Antonio Pizzuti | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis	EUROPEAN JOURNAL OF HUMAN GENETICS	2024
Small RNAs and tooth development: the role of microRNAs in tooth agenesis and impaction	JOURNAL OF DENTAL SCIENCES	2024
“Neurodevelopmental outcome of a child with UPD(16)mat: A case report”	GLOBAL PEDIATRICS	2024
First-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related spinal muscular atrophy withith congenital bone fractures	EUROPEAN JOURNAL OF HUMAN GENETICS	2024
Re-analysis of Next-generation Sequencing Data in Patients with Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort	ANNALS OF LABORATORY MEDICINE	2024
Unveiling the spectrum of minor genes in cardiomyopathies: a narrative review	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules	GENETICS IN MEDICINE	2024
EP18.19: Prenatal diagnosis of Cantú syndrome during the second trimester due to a novel ABCC9 pathogenic variant: a case report	ULTRASOUND IN OBSTETRICS & GYNECOLOGY	2024
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2023
Echocardiographic features and outcome of restrictive foramen ovale in fetuses with and without cardiac malformations: Literature review	JOURNAL OF CLINICAL ULTRASOUND	2023
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy	CURRENT ISSUES IN MOLECULAR BIOLOGY	2023
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?	FRONTIERS IN CARDIOVASCULAR MEDICINE	2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome	EUROPEAN JOURNAL OF HUMAN GENETICS	2023
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2	JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA	2023
Additional lesions identified by genomic microarrays are associated with an inferior outcome in low-risk chronic lymphocytic leukaemia patients	BRITISH JOURNAL OF HAEMATOLOGY	2023
Prenatal CFAP53-related laterality defect: case report and review of the literature	THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE	2023
The role of genetic testing in suspected fulminant myocarditis: A case report	MOLECULAR GENETICS AND METABOLISM REPORTS	2023
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility	BIOMEDICINES	2023
Hyperechogenic fetal bowel: Current evidence-based prenatal diagnosis and management	JOURNAL OF CLINICAL ULTRASOUND	2023
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region	GENES	2023

Laboratori di ricerca

Genetica Medica I