Carolina Putotto | Ricerc@Sapienza

Publications

Title	Published on	Year
From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes	THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM	2024
Efficacy and safety of clozapine in treatment-resistant psychotic patients with DiGeorge syndrome (22q11.2 deletion syndrome): a case series	INTERNATIONAL CLINICAL PSYCHOPHARMACOLOGY	2024
Salivary α‐Synuclein as a Candidate Biomarker of Parkinsonism in 22q11.2 Deletion Syndrome	MOVEMENT DISORDERS CLINICAL PRACTICE	2024
Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia	JOURNAL OF INTELLECTUAL DISABILITY RESEARCH	2024
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case–control study	EPILEPSIA	2024
Recognition of facial emotion expressions and perceptual processes in 22q11.2 deletion syndrome	EARLY INTERVENTION IN PSYCHIATRY	2023
Transpositions of the great arteries versus aortic dextropositions. A review of some embryogenetic and morphological aspects	THE ANATOMICAL RECORD	2023
Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2023
Neuroimmune dysregulation in prepubertal and adolescent individuals affected by Klinefelter syndrome	ENDOCRINE, METABOLIC & IMMUNE DISORDERS. DRUG TARGETS	2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome	EUROPEAN JOURNAL OF HUMAN GENETICS	2023
Prenatal screening and diagnostic considerations for 22q11.2 microdeletions	GENES	2023
The relationship between motor symptoms, signs, and parkinsonism with facial emotion recognition deficits in individuals with 22q11.2 deletion syndrome at high genetic risk for psychosis	ACTA NEUROLOGICA SCANDINAVICA	2023
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome	GENETICS IN MEDICINE	2023
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease	EUROPEAN JOURNAL OF MEDICAL GENETICS	2023
Social cognition and real‐life functioning in patient samples with 22q11.2 deletion syndrome with or without psychosis, compared to a large sample of patients with schizophrenia only and healthy controls	JOURNAL OF NEUROPSYCHOLOGY	2023
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age	AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY	2023
Serum prokineticin-2 in prepubertal and adult Klinefelter individuals	CANADIAN JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY	2022
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management	HEART FAILURE CLINICS	2022
Clinical Manifestations of 22q11.2 Deletion Syndrome	HEART FAILURE CLINICS	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