Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Maria Cristina, Scaduto"'
Autor:
Marta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Laura Sandoni, Irene Baravelli, Cinzia Cameli, Magali J. Rochat, Alessandra Maresca, Alessandro Vaisfeld, Davide Gentilini, Luciano Calzari, Valerio Carelli, Michael C. Zody, Elena Maestrini, Elena Bacchelli
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-15 (2024)
Abstract Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We performed whole genome and/or exome sequencing (WGS and WES) and SNP-array a
Externí odkaz:
https://doaj.org/article/9acf2625b96d4dc9b71c18093b1268fb
Autor:
Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Martina Romagnoli, Flavia Baccari, Corrado Zenesini, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Danara Ormanbekova, Agatino Battaglia, Raffaella Tancredi, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Maestrini, Magali Jane Rochat, Elena Bacchelli, Valerio Carelli, Alessandra Maresca
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Autism spectrum disorder (ASD) is a clinically heterogeneous class of neurodevelopmental conditions with a strong, albeit complex, genetic basis. The genetic architecture of ASD includes different genetic models, from monogenic transmission at one en
Externí odkaz:
https://doaj.org/article/1c62301bd7b6428bb828f81a3fca9fbf
Autor:
Marta Viggiano, Tiziano D'Andrea, Cinzia Cameli, Annio Posar, Paola Visconti, Maria Cristina Scaduto, Roberta Colucci, Magali J. Rochat, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Elena Maestrini, Elena Bacchelli
Publikováno v:
Frontiers in Psychiatry, Vol 13 (2022)
Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with a strong genetic component. The genetic architecture is complex, consisting of a combination of common low-risk and more penetrant rare variants. Voltage-gated ca
Externí odkaz:
https://doaj.org/article/e10238dc37c34dca979b890d533909f4
Autor:
Magali Jane Rochat, Giacomo Distefano, Monica Maffei, Francesco Toni, Annio Posar, Maria Cristina Scaduto, Federica Resca, Cinzia Cameli, Elena Bacchelli, Elena Maestrini, Paola Visconti
Publikováno v:
Brain Sciences, Vol 10, Iss 10, p 741 (2020)
We examined the potential benefits of neuroimaging measurements across the first 5 years of life in detecting early comorbid or etiological signs of autism spectrum disorder (ASD). In particular, we analyzed the prevalence of neuroradiologic findings
Externí odkaz:
https://doaj.org/article/2175ff675d6c40fcaad7d0783ad53b7e
Autor:
Marta, Viggiano, Tiziano, D'Andrea, Cinzia, Cameli, Annio, Posar, Paola, Visconti, Maria Cristina, Scaduto, Roberta, Colucci, Magali J, Rochat, Fabiola, Ceroni, Giorgio, Milazzo, Sergio, Fucile, Elena, Maestrini, Elena, Bacchelli
Publikováno v:
Frontiers in psychiatry. 13
Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with a strong genetic component. The genetic architecture is complex, consisting of a combination of common low-risk and more penetrant rare variants. Voltage-gated ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::60314e8badf4c73573978cd496fa444b
https://pubmed.ncbi.nlm.nih.gov/35350424
https://pubmed.ncbi.nlm.nih.gov/35350424
Autor:
Paola Visconti, Maria Cristina Scaduto, Federica Resca, Francesco Toni, Giacomo Distefano, Elena Bacchelli, Magali Jane Rochat, Monica Maffei, Annio Posar, Cinzia Cameli, Elena Maestrini
Publikováno v:
Brain Sciences
Brain Sciences, Vol 10, Iss 741, p 741 (2020)
Volume 10
Issue 10
Brain Sciences, Vol 10, Iss 741, p 741 (2020)
Volume 10
Issue 10
We examined the potential benefits of neuroimaging measurements across the first 5 years of life in detecting early comorbid or etiological signs of autism spectrum disorder (ASD). In particular, we analyzed the prevalence of neuroradiologic findings
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc3951e3d75def370549fd99a052110d
https://pubmed.ncbi.nlm.nih.gov/33081247
https://pubmed.ncbi.nlm.nih.gov/33081247
Autor:
Paola Visconti, Magali Jane Rochat, Maria Cristina Scaduto, Leonardo Caporali, Elena Bacchelli, Cinzia Cameli, Marco Seri, Renée C. Duardo, Valerio Carelli, Flavia Palombo, Elena Maestrini, Alessandra Maresca, Fabiola Ceroni, Annio Posar, Pamela Magini, Marta Viggiano, Claudio Fiorini
Publikováno v:
Journal of Cellular and Molecular Medicine
Autism spectrum disorder (ASD) is characterized by a complex polygenic background, but with the unique feature of a subset of cases (~15%‐30%) presenting a rare large‐effect variant. However, clinical interpretation in these cases is often compli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff61dcabffe3e239ad59cd1950740299
http://hdl.handle.net/11585/795590
http://hdl.handle.net/11585/795590
Autor:
Paola Visconti, Federica Tamburrino, Angelo Russo, Laura Mazzanti, Annio Posar, Maria Cristina Scaduto
Publikováno v:
Journal of Pediatric Neurosciences
Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disease characterized by end-organ resistance to parathyroid hormone. In adulthood, heterogeneous neurological and psychiatric disorders have been reported which are associated with hypop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::409124ebc0cfb40ed46f75ad7ef8147a
http://europepmc.org/articles/PMC5108139
http://europepmc.org/articles/PMC5108139
Autor:
Giulia Barcia, Maria Cristina Scaduto, Margherita Santucci, Antonia Parmeggiani, Annio Posar, Elena Raimondi
Publikováno v:
Brain and Development. 32:783-789
The occurrence of epilepsy in autism is variable; nevertheless, EEG paroxysmal abnormalities (PA) are frequently recorded in patients with autism, although the influence of epilepsy and/or EEG PA on the autistic regression has not been clarified yet.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::654e8047543539159678be4a4e180b8a
https://doi.org/10.1016/j.braindev.2010.07.003
https://doi.org/10.1016/j.braindev.2010.07.003
Autor:
Maria Cristina Scaduto, Simonetta Sangiorgi, Annalisa Arbizzani, Maria Rita Tedde, Annio Posar, Margherita Santucci, Antonia Parmeggiani
Publikováno v:
Journal of child neurology. 24(6)
Methyl-CpG-binding protein 2 (MECP2) gene mutations have been identified in girls with Rett syndrome and in boys with heterogeneous neuropsychiatric disorders. Because of the limited or inconsistent data reported in literature, the role of methyl-CpG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e431474b7f5cdef4a3beb1481502119
https://pubmed.ncbi.nlm.nih.gov/19189931
https://pubmed.ncbi.nlm.nih.gov/19189931