215 results on '"Putotto, Carolina"'
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2. Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
3. Laterality, heterotaxy, and isolated congenital heart defects: The genetic basis of the segmental nature of the heart
4. Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
5. Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study
6. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
7. COVID-19 Severity, Cardiological Outcome, and Immunogenicity of mRNA Vaccine on Adult Patients With 22q11.2 DS
8. Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease
9. Salivary α‐Synuclein as a Candidate Biomarker of Parkinsonism in 22q11.2 Deletion Syndrome
10. Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation
11. Serum prokineticin-2 in prepubertal and adult Klinefelter individuals
12. 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
13. Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management
14. Clinical Manifestations of 22q11.2 Deletion Syndrome
15. From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes.
16. Efficacy and safety of clozapine in treatment-resistant psychotic patients with DiGeorge syndrome (22q11.2 deletion syndrome): a case series.
17. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
18. Contributors
19. Congenital heart disease and cardiovascular abnormalities associated with 22q11.2 deletion syndrome
20. Healthcare transitions for adolescents and adults with 22q11.2 deletion syndrome
21. Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study
22. Efficacy and safety of clozapine in treatment-resistant psychotic patients with DiGeorge syndrome (22q11.2 deletion syndrome): a case series
23. Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.
24. Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report
25. Impact of genetic studies on comprehension and treatment of congenital heart disease
26. Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
27. Gender differences in congenital heart defects: a narrative review
28. Prenatal versus Postnatal Diagnosis of 22q11.2 Deletion Syndrome: Cardiac and Non-Cardiac Outcomes through 1 Year of Age
29. 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
30. Genetics of atrioventricular canal defects
31. Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome
32. Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions
33. Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review
34. Neuroimmune Dysregulation in Prepubertal and Adolescent Individuals Affected by Klinefelter Syndrome
35. Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study
36. Transpositions of the great arteries versus aortic dextropositions. A review of some embryogenetic and morphological aspects
37. The heart in RASopathies
38. Neuroimmune Dysregulation in Prepubertal and Adolescent Individuals Affected by Klinefelter Syndrome
39. Sindrome da delezione del cromosoma 22q11.2: valutazione della funzione cardiorespiratoria, delle patologie extracardiache e correlazioni genotipo-fenotipo
40. 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects
41. Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal gene
42. Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes—A report of 74 cases with systematic review of the literature
43. Hybrid Single-Stage Repair of Kommerell’s Diverticulum in a Right Aortic Arch in a Patient With 22q11.2 Deletion Syndrome
44. 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.
45. Transpositions of the great arteries versus aortic dextropositions. A review of some embryogenetic and morphological aspects.
46. Recognition of facial emotion expressions and perceptual processes in 22q11.2 deletion syndrome.
47. Recognition of facial emotion expressions and perceptual processes in 22q11.2 deletion syndrome
48. Is Aripiprazole Useful for Treatment of Psychotic Symptoms in a Patient With 22q11.2 Deletion Syndrome?: A Case Series.
49. Congenital heart defects in molecularly confirmed KBG syndrome patients
50. Social Cognition Impairments in 22q11.2DS Individuals With and Without Psychosis: A Comparison Study With a Large Population of Patients With Schizophrenia
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