Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Pasquale Tomaiuolo"'
Autor:
Francesca Cucinotta, Carla Lintas, Pasquale Tomaiuolo, Marco Baccarin, Chiara Picinelli, Paola Castronovo, Roberto Sacco, Ignazio Stefano Piras, Laura Turriziani, Arianna Ricciardello, Maria Luisa Scattoni, Antonio M. Persico
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023)
Abstract Background Autism spectrum disorder (ASD) is characterized by high heritability estimates and recurrence rates; its genetic underpinnings are very heterogeneous and include variable combinations of common and rare variants. Array‐comparati
Externí odkaz:
https://doaj.org/article/0179a71ad8f24f04b221a0f378854198
Autor:
Pasquale Tomaiuolo, Ignazio Stefano Piras, Simona Baghai Sain, Chiara Picinelli, Marco Baccarin, Paola Castronovo, Marco J. Morelli, Dejan Lazarevic, Maria Luisa Scattoni, Giovanni Tonon, Antonio M. Persico
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Autism spectrum disorder (ASD) is a neurodevelopmental condition with onset in early childhood, still diagnosed only through clinical observation due to the lack of laboratory biomarkers. Early detection strategies would be especially useful
Externí odkaz:
https://doaj.org/article/145eb5975dc34ca795f6127c1f2c4542
Autor:
Fethia Chehbani, Pasquale Tomaiuolo, Chiara Picinelli, Marco Baccarin, Paola Castronovo, Maria Luisa Scattoni, Naoufel Gaddour, Antonio M. Persico
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 8, Pp n/a-n/a (2022)
Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic underpinnings. Microarray‐based comparative genomic hybridization (aCGH) technology has been proposed as a first‐level test in the genetic dia
Externí odkaz:
https://doaj.org/article/096cc6da0abe458cb193eb81c009335f
Autor:
Francesca Cucinotta, Arianna Ricciardello, Laura Turriziani, Giorgia Calabrese, Marilena Briguglio, Maria Boncoddo, Fabiana Bellomo, Pasquale Tomaiuolo, Silvia Martines, Marianna Bruschetta, Francesca La Fauci Belponer, Tiziana Di Bella, Costanza Colombi, Marco Baccarin, Chiara Picinelli, Paola Castronovo, Carla Lintas, Roberto Sacco, Thomas Biederer, Barbara Kellam, Stephen W. Scherer, Antonio M. Persico
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Children with autism spectrum disorder (ASD) display impressive clinical heterogeneity, also involving treatment response. Genetic variants can contribute to explain this large interindividual phenotypic variability. Methods Array
Externí odkaz:
https://doaj.org/article/fad1dd81389e4f15bb4c6f2937598d76
Autor:
Massimo Terzolo, Salvatore Grisanti, Maria Scatolini, Pasquale Tomaiuolo, Enrico Grosso, Vittoria Basile, Deborah Cosentini, Soraya Puglisi, Marta Lagana, Paola Perotti, Elisa Rossini, Sandra Sigala, Marco Volante, Alfredo Berruti
Publikováno v:
Endocrine Abstracts.
Autor:
Fethia Chehbani, Pasquale Tomaiuolo, Chiara Picinelli, Marco Baccarin, Paola Castronovo, Maria Luisa Scattoni, Naoufel Gaddour, Antonio M. Persico
Publikováno v:
Molecular Genetics & Genomic Medicine. 10
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic underpinnings. Microarray-based comparative genomic hybridization (aCGH) technology has been proposed as a first-level test in the genetic diagnosis of ASD and of neu
Huntingtin gene CAG repeat size affects autism risk: Family‐based and case–control association study
Autor:
Chiara Zuccato, Ignazio S. Piras, Lorenzo Nanetti, Elena Cattaneo, Francesca Cucinotta, Caterina Mariotti, Pasquale Tomaiuolo, Marco Baccarin, Laura Turriziani, Arianna Ricciardello, Antonio M. Persico, Raffaele Iennaco, Carla Lintas, Chiara Picinelli, Paola Castronovo, Roberto Sacco, Cinzia Gellera
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 183:341-351
The Huntingtin (HTT) gene contains a CAG repeat in exon 1, whose expansion beyond 39 repeats consistently leads to Huntington's disease (HD), whereas normal-to-intermediate alleles seemingly modulate brain structure, function and behavior. The role o
Autor:
Roberto Sacco, Marco Baccarin, Arianna Ricciardello, Antonio M. Persico, Paola Castronovo, Francesca Cucinotta, Pasquale Tomaiuolo, Myriam Frittoli, Carla Lintas, Chiara Picinelli
Publikováno v:
Clinical Genetics. 97:125-137
Neurexins are presynaptic cell adhesion molecules critically involved in synaptogenesis and vesicular neurotransmitter release. They are encoded by three genes (NRXN1-3), each yielding a longer alpha (α) and a shorter beta (β) transcript. Deletions
Publikováno v:
American Journal of Medical Genetics. Part a
Phelan‐McDermid syndrome (PMS, OMIM #606232), also known as chromosome 22q13 deletion syndrome, is a rare genetic disorder characterized by intellectual disability, hypotonia, delayed or absent speech, motor impairment, autism spectrum disorder, be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71e310205cb8e23212fa530fe8a53b88
https://hdl.handle.net/11380/1251050
https://hdl.handle.net/11380/1251050
Autor:
Marilena Briguglio, Francesca La Fauci Belponer, Giorgia Calabrese, Tiziana Di Bella, Silvia Martines, Barbara Kellam, Maria Boncoddo, Marianna Bruschetta, Marco Baccarin, Stephen W. Scherer, Laura Turriziani, Roberto Sacco, Paola Castronovo, Francesca Cucinotta, Antonio M. Persico, Chiara Picinelli, Pasquale Tomaiuolo, Thomas Biederer, Fabiana Bellomo, Arianna Ricciardello, Costanza Colombi, Carla Lintas
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Background Children with autism spectrum disorder (ASD) display impressive clinical heterogeneity, also involving treatment response. Genetic variants can contribute to explain this large interindividual phenotypic variability. Methods Array‐CGH (a