Phenotypic spectrum of NRXN1 mono‐ and bi‐allelic deficiency: A systematic review
Castronovo, Paola, Baccarin, Marco, Ricciardello, Arianna, Picinelli, Chiara, Tomaiuolo, Pasquale, Cucinotta, Francesca, Frittoli, Myriam, Lintas, Carla, Sacco, Roberto, Persico, Antonio M.
Published in Clinical genetics (01.01.2020)
Published in Clinical genetics (01.01.2020)
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Journal Article
RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder
Tomaiuolo, Pasquale, Piras, Ignazio Stefano, Sain, Simona Baghai, Picinelli, Chiara, Baccarin, Marco, Castronovo, Paola, Morelli, Marco J, Lazarevic, Dejan, Scattoni, Maria Luisa, Tonon, Giovanni, Persico, Antonio M
Published in Scientific reports (16.01.2023)
Published in Scientific reports (16.01.2023)
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Journal Article
Yield of array‐CGH analysis in Tunisian children with autism spectrum disorder
Chehbani, Fethia, Tomaiuolo, Pasquale, Picinelli, Chiara, Baccarin, Marco, Castronovo, Paola, Scattoni, Maria Luisa, Gaddour, Naoufel, Persico, Antonio M.
Published in Molecular genetics & genomic medicine (01.08.2022)
Published in Molecular genetics & genomic medicine (01.08.2022)
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Journal Article
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Rusconi, Daniela, Negri, Gloria, Colapietro, Patrizia, Picinelli, Chiara, Milani, Donatella, Spena, Silvia, Magnani, Cinzia, Silengo, Margherita Cirillo, Sorasio, Lorena, Curtisova, Vaclava, Cavaliere, Maria Luigia, Prontera, Paolo, Stangoni, Gabriela, Ferrero, Giovanni Battista, Biamino, Elisa, Fischetto, Rita, Piccione, Maria, Gasparini, Paolo, Salviati, Leonardo, Selicorni, Angelo, Finelli, Palma, Larizza, Lidia, Gervasini, Cristina
Published in Human genetics (01.06.2015)
Published in Human genetics (01.06.2015)
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Journal Article
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes
Crippa, Milena, Bonati, Maria Teresa, Calzari, Luciano, Picinelli, Chiara, Gervasini, Cristina, Sironi, Alessandra, Bestetti, Ilaria, Guzzetti, Sara, Bellone, Simonetta, Selicorni, Angelo, Mussa, Alessandro, Riccio, Andrea, Ferrero, Giovanni Battista, Russo, Silvia, Larizza, Lidia, Finelli, Palma
Published in Frontiers in genetics (15.10.2019)
Published in Frontiers in genetics (15.10.2019)
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Journal Article
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder
Cucinotta, Francesca, Lintas, Carla, Tomaiuolo, Pasquale, Baccarin, Marco, Picinelli, Chiara, Castronovo, Paola, Sacco, Roberto, Piras, Ignazio Stefano, Turriziani, Laura, Ricciardello, Arianna, Scattoni, Maria Luisa, Persico, Antonio M.
Published in Molecular genetics & genomic medicine (01.08.2023)
Published in Molecular genetics & genomic medicine (01.08.2023)
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Journal Article
FARP‐1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family
Cucinotta, Francesca, Ricciardello, Arianna, Turriziani, Laura, Calabrese, Giorgia, Briguglio, Marilena, Boncoddo, Maria, Bellomo, Fabiana, Tomaiuolo, Pasquale, Martines, Silvia, Bruschetta, Marianna, La Fauci Belponer, Francesca, Di Bella, Tiziana, Colombi, Costanza, Baccarin, Marco, Picinelli, Chiara, Castronovo, Paola, Lintas, Carla, Sacco, Roberto, Biederer, Thomas, Kellam, Barbara, Scherer, Stephen W., Persico, Antonio M.
Published in Molecular genetics & genomic medicine (01.09.2020)
Published in Molecular genetics & genomic medicine (01.09.2020)
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Journal Article
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders
Picinelli, Chiara, Lintas, Carla, Piras, Ignazio Stefano, Gabriele, Stefano, Sacco, Roberto, Brogna, Claudia, Persico, Antonio Maria
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.12.2016)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.12.2016)
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Journal Article
Appropriateness of array‐CGH in the ADHD clinics: A comparative study
Baccarin, Marco, Picinelli, Chiara, Tomaiuolo, Pasquale, Castronovo, Paola, Costa, Anna, Verdecchia, Magda, Cannizzaro, Chiara, Barbieri, Giusi, Sacco, Roberto, Persico, Antonio M., Lintas, Carla
Published in Genes, brain and behavior (01.07.2020)
Published in Genes, brain and behavior (01.07.2020)
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Journal Article
Huntingtin gene CAG repeat size affects autism risk: Family‐based and case–control association study
Piras, Ignazio Stefano, Picinelli, Chiara, Iennaco, Raffaele, Baccarin, Marco, Castronovo, Paola, Tomaiuolo, Pasquale, Cucinotta, Francesca, Ricciardello, Arianna, Turriziani, Laura, Nanetti, Lorenzo, Mariotti, Caterina, Gellera, Cinzia, Lintas, Carla, Sacco, Roberto, Zuccato, Chiara, Cattaneo, Elena, Persico, Antonio M.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.09.2020)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.09.2020)
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Journal Article
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes
Lintas, Carla, Picinelli, Chiara, Piras, Ignazio Stefano, Sacco, Roberto, Brogna, Claudia, Persico, Antonio M.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.07.2017)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.07.2017)
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Journal Article
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors
Roversi, Gaia, Picinelli, Chiara, Bestetti, Ilaria, Crippa, Milena, Perotti, Daniela, Ciceri, Sara, Saccheri, Fabiana, Collini, Paola, Poliani, Pietro L, Catania, Serena, Peissel, Bernard, Pagni, Fabio, Russo, Silvia, Peterlongo, Paolo, Manoukian, Siranoush, Finelli, Palma
Published in Scientific reports (20.10.2015)
Published in Scientific reports (20.10.2015)
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Journal Article
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype
Gervasini, Cristina, Parenti, Ilaria, Picinelli, Chiara, Azzollini, Jacopo, Masciadri, Maura, Cereda, Anna, Selicorni, Angelo, Russo, Silvia, Finelli, Palma, Larizza, Lidia
Published in European journal of medical genetics (01.03.2013)
Published in European journal of medical genetics (01.03.2013)
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Journal Article
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
Gervasini, Cristina, Picinelli, Chiara, Azzollini, Jacopo, Rusconi, Daniela, Masciadri, Maura, Cereda, Anna, Marzocchi, Cinzia, Zampino, Giuseppe, Selicorni, Angelo, Tenconi, Romano, Russo, Silvia, Larizza, Lidia, Finelli, Palma
Published in BMC genetics (03.04.2013)
Published in BMC genetics (03.04.2013)
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Journal Article
An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient
Lintas, Carla, Sacco, Roberto, Tabolacci, Claudio, Brogna, Claudia, Canali, Marco, Picinelli, Chiara, Tomaiuolo, Pasquale, Castronovo, Paola, Baccarin, Marco, Persico, Antonio M.
Published in Molecular syndromology (01.01.2018)
Published in Molecular syndromology (01.01.2018)
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Journal Article
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls
Parenti, Ilaria, Rovina, Davide, Masciadri, Maura, Cereda, Anna, Azzollini, Jacopo, Picinelli, Chiara, Limongelli, Giuseppe, Finelli, Palma, Selicorni, Angelo, Russo, Silvia, Gervasini, Cristina, Larizza, Lidia
Published in Epigenetics (01.07.2014)
Published in Epigenetics (01.07.2014)
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Journal Article
Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features
Lintas, Carla, Picinelli, Chiara, Piras, Ignazio S., Sacco, Roberto, Gabriele, Stefano, Verdecchia, Magda, Persico, Antonio M.
Published in Molecular syndromology (01.02.2016)
Published in Molecular syndromology (01.02.2016)
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Journal Article
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
Crippa, Milena, Bestetti, Ilaria, Perotti, Mario, Castronovo, Chiara, Tabano, Silvia, Picinelli, Chiara, Grassi, Guido, Larizza, Lidia, Pincelli, Angela Ida, Finelli, Palma
Published in BMC genetics (02.05.2014)
Published in BMC genetics (02.05.2014)
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