Found: 21
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Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0221-6
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- Publication type:
- Article
Shedding light on type B aortic dissection in Marfan syndrome: implications for patient counselling and research priorities.
- Published in:
- European Journal of Cardio-Thoracic Surgery, 2023, v. 64, n. 1, p. 1, doi. 10.1093/ejcts/ezad252
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- Publication type:
- Article
Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 12, p. 2079, doi. 10.3390/jcm8122079
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- Publication type:
- Article
Physical fitness in children with Marfan and Loeys-Dietz syndrome: associations between cardiovascular parameters, systemic manifestations, fatigue, and pain.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 5, p. 2421, doi. 10.1007/s00431-024-05456-z
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- Publication type:
- Article
Preferences for disease-related information and transitional skills among adolescents with congenital heart disease in the early transitional stage.
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- European Journal of Pediatrics, 2023, v. 182, n. 9, p. 3917, doi. 10.1007/s00431-023-05020-1
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- Publication type:
- Article
Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22933-3
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- Publication type:
- Article
Spontaneous resolution of an intrapericardial thrombus as a complication of pericardiocentesis in a neonate.
- Published in:
- Cardiology in the Young, 2024, v. 34, n. 4, p. 924, doi. 10.1017/S1047951123004535
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- Publication type:
- Article
Diagnosis of severe congenital heart defects in 2 consecutive periods: increased prenatal detection rate but similar mortality rate.
- Published in:
- Cardiology in the Young, 2022, v. 32, p. S70
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- Publication type:
- Article
Diagnosis of severe congenital heart defects in 2 consecutive periods: increased prenatal detection rate but similar mortality rate.
- Published in:
- Cardiology in the Young, 2022, v. 32, n. S2, p. S70, doi. 10.1017/S1047951122001950
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- Publication type:
- Article
Management of aortic disease in children with FBN1-related Marfan syndrome: A joint statement from the paediatric subgroup of the European Reference Network of Vascular Diseases (VASCERN, Heritable Thoracic Aortic Disease working group) and the Association for European Paediatric and Congenital Cardiology (AEPC)
- Published in:
- European Heart Journal, 2024, v. 45, n. 39, p. 4156, doi. 10.1093/eurheartj/ehae526
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- Publication type:
- Article
Analysis of the recovery phase after maximal exercise in children with repaired tetralogy of Fallot and the relationship with ventricular function.
- Published in:
- PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0244312
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- Publication type:
- Article
Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.
- Published in:
- PLoS ONE, 2024, v. 19, n. 9, p. 1, doi. 10.1371/journal.pone.0304514
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- Publication type:
- Article
Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective study.
- Published in:
- 2020
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- Publication type:
- journal article
Editorial: Rising stars in pediatric cardiology 2023.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1452884
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- Publication type:
- Article
Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.805
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- Publication type:
- Article
Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 751, doi. 10.3390/diagnostics10100751
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- Publication type:
- Article
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1214, doi. 10.3390/genes13071214
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- Publication type:
- Article
A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1048, doi. 10.3390/genes12071048
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- Publication type:
- Article
Bicuspid Aortic Valve Disease with Early-Onset Complications: Characteristics and Aortic Outcomes.
- Published in:
- Hearts, 2024, v. 5, n. 3, p. 253, doi. 10.3390/hearts5030018
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- Publication type:
- Article
Correction: Sex, pregnancy and aortic disease in Marfan syndrome.
- Published in:
- 2018
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- Publication type:
- Correction Notice
Sex, pregnancy and aortic disease in Marfan syndrome.
- Published in:
- PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0181166
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- Publication type:
- Article