Carolina Putotto | Ricerc@Sapienza

Publications

Title	Published on	Year
Hybrid Single-Stage Repair of Kommerell’s Diverticulum in a Right Aortic Arch in a Patient With 22q11.2 Deletion Syndrome	VASCULAR AND ENDOVASCULAR SURGERY	2022
Neuroimmune dysregulation in prepubertal and adolescent individuals affected by Klinefelter syndrome	ENDOCRINE, METABOLIC & IMMUNE DISORDERS DRUG TARGETS	2022
COVID-19 Severity, Cardiological Outcome, and Immunogenicity of mRNA Vaccine on Adult Patients With 22q11.2 DS	JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. IN PRACTICE	2022
The heart in RASsopathies	AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS	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
Social cognition impairments in 22q11.2DS individuals with and without psychosis: a comparison study with a large population of patients with schizophrenia	SCHIZOPHRENIA BULLETIN OPEN	2022
Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal gene	CARDIOLOGY IN THE YOUNG	2022
Impaction of regurgitation jet on anterior mitral leaflet is associated with diastolic dysfunction in patients with bicuspid aortic valve and mild insufficiency: a cardiovascular magnetic resonance study	THE INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING	2021
Cardiac defects and genetic syndromes: old uncertainties and new insights	GENES	2021
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects	CLINICAL GENETICS	2021
Anatomical substrate for biventricular repair in patients with left isomerism	ANNALS OF PEDIATRIC CARDIOLOGY	2021
Congenital heart defects in molecularly confirmed KBG syndrome patients	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2021
Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report	THE ITALIAN JOURNAL OF PEDIATRICS	2021
Commentary: sVEGFR1 Is Enriched in Hepatic Vein Blood—Evidence for a Provisional Hepatic Factor Candidate?	FRONTIERS IN PEDIATRICS	2021
Impaction of Regurgitation Jet on Anterior Mitral Leaflet Causes Diastolic Dysfunction in Patients With Bicuspid Aortic Valve and Mild Insufficiency: A Cardiovascular Magnetic Resonance Study	THE INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING	2021
Neuroinflammatory markers in the serum of prepubertal children with down syndrome	JOURNAL OF IMMUNOLOGY RESEARCH	2020
Social cognition deficit and genetic vulnerability to schizophrenia in 22q11 deletion syndrome	ANNALI DELL'ISTITUTO SUPERIORE DI SANITÀ	2020
Genetics of atrioventricular canal defects	THE ITALIAN JOURNAL OF PEDIATRICS	2020