Carolina Putotto
Rome, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 71 publications
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: March 27, 2026
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: March 27, 2026
Rational and design of the digital diagnosis of cardiac sounds in paediatric patients (DI_SOUND) study.
Journal: European heart journal. Digital health
Published: January 02, 2026
Morphological and functional echocardiographic findings in pediatric patients diagnosed with hypermobile Ehlers-Danlos syndrome.
Journal: Frontiers in pediatrics
Published: December 15, 2025
On atrioventricular canal defects in patients with and without -down syndrome: A further look.
Journal: The Journal of thoracic and cardiovascular surgery
Published: September 18, 2025
Prenatal Alcohol Exposure and Congenital Heart Defects: Retinoic Acid Deficiency as a Potential Mechanism in Dextro-Type Transposition of the Great Arteries.
Journal: Pathophysiology : the official journal of the International Society for Pathophysiology
Published: March 25, 2025
Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain.
Journal: American journal of medical genetics. Part A
Published: March 16, 2025
Assessment of vascular tortuosity in 22q11.2 deletion syndrome using optical coherence tomography angiography.
Journal: Photodiagnosis and photodynamic therapy
Published: March 10, 2025
Investigating psychiatric morbidity, hopelessness and suicide risk in patients with 22q11.2 deletion syndrome: a case-control study.
Journal: International journal of psychiatry in clinical practice
Published: November 18, 2024
RASopathy Syndrome: Do Not Overlook Mitral Valve Anomalies!
Journal: JACC. Case reports
Published: November 01, 2024
Variable Effects of Laterality Genes on Disharmony Between Different Thoraco-Abdominal Organs and Between Individual Cardiac Segments.
Journal: Pediatric cardiology
Published: August 05, 2024
Last Updated: 09/26/2026