LINTAS, CARLA
LINTAS, CARLA
Facoltà Dipartimentale di Medicina e Chirurgia
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing
2024-01-01 Azzarà, Alessia; Cassano, Ilaria; Lintas, Carla; Bernardini, Laura; Pilato, Fabio; Capone, Fioravante; Di Lazzaro, Vincenzo; Gurrieri, Fiorella
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
2024-01-01 Bottillo, Irene; Laino, Luigi; Azzarà, Alessia; Lintas, Carla; Cassano, Ilaria; Di Lazzaro, Vincenzo; Ursini, Francesca; Motolese, Francesco; Bargiacchi, Simone; Formicola, Daniela; Grammatico, Paola; Gurrieri, Fiorella
An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (AIRE)
2008-01-01 Lintas, Carla; Cappa, Marco; Comparcola, Donatella; Nobili, Valerio; Fierabracci, Alessandra
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
Association of autism with polyomavirus infection in postmortem brains
2010-01-01 Lintas, Carla; Altieri, Laura; Lombardi, Federica; Sacco, Roberto; Persico, Antonio M
Autism genetics: Methodological issues and experimental design
2015-01-01 Sacco, Roberto; Lintas, Carla; Persico, Antonio M
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist
2009-01-01 Lintas, C; Persico, A M
AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability
2022-01-01 Azzarà, Alessia; Cassano, Ilaria; Paccagnella, Elisa; Lintas, Carla; Laino, Luigi; Sacco, Roberto; Grammatico, Paola; Gurrieri, Fiorella
BRAF Mutations in Melanoma: Biological Aspects, Therapeutic Implications, and Circulating Biomarkers
2023-01-01 Castellani, Giorgia; Buccarelli, Mariachiara; Arasi, Maria Beatrice; Rossi, Stefania; Pisanu, Maria Elena; Bellenghi, Maria; Lintas, Carla; Tabolacci, Claudio
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
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
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability
2023-01-01 Lintas, Carla; Facchiano, Angelo; Azzarà, Alessia; Cassano, Ilaria; Tabolacci, Claudio; Galasso, Cinzia; Gurrieri, Fiorella
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder
2023-01-01 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
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
Do mutations of RAG genes have a role in human autoimmunity? The Notarangelo's hypothesis revisited
2006-01-01 Fierabracci, Alessandra; Lintas, Carla; Altieri, Laura; Saura, Francesca; Crino', Antonio; Ugazio, Alberto G; Bottazzo, Gian Franco
Editorial: Epigenetics of Neurodevelopmental, Neuromuscular and Neurodegenerative Disorders
2022-01-01 Coppedè, Fabio; Cereda, Cristina; Lintas, Carla; Stoccoro, Andrea
Evidence that ITGB3 promoter variants increase serotonin blood levels by regulating platelet serotonin transporter trafficking
2019-01-01 Gabriele, Stefano; Canali, Marco; Lintas, Carla; Sacco, Roberto; Tirindelli, Maria Cristina; Ricciardello, Arianna; Persico, Antonio M
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
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations
2022-01-01 Lintas, Carla; Bottillo, Irene; Sacco, Roberto; Azzarà, Alessia; Cassano, Ilaria; Ciccone, Maria Pia; Grammatico, Paola; Gurrieri, Fiorella
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing | 1-gen-2024 | Azzarà, Alessia; Cassano, Ilaria; Lintas, Carla; Bernardini, Laura; Pilato, Fabio; Capone, Fioravante; Di Lazzaro, Vincenzo; Gurrieri, Fiorella | |
| A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? | 1-gen-2024 | Bottillo, Irene; Laino, Luigi; Azzarà, Alessia; Lintas, Carla; Cassano, Ilaria; Di Lazzaro, Vincenzo; Ursini, Francesca; Motolese, Francesco; Bargiacchi, Simone; Formicola, Daniela; Grammatico, Paola; Gurrieri, Fiorella | |
| An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (AIRE) | 1-gen-2008 | Lintas, Carla; Cappa, Marco; Comparcola, Donatella; Nobili, Valerio; Fierabracci, Alessandra | |
| 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 | |
| Association of autism with polyomavirus infection in postmortem brains | 1-gen-2010 | Lintas, Carla; Altieri, Laura; Lombardi, Federica; Sacco, Roberto; Persico, Antonio M | |
| Autism genetics: Methodological issues and experimental design | 1-gen-2015 | Sacco, Roberto; Lintas, Carla; Persico, Antonio M | |
| Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist | 1-gen-2009 | Lintas, C; Persico, A M | |
| AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability | 1-gen-2022 | Azzarà, Alessia; Cassano, Ilaria; Paccagnella, Elisa; Lintas, Carla; Laino, Luigi; Sacco, Roberto; Grammatico, Paola; Gurrieri, Fiorella | |
| BRAF Mutations in Melanoma: Biological Aspects, Therapeutic Implications, and Circulating Biomarkers | 1-gen-2023 | Castellani, Giorgia; Buccarelli, Mariachiara; Arasi, Maria Beatrice; Rossi, Stefania; Pisanu, Maria Elena; Bellenghi, Maria; Lintas, Carla; Tabolacci, Claudio | |
| 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 | |
| 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 | |
| Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability | 1-gen-2023 | Lintas, Carla; Facchiano, Angelo; Azzarà, Alessia; Cassano, Ilaria; Tabolacci, Claudio; Galasso, Cinzia; Gurrieri, Fiorella | |
| Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder | 1-gen-2023 | 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 | |
| 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 | |
| Do mutations of RAG genes have a role in human autoimmunity? The Notarangelo's hypothesis revisited | 1-gen-2006 | Fierabracci, Alessandra; Lintas, Carla; Altieri, Laura; Saura, Francesca; Crino', Antonio; Ugazio, Alberto G; Bottazzo, Gian Franco | |
| Editorial: Epigenetics of Neurodevelopmental, Neuromuscular and Neurodegenerative Disorders | 1-gen-2022 | Coppedè, Fabio; Cereda, Cristina; Lintas, Carla; Stoccoro, Andrea | |
| Evidence that ITGB3 promoter variants increase serotonin blood levels by regulating platelet serotonin transporter trafficking | 1-gen-2019 | Gabriele, Stefano; Canali, Marco; Lintas, Carla; Sacco, Roberto; Tirindelli, Maria Cristina; Ricciardello, Arianna; Persico, Antonio M | |
| 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 | |
| Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations | 1-gen-2022 | Lintas, Carla; Bottillo, Irene; Sacco, Roberto; Azzarà, Alessia; Cassano, Ilaria; Ciccone, Maria Pia; Grammatico, Paola; Gurrieri, Fiorella |