| Titolo |
Pubblicato in |
Anno |
| 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 |
