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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
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
The American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 79, Issue 3, pp. 544 - 548
Journal Article
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
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 247 - 259
X-linked megalocornea (MGC1) is an ocular anterior segment disorder characterized by an increased cornea diameter and deep anterior chamber evident at birth... 
EYE | WATER DIFFUSION | BONE MORPHOGENETIC PROTEIN | ACQUISITION | GENETICS & HEREDITY | BIOMETRY | UPDATE | ISCEV STANDARD | CHORDIN | LINKAGE | BRAIN | Anterior Eye Segment - embryology | Cerebral Palsy - metabolism | Humans | Middle Aged | Eye Abnormalities - embryology | Genetic Diseases, X-Linked - complications | Molecular Sequence Data | Corneal Diseases - metabolism | Male | Retina - embryology | Anterior Eye Segment - abnormalities | Intellectual Disability - genetics | Intellectual Disability - metabolism | Young Adult | Corneal Diseases - genetics | Genes, X-Linked | Base Sequence | Nerve Tissue Proteins - biosynthesis | Adult | Female | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Megalencephaly - genetics | DNA Copy Number Variations - genetics | Megalencephaly - metabolism | Genetic Diseases, X-Linked - metabolism | Eye Abnormalities - genetics | Nerve Tissue Proteins - genetics | Genetic Diseases, X-Linked - embryology | Phenotype | Pedigree | Retina - abnormalities | Brain - pathology | Cornea - abnormalities | Mutation | Quantitative Trait Loci | Cerebral Palsy - genetics | Eye Abnormalities - complications | Eye Proteins - biosynthesis | Brain | Gene mutations | Genetic variation | Physiological aspects | Causes of | Corneal diseases | Retina | Genetic aspects | Research | Ophthalmology | Proteins | Cornea | Genetic disorders | Morphology | Cognitive ability | Genetic research | Gene expression | Index Medicus
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Journal Article
Journal Article