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JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 01/2014, Volume 124, Issue 1, pp. 448 - 460
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2435 - 2439
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder, caused by heterozygous mutations in TGFBR1 or TGFBR2 and characterized by... 
reversible cerebral vasoconstriction syndrome (RCVS) | posterior reversible encephalopathy syndrome (PRES) | Loeys‐Dietz syndrome (LDS) | endothelial dysfunction | Endothelial dysfunction | Reversible cerebral vasoconstriction syndrome (RCVS) | Loeys-Dietz syndrome (LDS) | Posterior reversible encephalopathy syndrome (PRES) | AORTIC-ANEURYSMS | IMPAIRMENT | MOUSE MODEL | GENETICS & HEREDITY | PATIENT | MUTATIONS | DYSFUNCTION | SPECTRUM | ARTERY DISSECTION | Aneurysm, Dissecting - genetics | Receptors, Transforming Growth Factor beta - genetics | Posterior Leukoencephalopathy Syndrome - genetics | Receptors, Transforming Growth Factor beta - blood | Humans | Male | Protein-Serine-Threonine Kinases - blood | Aneurysm, Dissecting - blood | Child | Subarachnoid Hemorrhage - blood | Gene Expression | Signal Transduction | Protein-Serine-Threonine Kinases - genetics | Vasoconstriction | Posterior Leukoencephalopathy Syndrome - blood | Aneurysm, Dissecting - pathology | Subarachnoid Hemorrhage - genetics | Subarachnoid Hemorrhage - pathology | Loeys-Dietz Syndrome - pathology | Cerebral Arteries - metabolism | Cerebral Arteries - pathology | Heterozygote | Loeys-Dietz Syndrome - blood | Loeys-Dietz Syndrome - genetics | Posterior Leukoencephalopathy Syndrome - pathology | Mutation | Encephalopathy | Headache | Craniosynostosis | Aneurysm | Aneurysms | Headaches | Carotid arteries | Arteries | Clubfoot | Computed tomography | Aorta | Carotid artery | Seizures | Edema | Camptodactyly | Subarachnoid hemorrhage | Cortex | Thorax | Substantia alba | Hereditary diseases | Magnetic resonance imaging | Neurological complications | Vision | Veins & arteries | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 05/2018, Volume 9, Issue 1, p. 1864
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide... 
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 | Cornea | Decorin | Corneal Dystrophies, Hereditary | Myopia | Corneal Diseases | Marfan Syndrome | Keratoconus | ADAMTS Proteins | Lumican | Transforming Growth Factor beta2 | Ehlers-Danlos Syndrome | Glaucoma, Open-Angle | Fibrillin-1 | Eye Diseases, Hereditary | Proteoglycans | Wellcome Trust Case Control Consortium 2 (WTCCC2) | Blue Mountains Eye Study—GWAS group | Loeys-Dietz Syndrome | NEIGHBORHOOD Consortium
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 11, pp. 1249 - 1254
Journal Article
Revista Española de Cardiología (English Edition), ISSN 1885-5857, 03/2016, Volume 69, Issue 3, pp. 300 - 309
The term inherited cardiovascular disease encompasses a group of cardiovascular diseases (cardiomyopathies, channelopathies, certain aortic diseases, and other... 
Channelopathies | Muerte súbita | Canalopatías | Síndrome de Marfan | Miocardiopatías | Cardiomyopathies | Sudden cardiac death | Marfan syndrome | PERICARDIAL DISEASES | DIAGNOSIS | CARDIAC & CARDIOVASCULAR SYSTEMS | 2014 ESC GUIDELINES | HUMAN-GENETICS | POSITION STATEMENT | EUROPEAN-SOCIETY | HYPERTROPHIC CARDIOMYOPATHY | EXPERT CONSENSUS STATEMENT | 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 | Index Medicus
Journal Article
by Iglesias, Adriana I and Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and Höhn, René and Springelkamp, Henriët and Cuellar-Partida, Gabriel and Gharahkhani, Puya and Bailey, Jessica N. Cooke and Willoughby, Colin E and Li, Xiaohui and Yazar, Seyhan and Nag, Abhishek and Khawaja, Anthony P and Polašek, Ozren and Siscovick, David and Mitchell, Paul and Tham, Yih Chung and Haines, Jonathan L and Kearns, Lisa S and Hayward, Caroline and Shi, Yuan and Van Leeuwen, Elisabeth M and Taylor, Kent D and Wang, Jie Jin and Rochtchina, Elena and Attia, John and Scott, Rodney and Holliday, Elizabeth G and Baird, Paul N and Xie, Jing and Inouye, Michael and Viswanathan, Ananth and Sim, Xueling and Bonnemaijer, Pieter and Rotter, Jerome I and Martin, Nicholas G and Zeller, Tanja and Mills, Richard A and Staffieri, Sandra E and Jonas, Jost B and Schmidtmann, Irene and Boutin, Thibaud and Kang, Jae H and Lucas, Sionne E. M and Wong, Tien Yin and Beutel, Manfred E and Wilson, James F and Allingham, R. Rand and Brilliant, Murray H and Budenz, Donald L and Christen, William G and Fingert, John and Friedman, David S and Gaasterland, Douglas and Gaasterland, Terry and Hauser, Michael A and Kraft, Peter and Lee, Richard K and Lichter, Paul R and Liu, Yutao and Loomis, Stephanie J and Moroi, Sayoko E and Pericak-Vance, Margaret A and Realini, Anthony and Richards, Julia E and Schuman, Joel S and Scott, William K and Singh, Kuldev and Sit, Arthur J and Vollrath, Douglas and Weinreb, Robert N and Wollstein, Gadi and Zack, Donald J and Zhang, Kang and Donnelly, Peter and Barroso, Ines and Blackwell, Jenefer M and Bramon, Elvira and Brown, Matthew A and Casas, Juan P and Corvin, Aiden and Deloukas, Panos and Duncanson, Audrey and Jankowski, Janusz and Markus, Hugh S and Mathew, Christopher G and Palmer, Colin N. A and Plomin, Robert and Rautanen, Anna and Sawcer, Stephen J and Trembath, Richard C and Wood, Nicholas W and Spencer, Chris C. A and Band, Gavin and Bellenguez, Céline and Freeman, Colin and Hellenthal, Garrett and Giannoulatou, Eleni and Pirinen, Matti and ... and Blue Mountains Eye Study-GWAS Grp and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consor and Blue Mountains Eye Study—GWAS group and Wellcome Trust Case Control Consortium 2 (WTCCC2)
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 11
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide... 
DECORIN | CHROMATIN STATES | POLYMORPHISMS | RISK-FACTOR | MULTIDISCIPLINARY SCIENCES | MOUSE | GENE-EXPRESSION | MUTATIONS | HERITABILITY | LUMICAN | KERATOCONUS | Glaucoma | Cornea | Genes | Myopia | Association analysis | Genomes | Gene expression | Tissues | Connective tissues | Keratoconus | Collagen | Eye diseases | Extracellular matrix | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2013, Volume 161, Issue 8, pp. 2040 - 2046
Journal Article
Neurology India, ISSN 0028-3886, 09/2016, Volume 64, Issue 5, pp. 1087 - 1088
Journal Article