181 results on '"Cardaropoli, Simona"'
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2. Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
3. Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
4. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
5. DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
6. Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood
7. Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
8. Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib
9. Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth
10. Maternal serum levels and placental expression of hepcidin in preeclampsia
11. The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
12. Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
13. Helicobacter pylori seropositivity and pregnancy-related diseases: a prospective cohort study
14. Skewed X-chromosome Inactivation in Unsolved Neurodevelopmental Disease Cases Can Guide Re-evaluation for X-linked Genes
15. Successful treatment with MEK ‐inhibitor in a patient withNRAS‐related cutaneous skeletal hypophosphatemia syndrome
16. Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques
17. Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies
18. Assisted reproduction techniques and prenatal diagnosis of Beckwith–Wiedemann spectrum presenting with omphalocele
19. MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease
20. Lateralized and Segmental Overgrowth in Children
21. Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome.
22. Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA ‐related overgrowth spectrum
23. Clinical and molecular characterization of patients with Beckwith-Wiedemann spectrum conceived through assisted reproductive technology
24. Role of the Macrophage Migration Inhibitory Factor in the Pathophysiology of Pre-Eclampsia
25. A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth
26. Genetic and molecular evidence for complement dysregulation in patients with HELLP syndrome
27. Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing
28. Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing.
29. Interleukin-18 and gestosis: correlation with Helicobacter pylori seropositivity
30. Cover Image, Volume 179A, Number 9, September 2019
31. Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome
32. Pregnancy Epigenetic Signature in T Helper 17 and T Regulatory Cells in Multiple Sclerosis
33. Missense variants in RPH3Acause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
34. Helicobacter pylori seropositivity and gestational diabetes mellitus – A prospective cohort study
35. Helicobacter pyloriinfection contributes to placental impairment in preeclampsia: basic and clinical evidences
36. Role of Inflammatory Chemokines in Gestational Diabetes Pathogenesis
37. Characterization of Decoy Receptors D6 and DUFFY in Preeclamptic Placental Tissues
38. Feto-placental vascularization: A multifaceted approach
39. Characterization of Activator Protein-1 (AP-1) Family Gene Expression in Placental Mesenchymal Stem Cells derived from Normal and Preeclamptic Pregnancies
40. HMGB1 and RAGE Expression on Human Foetal Membranes at term gestation and in Preeclampsia
41. Preeclampsia complicated by Fetal Growth Restriction is associated to Helicobacter pylori’s virulence
42. Differential expression of Tight Junction proteins in preeclamptic placentae
43. Insights into the Role of Helicobacter pylori Infection in Preeclampsia: From the Bench to the Bedside
44. Preeclampsia and risk of cardiovascular disease: epidemiology and Pathophysiology
45. Placental expression of HGF, c-MET and TGF-beta1 in pregnancies complicated by preeclampsia
46. Localizzazione ed espressione placentare di TGF-b1, TGF-bRI e p-Smad2 in gravidanze complicate da preeclampsia
47. Is preeclampsia an infectious disease?
48. Espressione placentare di HGF, C-MET e TGF-BETA1 ingravidanze complicate da preeclampsia
49. Placental localization and expressions of TGF-beta1, TGF-betaRI and p-Smad2 in pregnacies complicated by Preeclampsia
50. Idrope fetale e Mirror Syndrome: from bed to bench
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