LINTAS, CARLA

LINTAS, CARLA  

Facoltà Dipartimentale di Medicina e Chirurgia  

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Risultati 1 - 20 di 22 (tempo di esecuzione: 0.023 secondi).
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-2023 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
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
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
Editorial: Epigenetics of Neurodevelopmental, Neuromuscular and Neurodegenerative Disorders 1-gen-2022 Coppedè, Fabio; Cereda, Cristina; Lintas, Carla; Stoccoro, Andrea
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
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study 1-gen-2022 Azzarà, Alessia; Risi Ambrogioni, Laura; Cassano, Ilaria; Lintas, Carla; Longo, Umile Giuseppe; Denaro, Vincenzo; Gurrieri, Fiorella
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families 1-gen-2022 Azzarà, Alessia; Cassano, Ilaria; Paccagnella, Elisa; Tirindelli, Maria Cristina; Nobile, Carolina; Schittone, Valentina; Lintas, Carla; Sacco, Roberto; Gurrieri, Fiorella
Genotype–phenotype correlations in relation to newly emerging monogenic forms of autism spectrum disorder and associated neurodevelopmental disorders: The importance of phenotype reevaluation after pangenomic results 1-gen-2021 Lintas, C.; Sacco, R.; Azzara, A.; Cassano, I.; Gurrieri, F.
Huntingtin gene CAG repeat size affects autism risk: Family-based and case–control association study 1-gen-2020 Piras, I. S.; Picinelli, C.; Iennaco, R.; Baccarin, M.; Castronovo, P.; Tomaiuolo, P.; Cucinotta, F.; Ricciardello, A.; Turriziani, L.; Nanetti, L.; Mariotti, C.; Gellera, C.; Lintas, C.; Sacco, R.; Zuccato, C.; Cattaneo, E.; Persico, A. M.
Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders 1-gen-2023 Lintas, Carla; Cassano, Ilaria; Azzarà, Alessia; Stigliano, Maria Grazia; Gregorj, Chiara; Sacco, Roberto; Stoccoro, Andrea; Coppedè, Fabio; Gurrieri, Fiorella
Melanoma cell resistance to vemurafenib modifies inter-cellular communication signals 1-gen-2021 Tabolacci, C.; Cordella, M.; Mariotti, S.; Rossi, S.; Senatore, C.; Lintas, C.; Levati, L.; D'Arcangelo, D.; Facchiano, A.; D'Atri, S.; Nisini, R.; Facchiano, F.
Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants? 1-gen-2023 Azzarà, Alessia; Cassano, Ilaria; Lintas, Carla; Pilato, Fabio; Capone, Fioravante; Di Lazzaro, Vincenzo; Gurrieri, Fiorella
Molecular biomarkers to track clinical improvement following an integrative treatment model in autistic toddlers 1-gen-2021 Piras, I. S.; Manti, F.; Costa, A.; Carone, V.; Scalese, B.; Talboom, J. S.; Veronesi, C.; Tabolacci, C.; Persico, A. M.; Huentelman, M. J.; Sacco, R.; Lintas, C.
Phytochemicals as Immunomodulatory Agents in Melanoma 1-gen-2023 Tabolacci, Claudio; De Vita, Daniela; Facchiano, Antonio; Bozzuto, Giuseppina; Beninati, Simone; Failla, Cristina Maria; Di Martile, Marta; Lintas, Carla; Mischiati, Carlo; Stringaro, Annarita; Del Bufalo, Donatella; Facchiano, Francesco
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 1-gen-2022 Fu, Jack M; Satterstrom, F Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P; Stevens, Christine R; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B; Gauthier, Laura; Lee, Samuel K; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H Y; Cook, Edwin H; Cuccaro, Michael L; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J Jay; Herman, Gail E; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S; Passos-Bueno, Maria Rita; Persico, Antonio M; Renieri, Alessandra; Sutcliffe, James S; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C Y; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina; Hansen-Kiss, Emily; Lee, So Lun; Lintas, Carla; Ludena, Yunin; Nguyen, Rachel; Pavinato, Lisa; Pericak-Vance, Margaret; Pessah, Isaac N; Schmidt, Rebecca J; Smith, Moyra; Costa, Claudia I S; Trajkova, Slavica; Wang, Jaqueline Y T; Yu, Mullin H C; Cutler, David J; De Rubeis, Silvia; Buxbaum, Joseph D; Daly, Mark J; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J; Talkowski, Michael E
Rare Thrombophilic Variants in two Patients with Cerebral Venous Sinus Thrombosis after COVID-19 Vaccine Administration 1-gen-2022 Azzarà, Alessia; Cassano, Ilaria; Lintas, Carla; Cerchiara, Elisabetta; Avvisati, Giuseppe; Vacca, Michele; Gurrieri, Fiorella
Reevaluation of serum arylesterase activity in neurodevelopmental disorders 1-gen-2021 Piras, I. S.; Gabriele, S.; Altieri, L.; Lombardi, F.; Sacco, R.; Lintas, C.; Manzi, B.; Curatolo, P.; Nobile, M.; Rigoletto, C.; Molteni, M.; Persico, A. M.