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Nature communications, ISSN 2041-1723, 05/2018, Volume 9, Issue 1, pp. 1864 - 11
... (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Lumican - metabolism | Glaucoma, Open-Angle - genetics | Humans | Corneal Diseases - metabolism | Corneal Dystrophies, Hereditary - ethnology | Corneal Diseases - genetics | Ehlers-Danlos Syndrome - genetics | Corneal Dystrophies, Hereditary - pathology | Loeys-Dietz Syndrome - metabolism | Mendelian Randomization Analysis | Fibrillin-1 - metabolism | Cornea - pathology | Keratoconus - pathology | Corneal Diseases - pathology | Decorin - genetics | Gene Expression | Eye Diseases, Hereditary - pathology | Lumican - genetics | ADAMTS Proteins - metabolism | Proteoglycans - metabolism | Ehlers-Danlos Syndrome - ethnology | European Continental Ancestry Group | Myopia - pathology | Cornea - metabolism | Myopia - ethnology | Loeys-Dietz Syndrome - pathology | Corneal Diseases - ethnology | Marfan Syndrome - metabolism | Marfan Syndrome - pathology | Cornea - abnormalities | Quantitative Trait Loci | Proteoglycans - genetics | ADAMTS Proteins - genetics | Transforming Growth Factor beta2 - metabolism | Corneal Dystrophies, Hereditary - genetics | Glaucoma, Open-Angle - pathology | Keratoconus - metabolism | Loeys-Dietz Syndrome - ethnology | Glaucoma, Open-Angle - ethnology | Myopia - metabolism | Ehlers-Danlos Syndrome - pathology | Marfan Syndrome - ethnology | Keratoconus - genetics | Glaucoma, Open-Angle - metabolism | Fibrillin-1 - genetics | Eye Diseases, Hereditary - ethnology | Genome-Wide Association Study | Quantitative Trait, Heritable | Corneal Dystrophies, Hereditary - metabolism | Marfan Syndrome - genetics | Eye Diseases, Hereditary - genetics | Myopia - genetics | Asian Continental Ancestry Group | Keratoconus - ethnology | Ehlers-Danlos Syndrome - metabolism | Loeys-Dietz Syndrome - genetics | Polymorphism, Single Nucleotide | Transforming Growth Factor beta2 - genetics | Genome, Human | Decorin - metabolism | Eye Diseases, Hereditary - metabolism | Glaucoma | Cornea | Genes | Myopia | Association analysis | Genomes | Gene expression | Tissues | Connective tissues | Keratoconus | Collagen | Eye diseases | Extracellular matrix | Index Medicus
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... 
Cardiovascular | Internal Medicine | aneurysm | aorta | genetics | SMAD3 | cerebrovascular disorders | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | 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 | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Journal Article
Revista española de cardiologia, ISSN 0300-8932, 03/2016, Volume 69, Issue 3, pp. 300 - 309
... ( cardiomyopathies, channelopathies, certain aortic diseases, and other syndromes) with a number of common characteristics... 
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Brugada Syndrome - genetics | Long QT Syndrome - complications | Brugada Syndrome - diagnosis | Loeys-Dietz Syndrome - complications | Cardiomyopathy, Hypertrophic, Familial - genetics | Channelopathies - complications | Humans | Cardiovascular Diseases - therapy | Death, Sudden, Cardiac - prevention & control | Brugada Syndrome - complications | Death, Sudden, Cardiac - etiology | Cardiovascular Diseases - genetics | Marfan Syndrome - therapy | Cardiomyopathy, Hypertrophic, Familial - diagnosis | Channelopathies - diagnosis | Cardiomyopathy, Hypertrophic, Familial - complications | Cardiovascular Diseases - complications | Long QT Syndrome - diagnosis | Tachycardia, Ventricular - genetics | Cardiomyopathy, Dilated - diagnosis | Marfan Syndrome - complications | Arrhythmias, Cardiac - genetics | Cardiovascular Diseases - diagnosis | Cardiomyopathy, Dilated - genetics | Tachycardia, Ventricular - therapy | Genetic Predisposition to Disease | Tachycardia, Ventricular - complications | Arrhythmias, Cardiac - therapy | Cardiomyopathy, Dilated - complications | Loeys-Dietz Syndrome - diagnosis | Long QT Syndrome - therapy | Marfan Syndrome - genetics | Channelopathies - therapy | Loeys-Dietz Syndrome - therapy | Channelopathies - genetics | Algorithms | Cardiomyopathy, Hypertrophic, Familial - therapy | Tachycardia, Ventricular - diagnosis | Marfan Syndrome - diagnosis | Long QT Syndrome - genetics | Arrhythmias, Cardiac - complications | Arrhythmias, Cardiac - diagnosis | Loeys-Dietz Syndrome - genetics | Brugada Syndrome - therapy | Cardiomyopathy, Dilated - therapy | Practice Guidelines as Topic | Heart | Genetic aspects | Cardiovascular diseases | Index Medicus
Journal Article
Journal of genetic counseling, ISSN 1059-7700, 2/2017, Volume 26, Issue 1, pp. 21 - 31
Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA... 
Human Genetics | Public Health | Neurofibromatosis type I | Ehlers-Danlos syndrome | Gynecology | Whole-exome sequencing | Familial intracranial aneurysms | Clinical Psychology | Marfan syndrome | Ethics | Loeys-Dietz syndrome | Biomedicine | Intracranial berry aneurysms | Genome-wide association study | Autosomal dominant polycystic kidney disease | Linkage analysis | Loeys‐Dietz syndrome | Genome‐wide association study | Ehlers‐Danlos syndrome | Whole‐exome sequencing | Social Sciences | Life Sciences & Biomedicine | Social Sciences, Biomedical | Health Care Sciences & Services | Health Policy & Services | Genetics & Heredity | Biomedical Social Sciences | Science & Technology | Genetic Predisposition to Disease | Genome-Wide Association Study | Genetic Testing | Loeys-Dietz Syndrome - complications | Intracranial Aneurysm - genetics | Humans | Intracranial Aneurysm - diagnosis | Genetic Counseling | Sequence Analysis, DNA | Marfan Syndrome - genetics | Ehlers-Danlos Syndrome - complications | Intracranial Aneurysm - etiology | Ehlers-Danlos Syndrome - genetics | Neurofibromatosis 1 - complications | Loeys-Dietz Syndrome - genetics | Marfan Syndrome - complications | Neurofibromatosis 1 - genetics | Genetic counseling | Analysis | Mortality | Genomics | Medical genetics | Aneurysms | Genetic research | Genetic aspects | Kidney diseases | Genetic screening | Risk factors | Stroke | Thoracic surgery | Medical imaging | Aneurysm | Systematic review | Genomes | Family medical history | Epidemiology | Counselling | Genetics | Genetic counselling | Age | Veins & arteries | Index Medicus | Review Paper
Journal Article