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The American Journal of Human Genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 266 - 274
Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities,... 
OPEN-ANGLE GLAUCOMA | ACTIVATION | RNA | GENE | GENETICS & HEREDITY | CALCIFICATION | SENSOR | SPECTRUM | IDENTIFICATION | GAIN | MDA5 | Odontodysplasia - pathology | Humans | Vascular Calcification - genetics | Child, Preschool | Molecular Sequence Data | Male | Metacarpus - abnormalities | Mutation, Missense - genetics | Base Sequence | Adult | Female | Osteoporosis - genetics | Odontodysplasia - diagnostic imaging | DEAD-box RNA Helicases - chemistry | Aortic Diseases - pathology | DEAD Box Protein 58 | Musculoskeletal Abnormalities - diagnostic imaging | Cells, Cultured | Models, Molecular | Muscular Diseases - pathology | Vascular Calcification - pathology | Sequence Analysis, DNA | Radiography | DEAD-box RNA Helicases - genetics | Aortic Diseases - genetics | Exome - genetics | Osteoporosis - pathology | Pedigree | Musculoskeletal Abnormalities - genetics | Metacarpus - pathology | Polymorphism, Single Nucleotide - genetics | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - pathology | Glaucoma - genetics | Dental Enamel Hypoplasia - genetics | Genes, Dominant - genetics | Physiological aspects | Genetic research | Genetic disorders | Research | Gene mutations | Glaucoma | Psoriasis | RNA-protein interactions | ABC transporters | Mutation | Gene expression | Index Medicus | Report
Journal Article
by Hysi, Pirro G and Cheng, Ching-Yu and Springelkamp, Henriët and Macgregor, Stuart and Bailey, Jessica N. Cooke and Wojciechowski, Robert and Vitart, Veronique and Nag, Abhishek and Hewitt, Alex W and Höhn, René and Venturini, Cristina and Mirshahi, Alireza and Ramdas, Wishal D and Thorleifsson, Gudmar and Vithana, Eranga and Khor, Chiea-Chuen and Stefansson, Arni B and Liao, Jiemin and Haines, Jonathan L and Amin, Najaf and Wang, Ya Xing and Wild, Philipp S and Ozel, Ayse B and Li, Jun Z and Fleck, Brian W and Zeller, Tanja and Staffieri, Sana E and teo, Yik-Ying and Cuellar-Partida, Gabriel and Luo, Xiaoyan and Allingham, R. Rand and Richards, Julia E and Senft, Anea and Karssen, Lennart C and Zheng, Yingfeng and Bellenguez, Céline and Xu, Liang and Iglesias, Aiana I and Wilson, James F and Kang, Jae H and van Leeuwen, Elisabeth M and Jonsson, Vesteinn and Thorsteinsdottir, Unnur and Despriet, Dominiek D. G and Ennis, Sarah and Moroi, Sayoko E and Martin, Nicholas G and Jansonius, Nomdo M and Yazar, Seyhan and Tai, E.-Shyong and Amouyel, Philippe and Kirwan, James and van Koolwijk, Leonieke M. E and Hauser, Michael A and Jonasson, Fridbert and Leo, Paul and Loomis, Stephanie J and Fogarty, Rhys and Rivadeneira, Fernando and Kearns, Lisa and Lackner, Karl J and de Jong, Paulus T. V. M and Simpson, Claire L and Pennell, Craig E and Oostra, Ben A and Uitterlinden, Ané G and Saw, Seang-Mei and Lotery, Anew J and Bailey-Wilson, Joan E and Hofman, Albert and Vingerling, Johannes R and Maubaret, Cécilia and Pfeiffer, Norbert and Wolfs, Roger C. W and Lemij, Hans G and Young, Terri L and Pasquale, Louis R and Delcourt, Cécile and Spector, Timothy D and Klaver, Caroline C. W and Small, Kerrin S and Burdon, Kathryn P and Stefansson, Kari and Wong, Tien-Yin and Viswanathan, Ananth and Mackey, David A and Craig, Jamie E and Wiggs, Janey L and van Duijn, Cornelia M and Hammond, Christopher J and Aung, Tin and NEIGHBORHOOD Consortium and BMES GWAS Grp and Wellcome Trust Case Control Conso and Wellcome Trust Case Control Consortium 2 and BMES GWAS Group
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1126 - 1130
Journal Article
PLoS Genetics, ISSN 1553-7390, 02/2011, Volume 7, Issue 2, pp. e1001306 - e1001306
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2016, Volume 11, Issue 4, pp. e0153757 - e0153757
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
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2014, Volume 111, Issue 30, pp. 11181 - 11186
Acute glaucoma is a sight-threatening condition characterized by a sudden and substantial rise in intraocular pressure (IOP) and consequent retinal ganglion... 
Glaucoma | Reperfusion | Messenger RNA | Ischemia | Toll like receptors | Central nervous system | Retina | Brain damage | Intraocular pressure | Microglia | Retinal ischemia/reperfusion injury | Cell apoptosis | BRAIN-INJURY | MICROGLIA ACTIVATION | INTERLEUKIN-1-BETA | MULTIDISCIPLINARY SCIENCES | REPERFUSION INJURY | POPULATIONS | retinal ischemia/reperfusion injury | ANGLE-CLOSURE GLAUCOMA | cell apoptosis | TOLL-LIKE RECEPTORS | CENTRAL-NERVOUS-SYSTEM | MICE | CEREBRAL-ISCHEMIA | Inflammasomes - metabolism | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Caspase 8 - metabolism | Caspase 1 - metabolism | Interleukin-1beta - genetics | Caspase 8 - genetics | Interleukin-1beta - metabolism | Apoptosis Regulatory Proteins - genetics | Eye Proteins - genetics | Glaucoma - metabolism | Disease Models, Animal | Acute Disease | Rats | Toll-Like Receptor 4 - genetics | Receptors, Cytoplasmic and Nuclear - genetics | Nerve Tissue Proteins - genetics | Rats, Sprague-Dawley | Toll-Like Receptor 4 - metabolism | Inflammasomes - genetics | Apoptosis Regulatory Proteins - metabolism | Mice, Knockout | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Eye Proteins - metabolism | Caspase 1 - genetics | Adaptor Proteins, Signal Transducing - genetics | Mice | Adaptor Proteins, Signal Transducing - metabolism | Enzyme Activation - genetics | Glaucoma - genetics | Receptors, Cytoplasmic and Nuclear - metabolism | Index Medicus | Biological Sciences | reperfusion injury | retinal ischemia
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, pp. 631 - 639
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2014, Volume 9, Issue 8, pp. e104163 - e104163
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a... 
CHROMOSOME | POPULATION | MENTAL-RETARDATION SYNDROME | MULTIDISCIPLINARY SCIENCES | BUPHTHALMOS | LTBP2 | DIFFERENTIATION | HYPOGONADISM | PRIMARY CONGENITAL GLAUCOMA | GENOME-WIDE ASSOCIATION | CUL4B GENE | Corneal Diseases - diagnostic imaging | Megalencephaly - diagnostic imaging | Humans | Middle Aged | Child, Preschool | Intellectual Disability - complications | Male | Intellectual Disability - genetics | Young Adult | Corneal Diseases - genetics | Genes, X-Linked | Ultrasonography | Adult | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Cerebral Palsy - diagnostic imaging | Megalencephaly - genetics | Muscle Hypotonia - complications | Genetic Predisposition to Disease | Eye Diseases, Hereditary - diagnostic imaging | Muscle Hypotonia - genetics | Genetic Association Studies | Intellectual Disability - diagnostic imaging | Mutation - genetics | Glaucoma - congenital | Nerve Tissue Proteins - genetics | Epilepsy - complications | Eye Diseases, Hereditary - genetics | Exome - genetics | Phenotype | Pedigree | Adolescent | Family | Glaucoma - genetics | Cerebral Palsy - genetics | Corneal Pachymetry | Glaucoma | Phenotypes | Cornea | Intellectual disabilities | Health risks | Genomes | Single-nucleotide polymorphism | Epidemiology | Loci | Eye | Proteins | Missense mutation | Etiology | Diagnostic software | Genetics | Diagnostic systems | Mutation | Bioinformatics | Chromosomes | Polymorphism | Index Medicus
Journal Article
by Lu, Yi and Vitart, Veronique and Burdon, Kathryn P and Khor, Chiea Chuen and Bykhovskaya, Yelena and Mirshahi, Alireza and Hewitt, Alex W and Koehn, Demelza and Hysi, Pirro G and Ramdas, Wishal D and Zeller, Tanja and Vithana, Eranga N and Cornes, Belinda K and Tay, Wan-Ting and Tai, E. Shyong and Cheng, Ching-Yu and Liu, Jianjun and Foo, Jia-Nee and Saw, Seang Mei and Thorleifsson, Gudmar and Stefansson, Kari and Dimasi, David P and Mills, Richard A and Mountain, Jenny and Ang, Wei and Hoehn, René and Verhoeven, Virginie J. M and Grus, Franz and Wolfs, Roger and Castagne, Raphaële and Lackner, Karl J and Springelkamp, Henriët and Yang, Jian and Jonasson, Fridbert and Leung, Dexter Y. L and Chen, Li J and Tham, Clement C. Y and Rudan, Igor and Vatavuk, Zoran and Hayward, Caroline and Gibson, Jane and Cree, Angela J and MacLeod, Alex and Ennis, Sarah and Polasek, Ozren and Campbell, Harry and Wilson, James F and Viswanathan, Ananth C and Fleck, Brian and Li, Xiaohui and Siscovick, David and Taylor, Kent D and Rotter, Jerome I and Yazar, Seyhan and Ulmer, Megan and Li, Jun and Yaspan, Brian L and Ozel, Ayse B and Richards, Julia E and Moroi, Sayoko E and Haines, Jonathan L and Kang, Jae H and Pasquale, Louis R and Allingham, R Rand and Ashley-Koch, Allison and Mitchell, Paul and Wang, Jie Jin and Wright, Alan F and Pennell, Craig and Spector, Timothy D and Young, Terri L and Klaver, Caroline C.W and Martin, Nicholas G and Montgomery, Grant W and Anderson, Michael G and Aung, Tin and Willoughby, Colin E and Wiggs, Janey L and Pang, Chi P and Thorsteinsdottir, Unnur and Lotery, Andrew J and Hammond, Christopher J and Van Duijn, Cornelia M and Hauser, Michael A and Rabinowitz, Yaron S and Pfeiffer, Norbert and MacKey, David A and Craig, Jamie E and MacGregor, Stuart and Wong, Tien Y and NEIGHBOR Consortium
Nature Genetics, ISSN 1061-4036, 02/2013, Volume 45, Issue 2, pp. 155 - 163
Journal Article