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A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1814
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- Article
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1132
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- Article
Impact of a transition education program on health-related quality of life in adolescents and young adults with congenital heart disease.
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- Cardiology in the Young, 2022, v. 32, p. S39
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- Publication type:
- Article
Impact of a transition education program on health-related quality of life in adolescents and young adults with congenital heart disease.
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- Cardiology in the Young, 2022, v. 32, n. S2, p. S39, doi. 10.1017/S1047951122001950
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- Article
Three-dimensional printing of a complex CHD to plan surgical repair.
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- 2016
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- Publication type:
- journal article
Myocardial Infarction in a newborn from a diabetic mother.
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- Cardiology in the Young, 2010, v. 20, n. 4, p. 451, doi. 10.1017/S1047951110000624
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- Article
Pulmonary diffuse arterial calcifications: a very rare complication in the recipient of a twin-to-twin transfusion syndrome.
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- Cardiology in the Young, 2009, v. 19, n. 4, p. 410, doi. 10.1017/S1047951109004181
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- Article
Transthoracic three-dimensional echocardiography prior to closure of atrial septal defects in children.
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- 2003
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- Publication type:
- journal article
Images in congenital heart disease. Atrial septal defect within the oval fossa with enlarged coronary sinus: three-dimensional echocardiography.
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- 2002
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- Publication type:
- journal article
Atrial septal defect within the oval fossa with enlarged coronary sinus: three-dimensional echocardiography.
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- Cardiology in the Young, 2002, v. 12, n. 6, p. 560, doi. 10.1017/S1047951102001014
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- Publication type:
- Article
Early hybrid cardiac rehabilitation in congenital heart disease: the QUALIREHAB trial.
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- European Heart Journal, 2024, v. 45, n. 16, p. 1458, doi. 10.1093/eurheartj/ehae085
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- Article
Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age.
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- Journal of Clinical Medicine, 2023, v. 12, n. 8, p. 2902, doi. 10.3390/jcm12082902
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- Article
Characteristics and long-term outcome of non-immune isolated atrioventricular block diagnosed in utero or early childhood: a multicentre study.
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- European Heart Journal, 2012, v. 33, n. 5, p. 622, doi. 10.1093/eurheartj/ehr347
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- Publication type:
- Article
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03191-0
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- Article
Cardiac strangulation: An atypical complication from epicardial pacemaker leads in a newborn.
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- Annals of Pediatric Cardiology, 2018, v. 11, n. 2, p. 191, doi. 10.4103/apc.APC_175_17
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- Article
Echocardiographic Parameters Predictive of Poor Outcome in Persistent Pulmonary Hypertension of the Newborn (PPHN): Preliminary Results.
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- Pediatric Cardiology, 2021, v. 42, n. 8, p. 1848, doi. 10.1007/s00246-021-02677-z
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- Publication type:
- Article
Health-related quality of life and physical activity in children with inherited cardiac arrhythmia or inherited cardiomyopathy: the prospective multicentre controlled QUALIMYORYTHM study rationale, design and methods.
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- 2021
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- Publication type:
- journal article
Impact of a transition education program on health-related quality of life in pediatric patients with congenital heart disease: study design for a randomised controlled trial.
- Published in:
- 2021
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- Publication type:
- journal article
Tetralogy of Fallot with aortopulmonary window and interrupted aortic arch:multimodality imaging in a rare association.
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- European Heart Journal - Cardiovascular Imaging, 2018, v. 19, n. 6, p. 621, doi. 10.1093/ehjci/jey056
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- Article
Aorto-left ventricular tunnel: an unusual aortic flow, from images to modelling.
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- European Heart Journal - Cardiovascular Imaging, 2018, v. 19, n. 2, p. 238, doi. 10.1093/ehjci/jex246
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- Publication type:
- Article
The relation between atrial septal defect shape, diameter, and area using three-dimensional transoesophageal echocardiography and balloon sizing during percutaneous closure in children.
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- European Heart Journal - Cardiovascular Imaging, 2015, v. 16, n. 7, p. 747, doi. 10.1093/ehjci/jeu316
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- Article
Usefulness of three-dimensional transthoracic echocardiography for the classification of congenital bicuspid aortic valve in children.
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- 2012
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- Publication type:
- Journal Article
Usefulness of three-dimensional transthoracic echocardiography for the classification of congenital bicuspid aortic valve in children.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2012, v. 13, n. 12, p. 1047, doi. 10.1093/ehjci/jes089
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- Publication type:
- Article
Advancing paediatric cardiac imaging: a comprehensive analysis of the feasibility and accuracy of a novel 3D paediatric transoesophageal probe.
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- Frontiers in Cardiovascular Medicine, 2023, p. 1, doi. 10.3389/fcvm.2023.1294109
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- Article
Image of a left atrial mass after a cardiopulmonary bypass in a child.
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- Echocardiography, 2017, v. 34, n. 10, p. 1546, doi. 10.1111/echo.13583
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- Article
Endothelial Function and Vascular Properties in Children with Sickle Cell Disease.
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- Echocardiography, 2015, v. 32, n. 8, p. 1285, doi. 10.1111/echo.12851
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- Publication type:
- Article
Tethering of Tricuspid Valve Resulting from Aberrant Tendinous Cords Mimic Ebstein's Anomaly, Three-Dimensional Echocardiography Approach.
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- Echocardiography, 2014, v. 31, n. 4, p. E136, doi. 10.1111/echo.12507
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- Article
Live 3D Echocardiography with the Pediatric Matrix Probe.
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- Echocardiography, 2007, v. 24, n. 7, p. 750, doi. 10.1111/j.1540-8175.2007.00485.x
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- Publication type:
- Article
Assessment of Atrial Septal Defect Size with 3D-Transesophageal Echocardiography: Comparison with Balloon Method.
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- Echocardiography, 2005, v. 22, n. 2, p. 121, doi. 10.1111/j.0742-2822.2005.03153.x
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- Article
The usefulness of 3D printed heart models for medical student education in congenital heart disease.
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- BMC Medical Education, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12909-021-02917-z
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- Article
Real-time three-dimensional fetal echocardiography using matrix probe.
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- 2005
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- Publication type:
- journal article
Feasibility and accuracy of printed models of complex cardiac defects in small infants from cardiac computed tomography.
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- Pediatric Radiology, 2021, v. 51, n. 11, p. 1983, doi. 10.1007/s00247-021-05110-y
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- Article
Marfan Sartan: a randomized, double-blind, placebo-controlled trial.
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- European Heart Journal, 2015, v. 36, n. 32, p. 2160, doi. 10.1093/eurheartj/ehv151
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- Article
Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.
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- Journal of Bone & Mineral Research, 2015, v. 30, n. 8, p. 1369, doi. 10.1002/jbmr.2471
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- Publication type:
- Article