Decreased serum arylesterase activity in autism spectrum disorders
2010-01-01 Gaita, Laura; Manzi, Barbara; Sacco, Roberto; Lintas, Carla; Altieri, Laura; Lombardi, Federica; Pawlowski, Tracy L; Redman, Margot; Craig, David W; Huentelman, Matthew J; Ober-Reynolds, Sharman; Brautigam, Sarah; Melmed, Raun; Smith, Christopher J; Marsillach, Judith; Camps, Jordi; Curatolo, Paolo; Persico, Antonio M
Genome-wide expression studies in autism spectrum disorder, Rett syndrome, and Down syndrome
2012-01-01 Lintas, Carla; Sacco, Roberto; Persico, Antonio M
Lack of infection with XMRV or other MLV-related viruses in blood, post-mortem brains and paternal gametes of autistic individuals
2011-01-01 Lintas, Carla; Guidi, Francesco; Manzi, Barbara; Mancini, Antonio; Curatolo, Paolo; Persico, Antonio M
Autism genetics: Methodological issues and experimental design
2015-01-01 Sacco, Roberto; Lintas, Carla; Persico, Antonio M
Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features
2016-01-01 Lintas, Carla; Picinelli, Chiara; Piras, Ignazio S; Sacco, Roberto; Gabriele, Stefano; Verdecchia, Magda; Persico, Antonio M
Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects
2016-01-01 Lintas, Carla; Sacco, Roberto; Persico, Antonio M
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders
2016-01-01 Picinelli, Chiara; Lintas, Carla; Piras, Ignazio Stefano; Gabriele, Stefano; Sacco, Roberto; Brogna, Claudia; Persico, Antonio Maria
Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes
2018-01-01 Lintas, C; Persico, A M
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes
2017-01-01 Lintas, Carla; Picinelli, Chiara; Piras, Ignazio Stefano; Sacco, Roberto; Brogna, Claudia; Persico, Antonio M
An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient
2019-01-01 Lintas, Carla; Sacco, Roberto; Tabolacci, Claudio; Brogna, Claudia; Canali, Marco; Picinelli, Chiara; Tomaiuolo, Pasquale; Castronovo, Paola; Baccarin, Marco; Persico, Antonio M
Appropriateness of array-CGH in the ADHD clinics: A comparative study
2020-01-01 Baccarin, Marco; Picinelli, Chiara; Tomaiuolo, Pasquale; Castronovo, Paola; Costa, Anna; Verdecchia, Magda; Cannizzaro, Chiara; Barbieri, Giusi; Sacco, Roberto; Persico, Antonio M; Lintas, Carla
Genetic and epigenetic MTHFR gene variants in the mothers of attention-deficit/hyperactivity disorder affected children as possible risk factors for neurodevelopmental disorders
2020-01-01 Piras, Ignazio Stefano; Costa, Anna; Tirindelli, Maria Cristina; Stoccoro, Andrea; Huentelman, Matthew J; Sacco, Roberto; Coppedè, Fabio; Lintas, Carla
FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family
2020-01-01 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
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders
2022-01-01 Lintas, Carla; Sacco, Roberto; Azzarà, Alessia; Cassano, Ilaria; Laino, Luigi; Grammatico, Paola; Gurrieri, Fiorella
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories
2023-01-01 Amenta, Simona; Marangi, Giuseppe; Orteschi, Daniela; Frangella, Silvia; Gurrieri, Fiorella; Paccagnella, Elisa; Scala, Marcello; Romano, Ferruccio; Capra, Valeria; Nigro, Vincenzo; Zollino, Marcella
RADX Gene Variant May Predispose to Familial Asperger Syndrome
2023-01-01 Azzarà, Alessia; Rumore, Roberto; Brugnoletti, Fulvia; Tabolacci, Elisabetta; Bottillo, Irene; Sangiorgi, Eugenio; Gurrieri, Fiorella
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers
2023-01-01 Sangiorgi, Eugenio; Azzarà, Alessia; Rumore, Roberto; Cassano, Ilaria; Verrecchia, Elena; Giacò, Luciano; Tullio, Maria Alessandra; Gurrieri, Fiorella; Manna, Raffaele
Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment
2023-01-01 Paciaroni, Katia; Sangiorgi, Eugenio; Pulvirenti, Federica; Villiva, Nicoletta; Andrizzi, Cristina; Campagna, Selenia; Tordi, Attilio; Celesti, Francesca; Manna, Raffaele; Gurrieri, Fiorella; Licci, Stefano; di Toritto, Tommaso Caravita
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
2024-01-01 Panagiotakaki, Eleni; Tiziano, Francesco D; Mikati, Mohamad A; Vijfhuizen, Lisanne S; Nicole, Sophie; Lesca, Gaetan; Abiusi, Emanuela; Novelli, Agnese; Di Pietro, Lorena; Harder, Aster V E; Walley, Nicole M; De Grandis, Elisa; Poulat, Anne-Lise; Portes, Vincent Des; Lépine, Anne; Nassogne, Marie-Cecile; Arzimanoglou, Alexis; Vavassori, Rosaria; Koenderink, Jan; Thompson, Christopher H; George, Alfred L; Gurrieri, Fiorella; van den Maagdenberg, Arn M J M; Heinzen, Erin L
Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa
2024-01-01 Azzarà, Alessia; Cassano, Ilaria; Lintas, Carla; Gurrieri, Fiorella
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Decreased serum arylesterase activity in autism spectrum disorders | 1-gen-2010 | Gaita, Laura; Manzi, Barbara; Sacco, Roberto; Lintas, Carla; Altieri, Laura; Lombardi, Federica; Pawlowski, Tracy L; Redman, Margot; Craig, David W; Huentelman, Matthew J; Ober-Reynolds, Sharman; Brautigam, Sarah; Melmed, Raun; Smith, Christopher J; Marsillach, Judith; Camps, Jordi; Curatolo, Paolo; Persico, Antonio M | |
| Genome-wide expression studies in autism spectrum disorder, Rett syndrome, and Down syndrome | 1-gen-2012 | Lintas, Carla; Sacco, Roberto; Persico, Antonio M | |
| Lack of infection with XMRV or other MLV-related viruses in blood, post-mortem brains and paternal gametes of autistic individuals | 1-gen-2011 | Lintas, Carla; Guidi, Francesco; Manzi, Barbara; Mancini, Antonio; Curatolo, Paolo; Persico, Antonio M | |
| Autism genetics: Methodological issues and experimental design | 1-gen-2015 | Sacco, Roberto; Lintas, Carla; Persico, Antonio M | |
| Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features | 1-gen-2016 | Lintas, Carla; Picinelli, Chiara; Piras, Ignazio S; Sacco, Roberto; Gabriele, Stefano; Verdecchia, Magda; Persico, Antonio M | |
| Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects | 1-gen-2016 | Lintas, Carla; Sacco, Roberto; Persico, Antonio M | |
| Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders | 1-gen-2016 | Picinelli, Chiara; Lintas, Carla; Piras, Ignazio Stefano; Gabriele, Stefano; Sacco, Roberto; Brogna, Claudia; Persico, Antonio Maria | |
| Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes | 1-gen-2018 | Lintas, C; Persico, A M | |
| Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes | 1-gen-2017 | Lintas, Carla; Picinelli, Chiara; Piras, Ignazio Stefano; Sacco, Roberto; Brogna, Claudia; Persico, Antonio M | |
| An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient | 1-gen-2019 | Lintas, Carla; Sacco, Roberto; Tabolacci, Claudio; Brogna, Claudia; Canali, Marco; Picinelli, Chiara; Tomaiuolo, Pasquale; Castronovo, Paola; Baccarin, Marco; Persico, Antonio M | |
| Appropriateness of array-CGH in the ADHD clinics: A comparative study | 1-gen-2020 | Baccarin, Marco; Picinelli, Chiara; Tomaiuolo, Pasquale; Castronovo, Paola; Costa, Anna; Verdecchia, Magda; Cannizzaro, Chiara; Barbieri, Giusi; Sacco, Roberto; Persico, Antonio M; Lintas, Carla | |
| Genetic and epigenetic MTHFR gene variants in the mothers of attention-deficit/hyperactivity disorder affected children as possible risk factors for neurodevelopmental disorders | 1-gen-2020 | Piras, Ignazio Stefano; Costa, Anna; Tirindelli, Maria Cristina; Stoccoro, Andrea; Huentelman, Matthew J; Sacco, Roberto; Coppedè, Fabio; Lintas, Carla | |
| FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family | 1-gen-2020 | 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 | |
| Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders | 1-gen-2022 | Lintas, Carla; Sacco, Roberto; Azzarà, Alessia; Cassano, Ilaria; Laino, Luigi; Grammatico, Paola; Gurrieri, Fiorella | |
| CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories | 1-gen-2023 | Amenta, Simona; Marangi, Giuseppe; Orteschi, Daniela; Frangella, Silvia; Gurrieri, Fiorella; Paccagnella, Elisa; Scala, Marcello; Romano, Ferruccio; Capra, Valeria; Nigro, Vincenzo; Zollino, Marcella | |
| RADX Gene Variant May Predispose to Familial Asperger Syndrome | 1-gen-2023 | Azzarà, Alessia; Rumore, Roberto; Brugnoletti, Fulvia; Tabolacci, Elisabetta; Bottillo, Irene; Sangiorgi, Eugenio; Gurrieri, Fiorella | |
| Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers | 1-gen-2023 | Sangiorgi, Eugenio; Azzarà, Alessia; Rumore, Roberto; Cassano, Ilaria; Verrecchia, Elena; Giacò, Luciano; Tullio, Maria Alessandra; Gurrieri, Fiorella; Manna, Raffaele | |
| Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment | 1-gen-2023 | Paciaroni, Katia; Sangiorgi, Eugenio; Pulvirenti, Federica; Villiva, Nicoletta; Andrizzi, Cristina; Campagna, Selenia; Tordi, Attilio; Celesti, Francesca; Manna, Raffaele; Gurrieri, Fiorella; Licci, Stefano; di Toritto, Tommaso Caravita | |
| Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene | 1-gen-2024 | Panagiotakaki, Eleni; Tiziano, Francesco D; Mikati, Mohamad A; Vijfhuizen, Lisanne S; Nicole, Sophie; Lesca, Gaetan; Abiusi, Emanuela; Novelli, Agnese; Di Pietro, Lorena; Harder, Aster V E; Walley, Nicole M; De Grandis, Elisa; Poulat, Anne-Lise; Portes, Vincent Des; Lépine, Anne; Nassogne, Marie-Cecile; Arzimanoglou, Alexis; Vavassori, Rosaria; Koenderink, Jan; Thompson, Christopher H; George, Alfred L; Gurrieri, Fiorella; van den Maagdenberg, Arn M J M; Heinzen, Erin L | |
| Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa | 1-gen-2024 | Azzarà, Alessia; Cassano, Ilaria; Lintas, Carla; Gurrieri, Fiorella |
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