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1. Full Text Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria
by Fares-Taie, Lucas and Gerber, Sylvie and Tawara, Akihiko and Ramirez-Miranda, Arturo and Douet, Jean-Yves and Verdin, Hannah and Guilloux, Antoine and Zenteno, Juan C and Kondo, Hiroyuki and Moisset, Hugo and Passet, Bruno and Yamamoto, Ken and Iwai, Masaru and Tanaka, Toshihiro and Nakamura, Yusuke and Kimura, Wataru and Bole-Feysot, Christine and Vilotte, Marthe and Odent, Sylvie and Vilotte, Jean-Luc and Munnich, Arnold and Regnier, Alain and Chassaing, Nicolas and De Baere, Elfride and Raymond-Letron, Isabelle and Kaplan, Josseline and Calvas, Patrick and Roche, Olivier and Rozet, Jean-Michel
American journal of human genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, pp. 631 - 639
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Chromosomes, Human, Pair 13 - genetics | Oligonucleotide Array Sequence Analysis | Humans | Receptors, G-Protein-Coupled | Molecular Sequence Data | Mutation - genetics | Pupil Disorders - pathology | Sequence Analysis, DNA | Pupil Disorders - genetics | Comparative Genomic Hybridization | Pedigree | Base Sequence | Gene Components | Hydro-Lyases - genetics | Genes, Dominant - genetics | Pupil Disorders - congenital | Receptors, Cell Surface - genetics | Causes of | Genetic disorders | Gene mutations | Identification and classification | Glaucoma | Proteins | Genotype & phenotype | Congenital diseases | Genomics | Genetics | Gene expression | Index Medicus | Mutation/genetics | Chromosomes, Human, Pair 13/genetics | Pupil Disorders/congenital | Pupil Disorders/pathology | Pupil Disorders/genetics | Hydro-Lyases/genetics | Life Sciences | Receptors, Cell Surface/genetics | DNA | Sequence Analysis | Genes, Dominant/genetics | Report
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2. Full Text Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome
by Jang, Mi-Ae and Kim, Eun Kyoung and Now, Hesung and Nguyen, Nhung T.H and Kim, Woo-Jong and Yoo, Joo-Yeon and Lee, Jinhyuk and Jeong, Yun-Mi and Kim, Cheol-Hee and Kim, Ok-Hwa and Sohn, Seongsoo and Nam, Seong-Hyeuk and Hong, Yoojin and Lee, Yong Seok and Chang, Sung-A and Jang, Shin Yi and Kim, Jong-Won and Lee, Myung-Shik and Lim, So Young and Sung, Ki-Sun and Park, Ki-Tae and Kim, Byoung Joon and Lee, Joo-Heung and Kim, Duk-Kyung and Kee, Changwon and Ki, Chang-Seok
American journal of human genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 266 - 274
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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
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3. Full Text Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma
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
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Meta-Analysis as Topic | Glaucoma, Open-Angle - genetics | Humans | Middle Aged | Genetic Loci - genetics | Male | Young Adult | Chromosomes, Human, Pair 9 - genetics | Intraocular Pressure - genetics | ABO Blood-Group System - genetics | Aged, 80 and over | Adult | Female | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Risk Factors | Genotype | Chromosomes, Human, Pair 11 - genetics | Aged | Fibronectins - genetics | Polymorphism, Single Nucleotide | Glaucoma - genetics | Chromosomes, Human, Pair 3 - genetics | ATP Binding Cassette Transporter 1 - genetics | Cohort Studies | Glaucoma | Quantitative trait loci | Genome-wide association studies | Genetic aspects | Health aspects | Identification and classification | Risk factors | Intraocular pressure | Studies | Genomes | Genealogy | Chromosomes | Meta-analysis | Index Medicus
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4. Full Text Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
by Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and Höhn, René and Springelkamp, Henriët and Cuellar-Partida, Gabriel and Willoughby, Colin E and Yazar, Seyhan and Nag, Abhishek and Polašek, Ozren and Tham, Yih Chung and Kearns, Lisa S and Shi, Yuan and Taylor, Kent D and Wang, Jie Jin and Attia, John and Holliday, Elizabeth G and Baird, Paul N and Xie, Jing and Inouye, Michael and Sim, Xueling and Bonnemaijer, Pieter and Rotter, Jerome I and Zeller, Tanja and Mills, Richard A and Staffieri, Sana E and Jonas, Jost B and Schmidtmann, Irene and Boutin, Thibaud and Lucas, Sionne E. M and Wong, Tien Yin and Beutel, Manfred E and Wilson, James F and Budenz, Donald L and Christen, William G and Fingert, John and Gaasterland, Douglas and Gaasterland, Terry and Hauser, Michael A and Lichter, Paul R and Liu, Yutao and Loomis, Stephanie J and Realini, Anthony and Richards, Julia E and Schuman, Joel S and Singh, Kuldev and Vollrath, Douglas and Wollstein, Gadi and Donnelly, Peter and Barroso, Ines and Bramon, Elvira and Brown, Matthew A and Casas, Juan P and Corvin, Aiden and Deloukas, Panos and Duncanson, Auey and Jankowski, Janusz and Mathew, Christopher G and Palmer, Colin N. A and Sawcer, Stephen J and Wood, Nicholas W and Spencer, Chris C. A and Band, Gavin and Bellenguez, C. line and Hellenthal, Garrett and Giannoulatou, Eleni and Pirinen, Matti and Pearson, Richard and Strange, Amy and Su, Zhan and Vukcevic, Damjan and Langford, Cordelia and Hunt, Sarah E and Edkins, Sarah and Gwilliam, Rhian and Blackburn, Hannah and Bumpstead, Suzannah J and Hammond, Naomi and Jayakumar, Alagurevathi and McCann, Owen T and Liddle, Jennifer and Potter, Simon C and Ravinarajah, Radhi and Ricketts, Michelle and Waller, Matthew and Widaa, Sara and Whittaker, Pamela and Uitterlinden, Ané G and Vithana, Eranga N and Hewitt, Alex W and Khor, Chiea Chuen and Klaver, Caroline C. W and Aung, Tin and Pfeiffer, Norbert and MacKey, David A and Cheng, Ching-Yu and Rabinowitz, Yaron S and Wiggs, Janey L and Burdon, Kathryn P and MacGregor, Stuart 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, 2018, Volume 9, Issue 1, pp. 1864 - 11
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | 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 | Index Medicus
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5. Full Text Congenital glaucoma and CYP1B1: an old story revisited
by Alsaif, Hessa S and Alsaif, Hessa S and Khan, Arif O and Khan, Arif O and Patel, Nisha and Patel, Nisha and Alkuraya, Hisham and Alkuraya, Hisham and Hashem, Mais and Hashem, Mais and Abdulwahab, Firdous and Abdulwahab, Firdous and Ibrahim, Niema and Ibrahim, Niema and Aldahmesh, Mohammed A and Aldahmesh, Mohammed A and Alkuraya, Fowzan S and Alkuraya, Fowzan S
Human genetics, ISSN 0340-6717, 9/2019, Volume 138, Issue 8, pp. 1043 - 1049
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Glycoproteins - genetics | Cytochrome P-450 CYP1B1 - genetics | Cytoskeletal Proteins - genetics | Humans | alpha-Macroglobulins - genetics | Male | Penetrance | DNA Mutational Analysis - methods | Mutation - genetics | Genetic Testing - methods | Receptor, TIE-2 - genetics | Latent TGF-beta Binding Proteins - genetics | Phenotype | Intraocular Pressure - genetics | Pedigree | Alleles | Female | Eye Proteins - genetics | Glaucoma - genetics | Anion Transport Proteins - genetics | Cohort Studies | Ethylenediaminetetraacetic acid | Genetic disorders | Glaucoma in children | Analysis | Cytochrome P-450 | Genetic aspects | Disease susceptibility | Health aspects | Epidemiology | Glaucoma | Congenital diseases | Genetic analysis | Population studies | Mutation | Population genetics | Index Medicus
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6. Full Text Genetics of glaucoma
by Wiggs, Janey L and Pasquale, Louis R
Human molecular genetics, ISSN 0964-6906, 08/2017, Volume 26, Issue 1, pp. R21 - R27
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease | Genome-Wide Association Study | Genetic Testing | Glaucoma, Open-Angle - genetics | Intraocular Pressure | Humans | Risk Factors | Asymptomatic Diseases | Glaucoma - diagnosis | Eye Proteins - genetics | Glaucoma - metabolism | Mutation | Glaucoma - genetics | Index Medicus | Invited Reviews
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7. Full Text Reprogramming to recover youthful epigenetic information and restore vision
by Lu, Yuancheng and Brommer, Benedikt and Tian, Xiao and Krishnan, Anitha and Meer, Margarita and Wang, Chen and Vera, Daniel L and Zeng, Qiurui and Yu, Doudou and Bonkowski, Michael S and Yang, Jae-Hyun and Zhou, Songlin and Hoffmann, Emma M and Karg, Margarete M and Schultz, Michael B and Kane, Alice E and Davidsohn, Noah and Korobkina, Ekaterina and Chwalek, Karolina and Rajman, Luis A and Church, George M and Hochedlinger, Konrad and Gladyshev, Vadim N and Horvath, Steve and Levine, Morgan E and Gregory-Ksander, Meredith S and Ksander, Bruce R and He, Zhigang and Sinclair, David A
Nature (London), ISSN 0028-0836, 12/2020, Volume 588, Issue 7836, pp. 124 - 129
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Dependovirus - genetics | Eye - pathology | Epigenesis, Genetic | Humans | Axons - physiology | Octamer Transcription Factor-3 - genetics | Retinal Ganglion Cells - cytology | Vision, Ocular - physiology | DNA Methylation | Aging - genetics | SOXB1 Transcription Factors - genetics | Eye - innervation | Female | Cellular Reprogramming - genetics | Disease Models, Animal | Nerve Regeneration - genetics | Cell Survival | Mice, Inbred C57BL | Eye - cytology | Proto-Oncogene Proteins - genetics | Transcriptome - genetics | DNA-Binding Proteins - genetics | Genetic Vectors - genetics | Optic Nerve Injuries - genetics | Vision, Ocular - genetics | Animals | Aging - physiology | Cell Line, Tumor | Glaucoma - pathology | Mice | Glaucoma - genetics | Kruppel-Like Transcription Factors - genetics | Glaucoma | Oct-4 protein | Central nervous system | Gene expression | Tissues | Regeneration | Retinal ganglion cells | KLF4 protein | Vision | DNA methylation | Epigenetics | Aging | Methylation | Deoxyribonucleic acid--DNA | Index Medicus
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8. Full Text A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma
by Osman, Wael and Low, Siew-Kee and Takahashi, Atsushi and Kubo, Michiaki and Nakamura, Yusuke
Human molecular genetics, ISSN 0964-6906, 06/2012, Volume 21, Issue 12, pp. 2836 - 2842
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Glaucoma and intraocular pressure | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Ophthalmology | Methods, theories and miscellaneous | Glaucoma, Open-Angle - genetics | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Male | Case-Control Studies | Glaucoma, Open-Angle - ethnology | Chromosomes, Human, Pair 9 - genetics | Cyclin-Dependent Kinase Inhibitor p15 - genetics | Trans-Activators - genetics | Aged, 80 and over | Adult | Female | Principal Component Analysis | Genetic Predisposition to Disease - genetics | Gene Frequency | Japan | Risk Factors | Cyclin-Dependent Kinase Inhibitor p16 - genetics | Genotype | Homeodomain Proteins - genetics | Alleles | Genetic Predisposition to Disease - ethnology | Aged | Polymorphism, Single Nucleotide | Genome-Wide Association Study - methods | Chromosomes, Human, Pair 14 - genetics | Index Medicus | Eye | Glaucoma | Linkage disequilibrium | chromosome 2 | Blindness | Development | Retina | Single-nucleotide polymorphism | chromosome 14 | chromosome 9
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