Heavy metal inhibition of EROD activity in liver microsomes from the bass Dicentrarchus labrax exposed to organic xenobiotics: Role of GSH in the reduction of heavy metal effects

A. Viarengo, Elisa Bettella, Rita Fabbri, +2

Marine Environmental Research

BiochemistryMedicineLiver PhysiologyHeavy Metal EffectsTrace Metal +10

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

Carolyn Ellaway, Gladys Ho, Elisa Bettella, +8

European Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyGenetic DisorderGeneticsPathology +4

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Maria Cristina Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, +21

Human Mutation

Genome-wide Association StudyIntellectual ImpairmentFunctional GenomicsGene PanelPsychiatry +13

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Hui Guo, Elisa Bettella, Paul C. Marcogliese, +35

Nature Communications

A novel <i>CDKL5</i> mutation in a 47,XXY boy with the early‐onset seizure variant of Rett syndrome

Stefano Sartori, Gabriella Di Rosa, Roberta Polli, +4

American Journal of Medical Genetics Part A

Pathogenic Role of the X-Linked Cyclin-Dependent Kinase-Like 5 and Aristaless-Related Homeobox Genes in Epileptic Encephalopathy of Unknown Etiology With Onset in the First Year of Life

Stefano Sartori, Roberta Polli, Elisa Bettella, +13

Journal of Child Neurology

GeneticsGenetic EpidemiologyDisease Gene IdentificationSynaptic SignalingSocial Sciences +16

Familial Ohtahara syndrome due to a novel <i>ARX</i> gene mutation

Lucio Giordano, Stefano Sartori, Silvia Russo, +9

American Journal of Medical Genetics Part A

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

Emanuela Leonardi, Elisa Bettella, Maria Federica Pelizza, +6

Frontiers in Neurology

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

Emanuela Leonardi, Mariagrazia Bellini, Maria Cristina Aspromonte, +12

Genes

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members

Federica Cesca, Elisa Bettella, Roberta Polli, +4

International Journal of Pediatric Otorhinolaryngology

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsEya4 Gene +10