Antonio Pizzuti | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
EP24.35: Ultrasound prenatal diagnosis of congenital cardiac septal defects: genetic association and perinatal outcome	ULTRASOUND IN OBSTETRICS & GYNECOLOGY	2023
EP10.11: Pitfalls in growth assessment and prenatal surveillance in fetuses with abdominal wall defects	ULTRASOUND IN OBSTETRICS & GYNECOLOGY	2023
EP01.16: Congenital heart diseases and genetics: a prospective cohort study	ULTRASOUND IN OBSTETRICS & GYNECOLOGY	2023
Prenatal CFAP53-related laterality defect: case report and review of the literature	THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE	2023
Array-comparative genomic hybridization analysis in a cohort of 130 children with Autism Spectrum Disorders: A single Center Italian Study	LA CLINICA TERAPEUTICA	2023
Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants	FRONTIERS IN NEUROLOGY	2022
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis	DIAGNOSTICS	2022
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non-migraine-like headache: Expanding the genotypic spectrum of CADASIL?	CLINICAL GENETICS	2022
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants	HUMAN MUTATION	2022
Potassium Channel {KCNH}1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis	MOLECULAR NEUROBIOLOGY	2022
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer	DIAGNOSTICS	2022
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome	DIAGNOSTICS	2022
Neuroimaging and cerebrovascular changes in fetuses with complex congenital heart disease	JOURNAL OF CLINICAL MEDICINE	2022
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series	DIAGNOSTICS	2022
Role of ductus venosus agenesis in right ventricle development	THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE	2022
Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene	EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY	2022
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis	DIAGNOSTICS	2022
OC01.09: Prenatal diagnosis of restrictive fetal foramen ovale: a systematic review	ULTRASOUND IN OBSTETRICS & GYNECOLOGY	2022
Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome	SCIENTIFIC REPORTS	2021
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations	BONE	2021