Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Cristina Caciolo"'
Autor:
Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Alessia Brunetti, Alessandra Airoldi, Anna de Florio, Luigi Tinella, Andrea Bosco, Stefano Vicari
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background and objectives Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression. Espansion between 55 and 200 triplets f
Externí odkaz:
https://doaj.org/article/b64a5b5b25b04463802e682d8c874118
Autor:
Floriana Costanzo, Elisa Fucà, Cristina Caciolo, Deborah Ruà, Sara Smolley, Danny Weissberg, Stefano Vicari
Publikováno v:
Frontiers in Psychology, Vol 14 (2023)
IntroductionIndividuals with Down syndrome (DS) often exhibit a severe speech impairment, with important consequences on language intelligibility. For these cases, the use of Augmentative Alternative Communication instruments, that increase an indivi
Externí odkaz:
https://doaj.org/article/0ef29661b7de4d5fac3d421ba449e327
Autor:
Marina Macchiaiolo, Filippo M. Panfili, Davide Vecchio, Michaela V. Gonfiantini, Fabiana Cortellessa, Cristina Caciolo, Marcella Zollino, Maria Accadia, Marco Seri, Marcello Chinali, Corrado Mammì, Marco Tartaglia, Andrea Bartuli, Paolo Alfieri, Manuela Priolo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)
Abstract Background Malan syndrome (MALNS) is a recently described ultrarare syndrome lacking guidelines for diagnosis, management and monitoring of evolutive complications. Less than 90 patients are reported in the literature and limited clinical in
Externí odkaz:
https://doaj.org/article/771316b8f0a6460199ddcc00cf6d0b98
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:
Giulia Lazzaro, Cristina Caciolo, Deny Menghini, Francesca Cumbo, Maria C. Digilio, Rossella Capolino, Giuseppe Zampino, Marco Tartaglia, Stefano Vicari, Paolo Alfieri
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Noonan Syndrome is a developmental disorder characterized by a distinctive phenotype including facial dysmorphism, webbed neck, short stature, heart defects, and variable cognitive deficits as major features. Over the years, neuro
Externí odkaz:
https://doaj.org/article/c76ea86841ba4271b0ef9d4e8607e5fd
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:
Floriana Costanzo, Paolo Alfieri, Cristina Caciolo, Paola Bergonzini, Francesca Perrino, Giuseppe Zampino, Chiara Leoni, Deny Menghini, Maria Cristina Digilio, Marco Tartaglia, Stefano Vicari, Giovanni Augusto Carlesimo
Publikováno v:
Brain Sciences, Vol 11, Iss 2, p 169 (2021)
Noonan syndrome (NS) and the clinically related NS with multiple lentiginous (NMLS) are genetic conditions characterized by upregulated RAS mitogen activated protein kinase (RAS–MAPK) signaling, which is known to impact hippocampus-dependent memory
Externí odkaz:
https://doaj.org/article/f535f04c5d27472898ea44bcb8a7d0ac
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:
Paolo Alfieri, Francesco Demaria, Serena Licchelli, Ornella Santonastaso, Cristina Caciolo, Maria Cristina Digilio, Lorenzo Sinibaldi, Chiara Leoni, Maria Gnazzo, Marco Tartaglia, Patrizio Pasqualetti, Stefano Vicari
Publikováno v:
Brain Sciences, Vol 9, Iss 11, p 313 (2019)
KBG syndrome is a rare multisystem developmental disorder caused by ankyrin repeat domain-containing protein 11 (ANKRD11) gene haploinsufficiency, resulting from either intragenic loss-of-function mutations or microdeletions encompassing the gene. Co
Externí odkaz:
https://doaj.org/article/ac1dc163907e4037a56395c03d5b9d6a
Autor:
Paolo Alfieri, Federica Alice Maria Montanaro, Marina Macchiaiolo, Martina Collotta, Cristina Caciolo, Paolo Galassi, Filippo Maria Panfili, Fabiana Cortellessa, Marcella Zollino, Marcello Chinali, Maria Accadia, Marco Seri, Andrea Bartuli, Corrado Mammì, Marco Tartaglia, Stefano Vicari, Manuela Priolo
Publikováno v:
Frontiers in Child and Adolescent Psychiatry. 2
Malan syndrome (MALNS) is an ultra-rare genetic disorder caused by heterozygous chromosomal microdeletions involving the 19p13.2 region or loss-of-function variants in the NFIX gene. It is characterized by specific phenotypical features, intellectual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3d0816bbcbf10fbc6f92d274de26129
https://doi.org/10.3389/frcha.2023.1106228
https://doi.org/10.3389/frcha.2023.1106228