Dottorato in BIOLOGIA UMANA E GENETICA MEDICA

ciclo: XXXVII
email:

supervisore: Prof. Antonio Pizzuti

11573/1715761 - 2024 - First-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related spinal muscular atrophy withith congenital bone fractures

11573/1706342 - 2024 - 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

11573/1725554 - 2024 - Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules

11573/1683316 - 2023 - Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2

11573/1687956 - 2023 - Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

11573/1697502 - 2023 - Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region

11573/1669248 - 2023 - Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells

11573/1682972 - 2023 - Prenatal CFAP53-related laterality defect: case report and review of the literature

11573/1697501 - 2023 - Correspondence to “Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease”

11573/1697504 - 2023 - Application of 3-Dimensional Fetal Echocardiography in the Detection of Hidden Extended Ventricular Septal Defect

11573/1682069 - 2023 - Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

11573/1684176 - 2023 - Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease

11573/1697503 - 2023 - Non-ceruloplasmin copper identifies a subtype of Alzheimer's disease (CuAD): characterization of the cognitive profile and case of a CuAD patient carrying an RGS7 stop-loss variant

11573/1649089 - 2022 - Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer

11573/1669249 - 2022 - Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes{\textemdash}A report of 74 cases with systematic review of the literature

11573/1669255 - 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

11573/1622047 - 2022 - Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

11573/1669968 - 2022 - Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene

11573/1673015 - 2022 - Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis

11573/1669247 - 2022 - Role of ductus venosus agenesis in right ventricle development

11573/1617409 - 2022 - Myoclonic epilepsy. case report of a mild phenotype in a pediatric patient expanding clinical spectrum of kcna2 pathogenic variants

11573/1622069 - 2022 - Pathophysiology of coarctation of aorta in dichorionic twins with growth discordance

11573/1669251 - 2022 - Pathophysiology of coarctation of the aorta in dichorionic twins with growth discordance

11573/1622056 - 2022 - Fetal echocardiographic features of absent pulmonary valve syndrome

11573/1672389 - 2022 - Coexisting genetic findings in a cohort of patients with laboratory confirmation of 22q11.2 deletion syndrome

11573/1496141 - 2021 - Prenatal exome sequencing: background, current practice and future perspectives - A systematic review

11573/1669254 - 2021 - Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

11573/1496110 - 2021 - Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy

11573/1619691 - 2021 - External hydrocephalus as a prenatal feature of Noonan Syndrome

11573/1496224 - 2021 - Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings

11573/1669246 - 2021 - Incidental SOS1 variant identified by non-invasive prenatal screening. Prenatal diagnosis and family clinical reassessment

11573/1420262 - 2021 - Neonatal Marfan Syndrome by Inherited Mutation

11573/1645427 - 2021 - When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

11573/1582608 - 2020 - Uniparental disomy of chromosome 16: a case report with a new cardiac malformation Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters

11573/1398547 - 2020 - A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

11573/1421957 - 2020 - Small 7p22.3 microdeletion: case report of Snx8 haploinsufficiency and neurological findings

11573/1260652 - 2019 - Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

11573/1405448 - 2019 - Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease

11573/1278927 - 2019 - Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

11573/1278929 - 2018 - Impact of genetic studies on comprehension and treatment of congenital heart disease

11573/1560711 - 2016 - The embryology of the interatrial septum

11573/1291546 - 2015 - DETECTION OF CARDIOVASCULAR ABNORMALITIES IN PEDIATRIC PATIENTS WITH EHLERS-DANLOS SYNDROME: ROLE OF NEW ECHOCARDIOGRAPHIC TECHNIQUES