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The Lancet (British edition), ISSN 0140-6736, 2005, Volume 366, Issue 9501, pp. 1965 - 1976
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2014, Volume 802, pp. 107 - 127
Marfan Syndrome (MFS) and Loeys-Dietz Syndrome (LDS) represent heritable connective tissue disorders that cosegregate with a similar pattern of cardiovascular defects... 
TGF-β receptor | Shprintzen-Goldberg syndrome | Loeys-Dietz syndrome (LDS) | Familial thoracic aortic aneurysm and dissection syndrome (FTAAD) | Primary pulmonary hypertension | Smad | Curacao diagnostic criteria | Hereditary hemorrhagic telangiectasia (HHT) | Marfan syndrome (MFS) | Fibrodysplasia ossificans progressiva (FOP) | HEREDITARY HEMORRHAGIC TELANGIECTASIA | SHPRINTZEN-GOLDBERG-SYNDROME | BINDING-PROTEIN | THORACIC AORTIC-ANEURYSMS | PULMONARY ARTERIOVENOUS-MALFORMATIONS | LATENT TGF-BETA | TGF-beta receptor | CELL BIOLOGY | Shprintzen-Goldberg syndrome hereditary hemorrhagic telangiectasia (HHT) | MARFAN-SYNDROME | GENETICS & HEREDITY | ARTERIAL-TORTUOSITY-SYNDROME | SMOOTH-MUSCLE-CELLS | EXTRACELLULAR-MATRIX | Loeys-Dietz Syndrome - surgery | Aortic Aneurysm, Thoracic - genetics | Receptors, Transforming Growth Factor beta - genetics | Heart Valve Diseases - pathology | Heart Defects, Congenital - surgery | Angiotensin II Type 1 Receptor Blockers - therapeutic use | Humans | Marfan Syndrome - surgery | Loeys-Dietz Syndrome - drug therapy | Aortic Aneurysm, Thoracic - drug therapy | Heart Valve Diseases - surgery | Aortic Valve - surgery | Aortic Valve - pathology | Heart Defects, Congenital - genetics | Marfan Syndrome - drug therapy | Aortic Aneurysm, Thoracic - pathology | Transforming Growth Factor beta - antagonists & inhibitors | Adrenergic beta-Antagonists - therapeutic use | Gene Expression Regulation | Heart Defects, Congenital - pathology | Antibodies, Neutralizing - pharmacology | Heart Defects, Congenital - drug therapy | Smad Proteins - genetics | Signal Transduction - genetics | Marfan Syndrome - genetics | Loeys-Dietz Syndrome - pathology | Transforming Growth Factor beta - genetics | Heart Valve Diseases - genetics | Aortic Aneurysm, Thoracic - surgery | Marfan Syndrome - pathology | Heart Valve Diseases - drug therapy | Loeys-Dietz Syndrome - genetics | Mutation
Conference Proceeding
Journal of Clinical Gastroenterology, ISSN 0192-0790, 10/2019, Volume 53, Issue 9, pp. 653 - 659
...) symptoms, diagnoses of functional GI diseases (FGIDs), and pelvic floor symptoms associated with Ehlers-Danlos syndrome (EDS... 
UNITED-STATES | FECAL INCONTINENCE | functional GI disorders | joint hypermobility syndrome | ehlers-danlos syndrome | irritable bowel syndrome | ADULTS | functional dyspepsia | GASTROENTEROLOGY & HEPATOLOGY | Marfan syndrome | URINARY-INCONTINENCE
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2014, Volume 64, Issue 16, pp. 1725 - 1739
...; the underpinnings of genetic diseases associated with aneurysm and dissection, including Marfan syndrome and the role of transforming growth factor beta signaling... 
Cardiovascular | Internal Medicine | aortic aneurysm | risk factors | endovascular procedures | transforming growth factor beta | cardiac surgical procedures | Marfan syndrome | ASCENDING AORTA | ROOT REPLACEMENT | INTERNATIONAL-REGISTRY | CARDIAC & CARDIOVASCULAR SYSTEMS | PREVIOUS CARDIAC-SURGERY | AMERICAN-COLLEGE | VALVULAR HEART-DISEASE | EXPERT CONSENSUS DOCUMENT | MARFAN-SYNDROME | ENDOVASCULAR TREATMENT | ASSOCIATION TASK-FORCE | Aneurysm, Dissecting - diagnosis | Aneurysm, Dissecting - epidemiology | Marfan Syndrome - epidemiology | Humans | Ehlers-Danlos Syndrome - therapy | Ehlers-Danlos Syndrome - epidemiology | Aneurysm, Dissecting - therapy | Turner Syndrome - diagnosis | Marfan Syndrome - therapy | Turner Syndrome - epidemiology | Animals | Aortic Aneurysm, Thoracic - diagnosis | Marfan Syndrome - diagnosis | Aortic Aneurysm, Thoracic - epidemiology | Aortic Aneurysm, Thoracic - therapy | Turner Syndrome - therapy | Ehlers-Danlos Syndrome - diagnosis | Enzymes | Enzyme inhibitors | Surgery | Therapeutics | Angiotensin | Aneurysms | Homeopathy | Materia medica and therapeutics | Hypertension | Genetic disorders | Disease | Cytokines | Heart surgery | Smooth muscle | Family medical history | Risk factors | Studies | Hospitals | Coronary vessels | Tomography | Extracellular matrix | Cocaine | Dissection
Journal Article
Canadian Journal of Cardiology, ISSN 0828-282X, 2014, Volume 30, Issue 6, pp. 577 - 589
...). This document is not a comprehensive overview of TAD and important elements of the epidemiology, presentation, diagnosis, and management of acute aortic syndromes are deliberately not discussed... 
Cardiovascular | INTERNATIONAL-REGISTRY | ENDOVASCULAR REPAIR | CARDIAC & CARDIOVASCULAR SYSTEMS | VALVE-REPLACEMENT | STENT GRAFTS | ASYMPTOMATIC PATIENTS | NATURAL-HISTORY | COMPUTED-TOMOGRAPHY | AMERICAN-SOCIETY | EHLERS-DANLOS-SYNDROME | ANEURYSM REPAIR | Genetic Testing | Loeys-Dietz Syndrome - complications | Humans | Patient Care Team | Hypertension - drug therapy | Aortic Valve - surgery | Cardiac Catheterization | Ehlers-Danlos Syndrome - genetics | Exercise | Aortic Aneurysm, Thoracic - pathology | Aneurysm, Dissecting - surgery | Turner Syndrome - complications | Aneurysm, Dissecting - prevention & control | Decision Making | Risk Assessment | Coronary Artery Disease - prevention & control | Endovascular Procedures | Antihypertensive Agents - therapeutic use | Preoperative Care | Aneurysm, Ruptured - complications | Diagnostic Imaging | Ehlers-Danlos Syndrome - complications | Diet | Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use | Turner Syndrome - genetics | Ehlers-Danlos Syndrome - diagnosis | Angiotensin Receptor Antagonists - therapeutic use | Smoking Cessation | Aortic Aneurysm, Thoracic - genetics | Life Style | Marfan Syndrome - surgery | Turner Syndrome - diagnosis | Patient Selection | Marfan Syndrome - drug therapy | Hypertension - prevention & control | Adult | Female | Stents | Aorta, Thoracic - pathology | Adrenergic beta-Antagonists - therapeutic use | Aneurysm, False - surgery | Aorta, Thoracic - abnormalities | Loeys-Dietz Syndrome - diagnosis | Marfan Syndrome - genetics | Quality Assurance, Health Care | Pregnancy | Aorta, Thoracic - surgery | Marfan Syndrome - diagnosis | Aortic Aneurysm, Thoracic - surgery | Loeys-Dietz Syndrome - genetics | Automobile Driving
Journal Article
BMC medical genetics, ISSN 1471-2350, 2018, Volume 19, Issue 1, pp. 155 - 7
Background: Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities... 
Loeys-Dietz syndrome | High throughput sequencing | Larsen syndrome | Stickler syndrome | ANOMALIES | GENETICS & HEREDITY | PHENOTYPE | MARFAN | MUTATIONS | Humans | Arthritis - diagnosis | Connective Tissue Diseases - diagnosis | Male | Hearing Loss, Sensorineural - genetics | Osteochondrodysplasias - diagnosis | Arthritis - genetics | Loeys-Dietz Syndrome - diagnosis | Mutation - genetics | Retinal Detachment - genetics | Young Adult | Hearing Loss, Sensorineural - diagnosis | Osteochondrodysplasias - genetics | Retinal Detachment - diagnosis | Adult | Connective Tissue Diseases - genetics | Loeys-Dietz Syndrome - genetics | Case studies | Gene mutations | Genetic research | Bone morphogenetic proteins | Genetic aspects | Transforming growth factors | Health aspects | Larsen's syndrome | Hernia | Eye | Medical research | Genetic disorders | Medical examination | Collagen | Medicine, Experimental | Aneurysms | Knee | Pediatrics | Kyphosis | Nonsense mutation | Genomics | Genes | Transforming growth factor-b | Aneurysm | Kinases | Arteries | Signal transduction | Missense mutation | Next-generation sequencing | Scoliosis | Surgery | Genetic analysis | Aorta | Differential diagnosis | Arthro-ophthalmopathy | Osteochondrodysplasia | Dissection | Age | Congenital diseases | Hearing impairment | Patients | Hereditary diseases | Hearing loss | Hearing aids | Mutation | Astigmatism
Journal Article
REVISTA ESPANOLA 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... 
DIAGNOSIS | CARDIAC & CARDIOVASCULAR SYSTEMS | MANAGEMENT | POSITION STATEMENT | GUIDELINES | Sudden cardiac death | EUROPEAN-SOCIETY | Marfan syndrome | Channelopathies | HYPERTROPHIC CARDIOMYOPATHY | EXPERT CONSENSUS STATEMENT | ESC | Cardiomyopathies | CARDIOLOGY WORKING GROUP | 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
Journal Article
Nature communications, ISSN 2041-1723, 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... 
DECORIN | CHROMATIN STATES | POLYMORPHISMS | RISK-FACTOR | MULTIDISCIPLINARY SCIENCES | MOUSE | GENE-EXPRESSION | MUTATIONS | HERITABILITY | LUMICAN | KERATOCONUS | 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
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 132, Issue 2, pp. 378 - 386
Journal Article