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American journal of medical genetics. Part C, Seminars in medical genetics, ISSN 1552-4868, 2017, Volume 175, Issue 1, pp. 8 - 26
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
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1005 - 1014
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 | FAMILIAL CEREBRAL ANEURYSMS | POLYCYSTIC KIDNEY-DISEASE | GENETICS & HEREDITY | SUBARACHNOID HEMORRHAGE | CAROTID-ARTERY ANEURYSM | NEUROFIBROMATOSIS TYPE-1 | EHLERS-DANLOS-SYNDROME | SYNDROME TYPE-IV | GENOME-WIDE ASSOCIATION | MARFANS-SYNDROME | 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 | Review Paper
Journal Article
American Journal of Medicine, The, ISSN 0002-9343, 2013, Volume 126, Issue 8, pp. 670 - 678
... genetic penetrance and phenotypic expression. Aortic root and ascending aortic dimensions should be measured routinely with echocardiography... 
Internal Medicine | Bentall composite graft | Ghent diagnostic criteria | Loeys-Dietz syndrome | MASS phenotype | Familial thoracic aneurysm | Bicuspid aortic valve | Aortopathy | Marfan syndrome | SLEEP-APNEA | ROOT DILATION | NATURAL-HISTORY | CHILDREN | BETA | MEDICINE, GENERAL & INTERNAL | DISSECTION | MARFAN-SYNDROME | BICUSPID AORTIC-VALVE | FBN1 MUTATIONS | ANEURYSM | Aortic Aneurysm, Thoracic - genetics | Prognosis | Skin Diseases - genetics | Aortic Aneurysm - diagnosis | Aortic Valve - abnormalities | Humans | Aortic Aneurysm - therapy | Livedo Reticularis - therapy | Contracture - genetics | Mitral Valve Prolapse - genetics | Actins - genetics | Marfan Syndrome - therapy | Arachnodactyly - diagnosis | Actins - deficiency | Skin Diseases - diagnosis | Ehlers-Danlos Syndrome - genetics | Livedo Reticularis - diagnosis | Mitral Valve Prolapse - diagnosis | Ductus Arteriosus, Patent - diagnosis | Aortic Aneurysm, Thoracic - diagnosis | Arachnodactyly - genetics | Myopia - diagnosis | Heart Valve Diseases - diagnosis | Myopia - therapy | Livedo Reticularis - genetics | Diagnosis, Differential | Ductus Arteriosus, Patent - genetics | Skin Diseases - therapy | Echocardiography | Contracture - therapy | Ehlers-Danlos Syndrome - therapy | Loeys-Dietz Syndrome - diagnosis | Mitral Valve Prolapse - therapy | Marfan Syndrome - genetics | Ductus Arteriosus, Patent - therapy | Myopia - genetics | Loeys-Dietz Syndrome - therapy | Contracture - diagnosis | Heart Valve Diseases - genetics | Iris - abnormalities | Marfan Syndrome - diagnosis | Aortic Aneurysm, Thoracic - therapy | Arachnodactyly - therapy | Heart Valve Diseases - therapy | Loeys-Dietz Syndrome - genetics | Ehlers-Danlos Syndrome - diagnosis | Aortic Aneurysm - genetics
Journal Article