Editorial: A Genomic and Epigenomic Approach for Studying Neuropsychiatric Disorders Associated to Early-life Stress: Part I

por Pappalardo, Xena Giada, Cavallaro, Sebastiano
Publicado 2018

A Genomic and Epigenomic Approach for Studying Neuropsychiatric Disorders Associated to Early-life Stress: Part II

por Pappalardo, Xena Giada, Cavallaro, Sebastiano
Publicado 2018

Losing DNA methylation at repetitive elements and breaking bad

por Pappalardo, Xena Giada, Barra, Viviana
Publicado 2021

Child Abuse Syndrome (CAS): A Newly Recognized Distinct Entity

por Parano, Enrico, Pappalardo, Xena Giada, Pavone, Piero, Ruggieri, Martino, Cavallaro, Sebastiano
Publicado 2016

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review

por Pavone, Piero, Pappalardo, Xena Giada, Ruggieri, Martino, Falsaperla, Raffaele, Parano, Enrico
Publicado 2022

Is the Secret of VDAC Isoforms in Their Gene Regulation? Characterization of Human VDAC Genes Expression Profile, Promoter Activity, and Transcriptional Regulators

por Zinghirino, Federica, Pappalardo, Xena Giada, Messina, Angela, Guarino, Francesca, De Pinto, Vito
Publicado 2020

Novel malformations: Chiari type 1 and hydrocephalus in Zhu‐Tokita‐Takenouchi‐Kim syndrome and novel SON variants

por Pavone, Piero, Saia, Federica, Pappalardo, Xena, Barbagallo, Massimo, Prato, Adriana, Rizzo, Renata
Publicado 2022

A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report

por Pavone, Piero, Falsaperla, Raffaele, Ruggieri, Martino, Marino, Simona Domenica, Parano, Enrico, Pappalardo, Xena Giada
Publicado 2023

VDAC Genes Expression and Regulation in Mammals

por Zinghirino, Federica, Pappalardo, Xena Giada, Messina, Angela, Nicosia, Giuseppe, De Pinto, Vito, Guarino, Francesca
Publicado 2021

Early Life Stress (ELS) Effects on Fetal and Adult Bone Development

por Pappalardo, Xena Giada, Testa, Gianluca, Pellitteri, Rosalia, Dell’Albani, Paola, Rodolico, Margherita, Pavone, Vito, Parano, Enrico
Publicado 2023

Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation

por Pavone, Piero, Pappalardo, Xena Giada, Parano, Claudia, Parano, Enrico, Corsello, Antonio, Ruggieri, Martino, Cacciaguerra, Giovanni, Falsaperla, Raffaele
Publicado 2023

Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions

por Pavone, Piero, Pappalardo, Xena Giada, Parano, Enrico, Falsaperla, Raffaele, Marino, Simona Domenica, Fink, John Kane, Ruggieri, Martino
Publicado 2022

Diagnostic Tools in the Detection of Physical Child Abuse: A Systematic Review

por Pavone, Vito, Vescio, Andrea, Lucenti, Ludovico, Amico, Mirko, Caldaci, Alessia, Pappalardo, Xena Giada, Parano, Enrico, Testa, Gianluca
Publicado 2022

Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review

por Pavone, Piero, Striano, Pasquale, Cacciaguerra, Giovanni, Marino, Simona Domenica, Parano, Enrico, Pappalardo, Xena Giada, Falsaperla, Raffaele, Ruggieri, Martino
Publicado 2023

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

por Falsaperla, Raffaele, Pappalardo, Xena Giada, Romano, Catia, Marino, Simona Domenica, Corsello, Giovanni, Ruggieri, Martino, Parano, Enrico, Pavone, Piero
Publicado 2020

Human VDAC pseudogenes: an emerging role for VDAC1P8 pseudogene in acute myeloid leukemia

por Pappalardo, Xena Giada, Risiglione, Pierpaolo, Zinghirino, Federica, Ostuni, Angela, Luciano, Daniela, Bisaccia, Faustino, De Pinto, Vito, Guarino, Francesca, Messina, Angela
Publicado 2023

A novel GABRB3 variant in Dravet syndrome: Case report and literature review

por Pavone, Piero, Pappalardo, Xena Giada, Marino, Simona D., Sciuto, Laura, Corsello, Giovanni, Ruggieri, Martino, Parano, Enrico, Piccione, Maria, Falsaperla, Raffaele
Publicado 2020

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome

por Pavone, Piero, Pappalardo, Xena Giada, Mustafa, Naira, Falsaperla, Raffaele, Marino, Simona Domenica, Corsello, Giovanni, Bianca, Sebastiano, Parano, Enrico, Ruggieri, Martino
Publicado 2022

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

por Pavone, Piero, Corsello, Giovanni., Cho, Sung Yoon, Pappalardo, Xena Giada, Ruggieri, Martino, Marino, Simona Domenica, Jin, Dong Kyu, Marino, Silvia, Falsaperla, Raffaele
Publicado 2019

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

por Pavone, Piero, Ruggieri, Martino, Marino, Simona D., Corsello, Giovanni, Pappalardo, Xena, Polizzi, Agata, Parano, Enrico, Romano, Catia, Marino, Silvia, Praticò, Andrea Domenico, Falsaperla, Raffaele
Publicado 2020