G. Mastromoro

发表

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

T. Mazza, A. Pizzuti, M. Tartaglia, 2021, Genetics in Medicine.

Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy

T. Mazza, A. Pizzuti, M. Tartaglia, 2019, Human mutation.

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

A. Pizzuti, L. Bernardini, G. Piacentini, 2022, Diagnostics.

The Embryology of the Interatrial Septum

B. Marino, F. Ventriglia, P. Versacci, 2016 .

Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants

A. Pizzuti, A. Spalice, G. Mastromoro, 2022, Frontiers in Neurology.

Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease

A. Pizzuti, S. Gambardella, C. Di Bonaventura, 2019, Neurodegenerative Diseases.

Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes—A report of 74 cases with systematic review of the literature

M. Digilio, B. Marino, A. Secinaro, 2022, American journal of medical genetics. Part A.

Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer

A. Pizzuti, V. Salvati, G. Mastromoro, 2022, Diagnostics.

Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease.

M. Digilio, V. Caputo, L. Bernardini, 2022, European journal of medical genetics.

Idiopathic generalized epilepsy and café-au-lait macules as the predominant features in NF1 mild form

A. Pizzuti, S. Ferracuti, A. Giallonardo, 2021 .

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

H. Cavé, M. Digilio, M. Tartaglia, 2020, European Journal of Human Genetics.

Incidental SOS1 variant identified by non-invasive prenatal screening: Prenatal diagnosis and family clinical reassessment.

A. Pizzuti, M. Baldi, F. Ventriglia, 2020, European journal of obstetrics, gynecology, and reproductive biology.

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

A. Baldini, M. Digilio, B. Marino, 2019, bioRxiv.

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

A. Pizzuti, G. Mastromoro, A. Traversa, 2022, Diagnostics.

Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review

A. Pizzuti, G. Mastromoro, Daniele Guadagnolo, 2021, Diagnostics.

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

N. Brunetti‐Pierri, T. Mazza, M. Digilio, 2023, European Journal of Human Genetics.

Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells

A. Pizzuti, L. Bernardini, I. Torrente, 2023, American journal of medical genetics. Part A.

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

A. Pizzuti, L. Bernardini, A. Giancotti, 2022, Diagnostics.

Heterozygous Pathogenic Nonsense ATM Variant Resulting in Unusually High Gastric Cancer Susceptibility

A. Pizzuti, G. Mastromoro, M. Piane, 2021 .

Impact of genetic studies on comprehension and treatment of congenital heart disease

M. Digilio, B. Marino, Marta Unolt, 2018, Progress in Pediatric Cardiology.

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

I. Simonelli, R. Squitti, M. Ventriglia, 2023, International journal of molecular sciences.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

H. Cavé, M. Digilio, M. Tartaglia, 2020, European Journal of Human Genetics.

Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2‐opathy

A. Pizzuti, E. Agolini, A. Novelli, 2021, American journal of medical genetics. Part A.

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

T. Mazza, A. Pizzuti, V. Guida, 2019, American journal of medical genetics. Part A.

RECURRENT PRENATAL PIEZO1-RELATED LYMPHATIC DYSPLASIA: EXPANDING MOLECULAR AND ULTRASOUND FINDINGS.

M. D. Di Gregorio, A. Pizzuti, A. Novelli, 2020, European journal of medical genetics.

External hydrocephalus as a prenatal feature of noonan syndrome

A. Pizzuti, A. De Luca, L. Manganaro, 2021, Annals of human genetics.

Prenatal CFAP53-related laterality defect: case report and review of the literature

A. Pizzuti, L. Bernardini, A. Novelli, 2023, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

A. Pizzuti, G. Mastromoro, M. Piane, 2023, Biomedicines.

Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings.

A. Pizzuti, L. Bernardini, A. Spalice, 2020, European journal of medical genetics.

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.

G. Mastromoro, Daniele Guadagnolo, E. Marchionni, 2024, European journal of human genetics : EJHG.