LINTAS, CARLA

LINTAS, CARLA  

Facoltà Dipartimentale di Medicina e Chirurgia  

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Risultati 1 - 20 di 64 (tempo di esecuzione: 0.033 secondi).
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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
Age-Dependent Decrease and Alternative Splicing of Methionine Synthase mRNA in Human Cerebral Cortex and an Accelerated Decrease in Autism 1-gen-2013 Muratore, Christina R.; Hodgson, Nathaniel W.; Trivedi, Malav S.; Abdolmaleky, Hamid M.; Persico, Antonio M.; Lintas, Carla; De La Monte, Suzanne; Deth, Richard C.
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
Beyond environmental risk: Genetic insights into lung cancer susceptibility through whole exome analysis 1-gen-2025 Lintas, C.; Petti, R.; Colella, G.; Cassano, I.; Azzarà, A.; Cortellini, A.; Longo, F.; Frasca, L.; Gurrieri, F.; Crucitti, P.
Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview 1-gen-2025 Tabolacci, Claudio; Caruso, Angela; Micai, Martina; Galati, Giulia; Lintas, Carla; Pisanu, Maria Elena; Scattoni, Maria Luisa
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
Contribution of autosomal rare and de novo variants to sex differences in autism 1-gen-2025 Koko, Mahmoud; Satterstrom, F. Kyle; Aleksic, Branko; Artomov, Mykyta; Barbosa, Mafalda; Benetti, Elisa; Betancur, Catalina; Biscaldi-Schafer, Monica; Børglum, Anders D.; Brand, Harrison; Brusco, Alfredo; Buxbaum, Joseph D.; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Carracedo, Angel; Chan, Marcus C. Y.; Chiocchetti, Andreas G.; Chung, Brian H. Y.; Collins, Brett; Collins, Ryan L.; Cook, Edwin H.; Coon, Hilary; Costa, Claudia I. S.; Cuccaro, Michael L.; Cutler, David J.; Daly, Mark J.; De Rubeis, Silvia; Devlin, Bernie; Doan, Ryan N.; Domenici, Enrico; Dong, Shan; Fallerini, Chiara; Fernández-Prieto, Montserrat; Ferrero, Giovanni Battista; Freitag, Christine M.; Fu, Jack M.; Gargus, J. Jay; Gerges, Sherif; Giorgio, Elisa; Girardi, Ana Cristina; Guter, Stephen; Hansen-Kiss, Emily; Herman, Gail E.; Hertz-Picciotto, Irva; Hougaard, David M.; Hultman, Christina M.; Jacob, Suma; Kaartinen, Miia; Klei, Lambertus; Kolevzon, Alexander; Kushima, Itaru; Lee, So Lun; Lehtimäki, Terho; Liang, Lindsay; Lintas, Carla; Ljungdahl, Alicia; Lo Rizzo, Caterina; Ludena, Yunin; Maciel, Patricia; Mahjani, Behrang; Maltman, Nell; Manara, Marianna; Manoach, Dara S.; Meiri, Gal; Menashe, Idan; Miller, Judith; Minshew, Nancy; Mosconi, Matthew; Nguyen, Rachel; Ozaki, Norio; Palotie, Aarno; Parellada, Mara; Passos-Bueno, Maria Rita; Pavinato, Lisa; Peng, Minshi; Pericak-Vance, Margaret; Persico, Antonio M.; Pessah, Isaac N.; Puura, Kaija; Reichenberg, Abraham; Renieri, Alessandra; Roeder, Kathryn; Sanders, Stephan J.; Sandin, Sven; Satterstrom, F. Kyle; Scherer, Stephen W.; Schlitt, Sabine; Schmidt, Rebecca J.; Schmitt, Lauren; Schneider-Momm, Katja; Siper, Paige M.; Sloofman, Laura; Smith, Moyra; Stevens, Christine R.; Suren, Pål; Sutcliffe, James S.; Sweeney, John A.; Talkowski, Michael E.; Tassone, Flora; Teufel, Karoline; Trabetti, Elisabetta; Trajkova, Slavica; Trelles, Maria Del Pilar; Wamsley, Brie; Wang, Jaqueline Y. T.; Weiss, Lauren A.; Yu, Mullin H. C.; Yuen, Ryan; Adhya, Deep; Allison, Carrie; Ayeung, Bonnie; Bamford, Rosie; Baron-Cohen, Simon; Bethlehem, Richard; Biron-Shental, Tal; Burton, Graham; Cowell, Wendy; Davies, Jonathan; Floris, Dori; Franklin, Alice; Gabis, Lidia; Geschwind, Daniel; Greenberg, David M.; Gu, Yuanjun; Havdahl, Alexandra; Heazell, Alexander; Holt, Rosemary; Hurles, Matthew; Khan, Yumnah; Lai, Meng-Chuan; Lancaster, Madeline; Lombardo, Michael; Martin, Hilary; Martinez, Jose Gonzalez; Mill, Jonathan; Koko, Mahmoud; Niakan, Kathy; Pavlinek, Adam; Polit, Lucia Dutan; Radecki, Marcin; Rowitch, David; Sichlinger, Laura; Srivastava, Deepak; Tsompanidis, Alexandros; Uzefovsky, Florina; Warrier, Varun; Weir, Elizabeth; Zhang, Xinhe; Warrier, Varun; Martin, Hilary
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
Deleterious coding variation associated with autism is shared across ancestries 1-gen-2026 Natividad Avila, Marina; Jung, Seulgi; Satterstrom, F. Kyle; Fu, Jack M.; Levy, Tess; Sloofman, Laura G.; Klei, Lambertus; Pichardo, Thariana; Marquez, Dalia; Stevens, Christine R.; Cusick, Caroline M.; Ames, Jennifer L.; Campos, Gabriele S.; Cerros, Hilda; Chaskel, Roberto; Costa, Claudia I. S.; Cuccaro, Michael L.; Lopez, Andrea Del Pilar; Fernandez, Magdalena; Ferro, Eugenio; Galeano, Liliana; Girardi, Ana Cristina D. E. S.; Griswold, Anthony J.; Hernandez, Luis C.; Lourenço, Naila; Ludena, Yunin; Núñez-Ríos, Diana; Oyama, Rosa; Peña, Katherine P.; Pessah, Isaac; Schmidt, Rebecca; Sweeney, Holly M.; Tolentino, Lizbeth; Wang, Jaqueline Y. T.; Albores-Gallo, Lilia; Croen, Lisa A.; Cruz-Fuentes, Carlos S.; Hertz-Picciotto, Irva; Kolevzon, Alexander; Lattig, Maria Claudia; Mayo, Liliana; Passos-Bueno, Maria Rita; Pericak-Vance, Margaret A.; Siper, Paige M.; Tassone, Flora; Trelles, M. Pilar; Null, Null; De Rubeis, Silvia; Foss-Feig, Jennifer; Hara, Erina; Halpern, Danielle; Li, Yi; Lopez, Andrea Del Pilar; Sancimino, Catherine; Soufer, Renee; Zweifach, Jessica; Null, Null; Aleksic, Branko; Artomov, Mykyta; Barbosa, Mafalda; Benetti, Elisa; Biscaldi-Schafer, Monica; Børglum, Anders D.; Brand, Harrison; Brusco, Alfredo; Cardaropoli, Simona; Carli, Diana; Carracedo, Angel; Chan, Marcus C. Y.; Chiocchetti, Andreas G.; Chung, Brian H. Y.; Collins, Brett; Collins, Ryan L.; Coon, Hilary; Cutler, David J.; Doan, Ryan N.; Domenici, Enrico; Dong, Shan; Fallerini, Chiara; Fernández-Prieto, Montserrat; Ferrero, Giovanni Battista; Freitag, Christine M.; Gargus, J. Jay; Gerges, Sherif; Giorgio, Elisa; Guter, Stephen; Hansen-Kiss, Emily; Herman, Gail E.; Hougaard, David M.; Hultman, Christina M.; Jacob, Suma; Kaartinen, Miia; Kushima, Itaru; Lee, So Lun; Lehtimäki, Terho; Liang, Lindsay; Lintas, Carla; Ljungdahl, Alicia; Lo Rizzo, Caterina; Maciel, Patricia; Maltman, Nell; Manara, Marianna; Manoach, Dara S.; Meiri, Gal; Menashe, Idan; Miller, Judith; Minshew, Nancy; Mosconi, Matthew; Nguyen, Rachel; Ozaki, Norio; Palotie, Aarno; Parellada, Mara; Pavinato, Lisa; Peng, Minshi; Pericak-Vance, Margaret; Persico, Antonio M.; Pessah, Isaac N.; Puura, Kaija; Reichenberg, Abraham; Renieri, Alessandra; Sanders, Stephan J.; Sandin, Sven; Scherer, Stephen W.; Schlitt, Sabine; Schmidt, Rebecca J.; Schmitt, Lauren; Schneider-Momm, Katja; Sloofman, Laura; Smith, Moyra; Suren, Pål; Sutcliffe, James S.; Sweeney, John A.; Teufel, Karoline; Trabetti, Elisabetta; Trajkova, Slavica; Wamsley, Brie; Weiss, Lauren A.; Yu, Mullin H. C.; Yuen, Ryan; Talkowski, Michael E.; Daly, Mark J.; Mahjani, Behrang; De Rubeis, Silvia; Cook, Edwin H.; Roeder, Kathryn; Betancur, Catalina; Devlin, Bernie; Buxbaum, Joseph D.
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