Flaminia Pugnaloni | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case–control study	EPILEPSIA	2024
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease	EUROPEAN JOURNAL OF MEDICAL GENETICS	2023
Staphylococcal Infections and Neonatal Skin: Data from Literature and Suggestions for the Clinical Management from Four Challenging Patients	ANTIBIOTICS	2023
Early Postnatal Ventricular Disproportion Predicts Outcome in Congenital Diaphragmatic Hernia	AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE	2023
A dangerous food binge. a case report of hypokalemic periodic paralysis and review of current literature	THE ITALIAN JOURNAL OF PEDIATRICS	2022
22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects	CHILDREN	2022
Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study	GENES	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	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2022
CA125: a novel cardiac biomarker for infants with congenital diaphragmatic hernia	PEDIATRIC RESEARCH	2022
Echocardiographic Assessment of Pulmonary Hypertension in Neonates with Congenital Diaphragmatic Hernia Using Pulmonary Artery Flow Characteristics	JOURNAL OF CLINICAL MEDICINE	2022
Atrioventricular canal defect is the classic congenital heart disease in Bardet-Biedl syndrome	ANNALS OF HUMAN GENETICS	2021
Cardiac defects and genetic syndromes: old uncertainties and new insights	GENES	2021
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2021
Genetics of atrioventricular canal defects	THE ITALIAN JOURNAL OF PEDIATRICS	2020
Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog	CLINICAL GENETICS	2019
Some Isolated Cardiac Malformations Can Be Related to Laterality Defects	JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE	2018