374 results on '"Ritelli, Marco"'
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2. Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts
3. FIRST COMPREHENSIVE ECHOCARDIOGRAPHIC ASSESSMENT IN PATIENTS WITH VASCULAR EHLERS-DANLOS SYNDROME WITH OR WITHOUT CELIPROLOL THERAPY AT THE MAXIMUM RECOMMENDED DOSE
4. Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers–Danlos Syndrome: Focus on Vascular Prevention.
5. Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke
6. Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts
7. Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency
8. Despite celiprolol therapy, patients with vascular Ehlers–Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center.
9. Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy
10. Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts
11. Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome
12. Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers‐Danlos syndrome: A retrospective cross‐sectional study from an Italian reference center.
13. Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers‐Danlos syndrome: A retrospective cross‐sectional study from an Italian reference center
14. A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing
15. Skeletal fragility: an emerging complication of Ehlers–Danlos syndrome
16. Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
17. A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder
18. Alcohol intake and the risk of intracerebral hemorrhage in the elderly: The MUCH-Italy
19. RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms
20. Arterial tortuosity in patients with spontaneous cervical artery dissection
21. Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant
22. Phacomatosis pigmentovascularis spilorosea mit Mutation im PTPN11 Gen: neuer Fall mit erheblichen neurologischen Beeinträchtigungen
23. Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment
24. Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports
25. Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders
26. COL6A5 variants in familial neuropathic chronic itch
27. Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review
28. Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review
29. Ehlers–Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA
30. Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder
31. Truncating variants in the penultimate exon of TGFBR1escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome
32. Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts: A Potential Therapeutic Target?
33. Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage
34. GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts
35. Age-dependent effect of susceptibility factors on the risk of intracerebral haemorrhage: Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy)
36. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders
37. Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type
38. Nosology and Inheritance Pattern(s) of Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome, Hypermobility Type: A Study of Intrafamilial and Interfamilial Variability in 23 Italian Pedigrees
39. Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain
40. Additional file 2 of Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
41. Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa
42. Obesity and the Risk of Intracerebral Hemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy
43. Complications of Acute Stroke and the Occurrence of Early Seizures
44. Recurring and Generalized Visceroptosis in Ehlers–Danlos Syndrome Hypermobility Type
45. Thoracic Aortic Aneurysm in Infancy in Aneurysms–Osteoarthritis Syndrome Due to a Novel SMAD3 Mutation: Further Delineation of the Phenotype
46. Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome hypermobility type) in 82 Italian patients
47. Spontaneous coronary artery dissection in a young woman with Loeys–Dietz syndrome
48. Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene
49. Mutations in TGFBR2 gene cause spontaneous cervical artery dissection
50. Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing
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