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Journal of the American College of Cardiology, ISSN 0735-1097, 2015, Volume 65, Issue 13, pp. 1324 - 1336
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2012, Volume 60, Issue 5, pp. 397 - 403
Objectives The purpose of this study was describe the cardiovascular phenotype of the aneurysms-osteoarthritis syndrome (AOS) and to provide clinical... 
Cardiovascular | Internal Medicine | aneurysm | aorta | genetics | SMAD3 | cerebrovascular disorders | FIBROSIS | CARDIAC & CARDIOVASCULAR SYSTEMS | TGF-BETA | CARDIOMYOPATHY | HEART-DISEASE | STIFFNESS | BICUSPID AORTIC-VALVE | MUTATIONS | MARFANS-SYNDROME | Aneurysm, Dissecting - genetics | Aortic Aneurysm, Thoracic - genetics | Aortic Aneurysm, Thoracic - diagnostic imaging | Humans | Middle Aged | Image Interpretation, Computer-Assisted | Male | Cardiovascular Diseases - genetics | Cause of Death | Osteoarthritis - mortality | Young Adult | Smad3 Protein - genetics | Cardiovascular Diseases - diagnostic imaging | Cardiovascular Diseases - mortality | Adult | Aortic Aneurysm, Thoracic - mortality | Female | Genomic Structural Variation - genetics | Aneurysm - diagnostic imaging | Imaging, Three-Dimensional | Peptide Fragments - genetics | Natriuretic Peptide, Brain - genetics | Vascular Stiffness - genetics | Osteoarthritis - diagnostic imaging | Osteoarthritis - genetics | Syndrome | Aneurysm - genetics | Cerebrovascular Disorders - mortality | Pregnancy | Phenotype | Adolescent | Cerebrovascular Disorders - diagnostic imaging | Chromosome Aberrations | Survival Analysis | Aneurysm, Dissecting - diagnostic imaging | Aged | Cerebrovascular Disorders - genetics | Aneurysm - mortality | Aortography | Genes, Dominant - genetics | Aneurysm, Dissecting - mortality | Cohort Studies | Medical colleges | Peptides | Atrial fibrillation | Aneurysms | Genetic aspects | Universities and colleges | Cardiology | Transforming growth factors | Marfan syndrome | Natriuretic peptides | Osteoarthritis | Medical genetics | Studies | Genotype & phenotype | Sinuses | Medical imaging | Mortality | Tomography | Arthritis | Dissection | Patients | Age | Abdomen
Journal Article
Journal of Cardiology Cases, ISSN 1878-5409, 2014, Volume 10, Issue 3, pp. 81 - 84
Abstract We report an anorexic adolescent girl with an intermittent Brugada syndrome. A 14-year-old anorexic girl with a body mass index (BMI) of 13.15 kg/m2... 
Cardiovascular | Iatrogenic | Anorexia nervosa | Brugada syndrome | Weight loss | Hypothermia
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 8, pp. 922 - 927
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2017, Volume 127, Issue 9, pp. 3543 - 3556
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 42 - 50
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2015, Volume 23, Issue 2, pp. 224 - 228
Journal Article
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 07/2019, Volume 27, Issue 7, pp. 1044 - 1053
Progressive dilatation of the thoracic aorta leads to thoracic aortic aneurysm (TAA), which is often asymptomatic but predisposes to lethal aortic dissections... 
BMP | BIOCHEMISTRY & MOLECULAR BIOLOGY | ANEURYSMS | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | 15Q11.2 | Bone morphogenetic protein 2 | Craniosynostosis | Coronary vessels | Alleles | Aneurysms | Aorta | Single-nucleotide polymorphism | Thorax | Aortic valve
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 01/2018, Volume 61, Issue 1, pp. 8 - 10
Left ventricular non-compaction (cardiomyopathy) (LVN(C)) is a rare hereditary cardiac condition, resulting from abnormal embryonic myocardial development.... 
Ebstein anomaly | Left-ventricular non-compaction | TPM1 | Exome sequencing | NONCOMPACTION | VARIANTS | GENES | GENETICS & HEREDITY | DILATED CARDIOMYOPATHY | PREVALENCE
Journal Article