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45 results on '"Muiño-Mosquera L"'

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1. Pregnancy in Women With SMAD3 Mutation

4. Aortic and arterial manifestations and clinical features in TGFB3 -related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.

5. Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.

6. Assessment of Myocardial Fibrosis in Marfan Syndrome Using Cardiac Magnetic Resonance Imaging.

7. Management of aortic disease in children with FBN1-related Marfan syndrome.

8. ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.

9. Editorial: Rising stars in pediatric cardiology 2023.

10. Spontaneous resolution of an intrapericardial thrombus as a complication of pericardiocentesis in a neonate.

11. Evaluation of late cardiac effects after multisystem inflammatory syndrome in children.

13. Physical activity and physical fitness in children with heritable connective tissue disorders.

14. Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing.

15. Editorial: Women in pediatric cardiology 2021.

16. 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.

17. EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

18. Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.

19. Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study.

20. Association of Mitral Annular Disjunction With Cardiovascular Outcomes Among Patients With Marfan Syndrome.

21. Cardiomyopathy in Genetic Aortic Diseases.

22. A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.

23. Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO.

24. A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.

25. Analysis of the recovery phase after maximal exercise in children with repaired tetralogy of Fallot and the relationship with ventricular function.

26. Genetics in congenital heart disease. Are we ready for it?

27. Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective study.

28. Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review.

30. Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome.

31. Correction: Arterial tortuosity syndrome: 40 new families and literature review.

32. Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome.

33. SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.

34. Frequency of Ventricular Arrhythmias and Other Rhythm Abnormalities in Children and Young Adults With the Marfan Syndrome.

35. Arterial tortuosity syndrome: 40 new families and literature review.

37. Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.

39. Efficacy of losartan as add-on therapy to prevent aortic growth and ventricular dysfunction in patients with Marfan syndrome: a randomized, double-blind clinical trial.

40. Sex, pregnancy and aortic disease in Marfan syndrome.

41. Pregnancy in Women With SMAD3 Mutation.

42. International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

43. Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses.

44. Managing aortic aneurysms and dissections during pregnancy.

45. Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

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