Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Francesco Scibelli"'
Autor:
Paolo Alfieri, Francesco Scibelli, Federica Alice Maria Montanaro, Cristina Caciolo, Paola Bergonzini, Maria Lisa Dentici, Stefano Vicari
Publikováno v:
Frontiers in Psychiatry, Vol 13 (2022)
Interstitial deletions of 7q11.23 cause the well-known Williams–Beuren Syndrome (WBS), while duplication of the same region leads to duplication 7 syndrome (Dup7). Children with WBS share a distinct neurobehavioral phenotype including mild to sever
Externí odkaz:
https://doaj.org/article/bf3541fdd6ae4649a80aa029787802b0
Autor:
Paolo Alfieri, Francesco Scibelli, Laura Casula, Simone Piga, Eleonora Napoli, Giovanni Valeri, Stefano Vicari
Publikováno v:
Brain Sciences, Vol 12, Iss 1, p 8 (2021)
Children with fragile X syndrome and William Beuren syndrome share several socio-communicative deficits. In both populations, around 30/35% of individuals meets criteria for autism spectrum disorder on gold standard instruments. Notwithstanding, few
Externí odkaz:
https://doaj.org/article/e525c69ec7c74e4cb12e55351238e769
Autor:
Paolo Alfieri, Francesca Cumbo, Giulia Serra, Monia Trasolini, Camilla Frattini, Francesco Scibelli, Serena Licchelli, Flavia Cirillo, Cristina Caciolo, Maria Pia Casini, Adele D’Amico, Marco Tartaglia, Maria Cristina Digilio, Rossella Capolino, Stefano Vicari
Publikováno v:
Brain Sciences, Vol 11, Iss 2, p 233 (2021)
Noonan syndrome (NS) is a dominant clinically variable and genetically heterogeneous developmental disorder caused by germ-line mutations encoding components of the Ras–MAPK signaling pathway. A few studies have investigated psychopathological feat
Externí odkaz:
https://doaj.org/article/29dfd9051c164f5f831e577089260789
Autor:
Maria Lisa Dentici, Paola Bergonzini, Francesco Scibelli, Cristina Caciolo, Paola De Rose, Francesca Cumbo, Viola Alesi, Rossella Capolino, Ginevra Zanni, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Maria Cristina Digilio, Bruno Dallapiccola, Stefano Vicari, Paolo Alfieri
Publikováno v:
Brain Sciences, Vol 10, Iss 11, p 839 (2020)
7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams–Beuren Syndrome critical region. Dup7q11.23 has been associated with several neuro-behavioral characte
Externí odkaz:
https://doaj.org/article/1ed9f4cb0624424c914be8f1e24d62f5
Autor:
Antonella Sferra, Stefania Petrini, Emanuele Bellacchio, Francesco Nicita, Francesco Scibelli, Maria Lisa Dentici, Paolo Alfieri, Gianluca Cestra, Enrico Silvio Bertini, Ginevra Zanni
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 4, p 1385 (2020)
Tubulinopathies are rare neurological disorders caused by alterations in tubulin structure and function, giving rise to a wide range of brain abnormalities involving neuronal proliferation, migration, differentiation and axon guidance. TUBB is one of
Externí odkaz:
https://doaj.org/article/de9652c9f72a46c5979e78a441565fcf
Autor:
Elisa Fucà, Giovanni Valeri, Stefano Vicari, Francesco Scibelli, Silvia Guerrera, Paolo Alfieri, Elisabetta Lupi
Publikováno v:
Autism research : official journal of the International Society for Autism ResearchREFERENCES. 14(9)
Parents of people with autism spectrum disorder experience both negative stressful and positive events. Several clinical and socio-demographic features of children on the autism spectrum have been associated with parenting stress in their families. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f1bb9f5e3b6514e12c1b29088dec2dc
https://pubmed.ncbi.nlm.nih.gov/34013607
https://pubmed.ncbi.nlm.nih.gov/34013607
Autor:
Francesca Cumbo, Flavia Cirillo, Paolo Alfieri, Maria Pia Casini, Rossella Capolino, Monia Trasolini, Serena Licchelli, Giulia Serra, Francesco Scibelli, Maria Cristina Digilio, Adele D'Amico, Marco Tartaglia, Camilla Frattini, Stefano Vicari, Cristina Caciolo
Publikováno v:
Brain Sciences
Brain Sciences, Vol 11, Iss 233, p 233 (2021)
Volume 11
Issue 2
Brain Sciences, Vol 11, Iss 233, p 233 (2021)
Volume 11
Issue 2
Noonan syndrome (NS) is a dominant clinically variable and genetically heterogeneous developmental disorder caused by germ-line mutations encoding components of the Ras–MAPK signaling pathway. A few studies have investigated psychopathological feat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f1e7c6ca4c13ed06548f2ca96bdda5
http://europepmc.org/articles/PMC7918671
http://europepmc.org/articles/PMC7918671
Autor:
Roberta Lucia Novello, Maria Cristina Digilio, Stefano Vicari, Paolo Alfieri, Cristina Caciolo, Giovanni Valeri, Francesco Scibelli
Publikováno v:
Autism research : official journal of the International Society for Autism ResearchREFERENCES. 14(4)
Williams Beuren syndrome (WBS) and autism spectrum disorder (ASD) have been long considered as "polar opposite" disorders. Although children with WBS appears to be hypersociable, recent researches have revealed difficulties in socio-communicative ski
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f12d9034ba2f74735bb70b588191989
https://pubmed.ncbi.nlm.nih.gov/33314766
https://pubmed.ncbi.nlm.nih.gov/33314766
Autor:
Francesco Scibelli, Viola Alesi, Ginevra Zanni, Cristina Caciolo, Bruno Dallapiccola, Maria Cristina Digilio, Paola De Rose, Maria Lisa Dentici, Lorenzo Sinibaldi, Marco Tartaglia, Paolo Alfieri, Rossella Capolino, Paola Bergonzini, Stefano Vicari, Antonio Novelli, Francesca Cumbo
Publikováno v:
Brain Sciences, Vol 10, Iss 839, p 839 (2020)
Brain Sciences
Volume 10
Issue 11
Brain Sciences
Volume 10
Issue 11
7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams&ndash
Beuren Syndrome critical region. Dup7q11.23 has been associated with several neuro-behavioral
Beuren Syndrome critical region. Dup7q11.23 has been associated with several neuro-behavioral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14337490cf62a762ea57e5c61458f2e7
https://www.mdpi.com/2076-3425/10/11/839
https://www.mdpi.com/2076-3425/10/11/839
Autor:
Francesco Scibelli, Stefano Vicari, Maria Cristina Digilio, Paolo Alfieri, Cristina Caciolo, Antonio Novelli, Marco Tartaglia, Giovanni Valeri, Lorenzo Sinibaldi, Roberta Lucia Novello
Increasing evidence links heterozygosity for NRXN1 gene deletions to a clinically wide spectrum of neurodevelopmental, psychiatric, and neurological disorders. However, to date, the neurocognitive and social communication features of children carryin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e7d77228254d757d399a75caee2435b
http://hdl.handle.net/10807/179894
http://hdl.handle.net/10807/179894
