273 results on '"Pepe, Guglielmina"'
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2. HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN
3. The Heart Muscle and Valve Involvement in Marfan Syndrome, Loeys-Dietz Syndromes, and Collagenopathies
4. When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score
5. Arterial tortuosity index, a promising imaging marker for early detection of Loeys-Dietz syndrome
6. Role of lipoprotein (a) and LPA KIV2 repeat polymorphism in bicuspid aortic valve stenosis and calcification: a proof of concept study
7. Ullrich Scleroatonic Muscular Dystrophy is Caused by Recessive Mutations in Collagen Type VI
8. European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants
9. Poster No. 132 HTAD PATIENT PATHWAY: Strategy for diagnostic work-up of patients and families with (suspected) Heritable Thoracic Aortic Diseases (HTAD). A statement from the HTAD Working Group of VASCERN
10. Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection
11. Biomarkers in Acute Aortic Syndrome
12. A group of patients with Marfan’s syndrome, who have finger and toe contractures, displays tendons’ alterations upon an ultrasound examination: are these features common among classical Marfan patients?
13. Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2
14. RNA Processing Errors in Patients with β -thalassemia
15. Identification of a Polymorphic CA Repeat in the COL6A2 Gene on Human Chromosome 21q22.3
16. AGT and ACE genes influence classic mitral valve prolapse predisposition in Marfan patients
17. Two-Dimensional Aortic Size Normalcy: A Novelty Detection Approach
18. A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy
19. Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?
20. When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score
21. Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome
22. A Gene Conversion Hotspot in the Human Growth Hormone (GH1) Gene Promoter
23. Additional file 1: of European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants
24. Diversity of Cystathionine b-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T > C: A Possible Role for Gene Conversion
25. Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency
26. High prevalence of mild hyperhomocysteinemia in patients with abdominal aortic aneurysm
27. Importance of dural ectasia in phenotypic assessment of Marfan's syndrome
28. Acquired Activated Protein C Resistance in Postmenopausal Women Is Dependent on Factor Vlll: c Levels
29. AB0843 HYPOVITAMINOSIS D IN A MARFAN POPULATION
30. Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy
31. Muscle MRI findings in a three-generation family affected by Bethlem myopathy
32. Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype
33. Role of lipoprotein (a) and LPA KIV2 repeat polymorphism in bicuspid aortic valve stenosis and calcification: a proof of concept study
34. Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome
35. Importance of dural ectasia in phenotypic assessment of M arfan's syndrome
36. Studies on Four Restriction Fragment Length Polymorphisms of the Type I Collagen Genes in Two Italian Populations
37. Marfan syndrome: current perspectives
38. Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis
39. Fibrillins in Tendon
40. Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: Role of dural ectasia for the diagnosis
41. Another piece in the puzzle of bicuspid aortic valve syndrome
42. A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection
43. Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen
44. Bicuspid aortic valve syndrome and fibrillinopathies: potential impact on clinical approach
45. Biomarkers in Acute Aortic Syndrome
46. Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome
47. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
48. Angiotensi-converting enzyme DD genotype, angiotensin type 1 receptor CC genotype, and hyperhomocysteinmeia increase first-trimester fetal-loss susceptibility
49. Vascular and connective tissue features in 5 Italian patients with homocystinuria
50. May TGFBR1 act also as low penetrance allele in Marfan syndrome?
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