Posar, Annio; Visconti, Paola | 2017-01-01 | SCIENTIFIC REPORTS | - | 1.01 Articolo in rivista | s41598-017-10361-7.pdf; 41598_2017_10361_MOESM1_ESM.pdf |