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

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

Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

por Bertini, Veronica, Azzarà, Alessia, Legitimo, Annalisa, Milone, Roberta, Battini, Roberta, Consolini, Rita, Valetto, Angelo
Publicado 2017

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

A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotyp...

por Bertini, Veronica, Valetto, Angelo, Azzarà, Alessia, Legitimo, Annalisa, Saggese, Giuseppe, Consolini, Rita, Orsini, Alessandro, Bonuccelli, Alice
Publicado 2017

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 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