Defective oxytocin function: a clue to understanding the cause of autism?

por Gurrieri, Fiorella, Neri, Giovanni
Publicado 2009

Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype R...

por Lintas, Carla, Sacco, Roberto, Azzarà, Alessia, Cassano, Ilaria, Gurrieri, Fiorella
Publicado 2021

PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism

por Satterfield, Brent C, Garcia, Rebecca A, Gurrieri, Fiorella, Schwartz, Charles E
Publicado 2010

Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability

por Lintas, Carla, Facchiano, Angelo, Azzarà, Alessia, Cassano, Ilaria, Tabolacci, Claudio, Galasso, Cinzia, Gurrieri, Fiorella
Publicado 2023

Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders

por Lintas, Carla, Sacco, Roberto, Azzarà, Alessia, Cassano, Ilaria, Laino, Luigi, Grammatico, Paola, Gurrieri, Fiorella
Publicado 2022

RADX Gene Variant May Predispose to Familial Asperger Syndrome

por Azzarà, Alessia, Rumore, Roberto, Brugnoletti, Fulvia, Tabolacci, Elisabetta, Bottillo, Irene, Sangiorgi, Eugenio, Gurrieri, Fiorella
Publicado 2023

Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?

por Azzarà, Alessia, Cassano, Ilaria, Lintas, Carla, Pilato, Fabio, Capone, Fioravante, Di Lazzaro, Vincenzo, Gurrieri, Fiorella
Publicado 2023

Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study

por Azzarà, Alessia, Risi Ambrogioni, Laura, Cassano, Ilaria, Lintas, Carla, Longo, Umile Giuseppe, Denaro, Vincenzo, Gurrieri, Fiorella
Publicado 2022

Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19

por Azzarà, Alessia, Cassano, Ilaria, Tirindelli, Maria Cristina, Nobile, Carolina, Schittone, Valentina, Paccagnella, Elisa, Lintas, Carla, Gurrieri, Fiorella
Publicado 2022

Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations

por Lintas, Carla, Bottillo, Irene, Sacco, Roberto, Azzarà, Alessia, Cassano, Ilaria, Ciccone, Maria Pia, Grammatico, Paola, Gurrieri, Fiorella
Publicado 2022

Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders

por Lintas, Carla, Cassano, Ilaria, Azzarà, Alessia, Stigliano, Maria Grazia, Gregorj, Chiara, Sacco, Roberto, Stoccoro, Andrea, Coppedè, Fabio, Gurrieri, Fiorella
Publicado 2023

Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers

por Sangiorgi, Eugenio, Azzarà, Alessia, Rumore, Roberto, Cassano, Ilaria, Verrecchia, Elena, Giacò, Luciano, Tullio, Maria Alessandra, Gurrieri, Fiorella, Manna, Raffaele
Publicado 2023

Genetic analysis of intellectual disability and autism

por Chiurazzi, Pietro, Kiani, Aysha Karim, Miertus, Jan, Barati, Shila, Manara, Elena, Paolacci, Stefano, Stuppia, Liborio, Gurrieri, Fiorella, Bertelli, Matteo
Publicado 2020

Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families

por Azzarà, Alessia, Cassano, Ilaria, Paccagnella, Elisa, Tirindelli, Maria Cristina, Nobile, Carolina, Schittone, Valentina, Lintas, Carla, Sacco, Roberto, Gurrieri, Fiorella
Publicado 2022

Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers

por MARANGI, Giuseppe, GARCOVICH, Simone, DI SANTE, Gabriele, ORTESCHI, Daniela, FRANGELLA, Silvia, SCALDAFERRI, Franco, GENUARDI, Maurizio, PERIS, Ketty, GURRIERI, Fiorella, ZOLLINO, Marcella
Publicado 2020

Coding exons function as tissue-specific enhancers of nearby genes

por Birnbaum, Ramon Y., Clowney, E. Josephine, Agamy, Orly, Kim, Mee J., Zhao, Jingjing, Yamanaka, Takayuki, Pappalardo, Zachary, Clarke, Shoa L., Wenger, Aaron M., Nguyen, Loan, Gurrieri, Fiorella, Everman, David B., Schwartz, Charles E., Birk, Ohad S., Bejerano, Gill, Lomvardas, Stavros, Ahituv, Nadav
Publicado 2012

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients

por Di Donato, Ilaria, Gallo, Antonio, Ricca, Ivana, Fini, Nicola, Silvestri, Gabriella, Gurrieri, Fiorella, Cirillo, Mario, Cerase, Alfonso, Natale, Gemma, Matrone, Federica, Riso, Vittorio, Melone, Mariarosa Anna Beatrice, Tessa, Alessandra, De Michele, Giovanna, Federico, Antonio, Filla, Alessandro, Dotti, Maria Teresa, Santorelli, Filippo Maria
Publicado 2021

DNA Methylation in the Diagnosis of Monogenic Diseases

por Cerrato, Flavia, Sparago, Angela, Ariani, Francesca, Brugnoletti, Fulvia, Calzari, Luciano, Coppedè, Fabio, De Luca, Alessandro, Gervasini, Cristina, Giardina, Emiliano, Gurrieri, Fiorella, Lo Nigro, Cristiana, Merla, Giuseppe, Miozzo, Monica, Russo, Silvia, Sangiorgi, Eugenio, Sirchia, Silvia M, Squeo, Gabriella Maria, Tabano, Silvia, Tabolacci, Elisabetta, Torrente, Isabella, Genuardi, Maurizio, Neri, Giovanni, Riccio, Andrea
Publicado 2020

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

por Heinzen, Erin L., Swoboda, Kathryn J., Hitomi, Yuki, Gurrieri, Fiorella, Nicole, Sophie, de Vries, Boukje, Tiziano, F. Danilo, Fontaine, Bertrand, Walley, Nicole M., Heavin, Sinéad, Panagiotakaki, Eleni, Fiori, Stefania, Abiusi, Emanuela, Di Pietro, Lorena, Sweney, Matthew T., Newcomb, Tara M., Viollet, Louis, Huff, Chad, Jorde, Lynn B., Reyna, Sandra P., Murphy, Kelley J., Shianna, Kevin V., Gumbs, Curtis E., Little, Latasha, Silver, Kenneth, Ptác̆ek, Louis J., Haan, Joost, Ferrari, Michel D., Bye, Ann M., Herkes, Geoffrey K., Whitelaw, Charlotte M., Webb, David, Lynch, Bryan J., Uldall, Peter, King, Mary D., Scheffer, Ingrid E., Neri, Giovanni, Arzimanoglou, Alexis, van den Maagdenberg, Arn M.J.M., Sisodiya, Sanjay M., Mikati, Mohamad A., Goldstein, David B., Nicole, Sophie, Gurrieri, Fiorella, Neri, Giovanni, de Vries, Boukje, Koelewijn, Stephany, Kamphorst, Jessica, Geilenkirchen, Marije, Pelzer, Nadine, Laan, Laura, Haan, Joost, Ferrari, Michel, van den Maagdenberg, Arn, Zucca, Claudio, Bassi, Maria Teresa, Franchini, Filippo, Vavassori, Rosaria, Giannotta, Melania, Gobbi, Giuseppe, Granata, Tiziana, Nardocci, Nardo, De Grandis, Elisa, Veneselli, Edvige, Stagnaro, Michela, Gurrieri, Fiorella, Neri, Giovanni, Vigevano, Federico, Panagiotakaki, Eleni, Oechsler, Claudia, Arzimanoglou, Alexis, Nicole, Sophie, Giannotta, Melania, Gobbi, Giuseppe, Ninan, Miriam, Neville, Brian, Ebinger, Friedrich, Fons, Carmen, Campistol, Jaume, Kemlink, David, Nevsimalova, Sona, Laan, Laura, Peeters-Scholte, Cacha, van den Maagdenberg, Arn, Casaer, Paul, Casari, Giorgio, Sange, Guenter, Spiel, Georg, Boneschi, Filippo Martinelli, Zucca, Claudio, Bassi, Maria Teresa, Schyns, Tsveta, Crawley, Francis, Poncelin, Dominique, Vavassori, Rosaria
Publicado 2012

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients

por Panagiotakaki, Eleni, De Grandis, Elisa, Stagnaro, Michela, Heinzen, Erin L., Fons, Carmen, Sisodiya, Sanjay, de Vries, Boukje, Goubau, Christophe, Weckhuysen, Sarah, Kemlink, David, Scheffer, Ingrid, Lesca, Gaëtan, Rabilloud, Muriel, Klich, Amna, Ramirez-Camacho, Alia, Ulate-Campos, Adriana, Campistol, Jaume, Giannotta, Melania, Moutard, Marie-Laure, Doummar, Diane, Hubsch-Bonneaud, Cecile, Jaffer, Fatima, Cross, Helen, Gurrieri, Fiorella, Tiziano, Danilo, Nevsimalova, Sona, Nicole, Sophie, Neville, Brian, van den Maagdenberg, Arn M. J. M., Mikati, Mohamad, Goldstein, David B., Vavassori, Rosaria, Arzimanoglou, Alexis
Publicado 2015