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المؤلفون: Janey L. Wiggs, C.M. vanDuijn, Vincent Laville, Adriana I Iglesias, Daniel I. Chasman, Bernard Rosner, Jessica N. Cooke Bailey, James F. Wilson, Michael A. Hauser, Jae H. Kang, William G. Christen, Christopher J Hammond, Hugues Aschard, Puya Gharahkhani, John H. Fingert, Alex W. Hewitt, Stuart MacGregor, Frank B. Hu, Peter Kraft, Louis R. Pasquale, Robert P. Igo, Yeunjoo E. Song, David A. Mackey, Pirro G. Hysi, Jonathan L. Haines, UK Biobank, Anthony P Khawaja, Clara C. Cousins, Reka Nagy, Veronique Vitart
المساهمون: Département de Biologie Computationnelle - Department of Computational Biology, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Brigham & Women’s Hospital [Boston] (BWH), Harvard Medical School [Boston] (HMS), Erasmus University Medical Center [Rotterdam] (Erasmus MC), University of Edinburgh, Case Western Reserve University [Cleveland], Harvard T.H. Chan School of Public Health, QIMR Berghofer Medical Research Institute, University of Melbourne, University of Tasmania [Hobart, Australia] (UTAS), The University of Western Australia (UWA), King‘s College London, University of Oxford [Oxford], University of Iowa [Iowa City], Duke University [Durham], University of Cambridge [UK] (CAM), Icahn School of Medicine at Mount Sinai [New York] (MSSM), The Orkney Complex Disease Study was supported by the Chief Scientist Office of the Scottish Government (CZB/4/276, CZB/4/710), a Royal Society URF to Dr Wilson, the MRC Human Genetics Unit quinquennial programme 'QTL in Health and Disease,' Arthritis Research UK, and the European Union framework program 6 EUROSPAN project (contract no. LSHG-CT-2006-018947)., The Viking Health Study – Shetland (VIKING) was supported by the MRC Human Genetics Unit quinquennial programme grant 'QTL in Health and Disease.', European Project: 35103,EUROSPAN, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), University of Oxford, Clinical Genetics, Ophthalmology
المصدر: American Journal of Ophthalmology
American Journal of Ophthalmology, Elsevier Masson, 2019, 206, pp.245-255. ⟨10.1016/j.ajo.2019.05.015⟩
American Journal of Ophthalmology, 2019, 206, pp.245-255. ⟨10.1016/j.ajo.2019.05.015⟩
American Journal of Ophthalmology, 206, 245-255. Elsevier Inc.
Am J Ophthalmol
Laville, V, Kang, J H, Cousins, C, Iglesias, A I, Nagy, R, Cooke Bailey, J N, Igo, R P, Song, Y E, Chasman, D I, Christen, W, Kraft, P & Wilson, J F & Vitart, V 2019, ' Genetic correlations between diabetes and glaucoma: an analysis of continuous and dichotomous phenotypes ', American journal of ophthalmology . https://doi.org/10.1016/j.ajo.2019.05.015Testمصطلحات موضوعية: Male, Linkage disequilibrium, genetic structures, Glaucoma, Genome-wide association study, Type 2 diabetes, 0302 clinical medicine, MESH: Aged, 80 and over, MESH: Incidence, Aged, 80 and over, 2. Zero hunger, MESH: Aged, 0303 health sciences, [STAT.AP]Statistics [stat]/Applications [stat.AP], MESH: Middle Aged, Incidence, MESH: Tonometry, Ocular, Middle Aged, Pedigree, 3. Good health, Europe, Phenotype, MESH: Young Adult, Female, [STAT.ME]Statistics [stat]/Methodology [stat.ME], Glaucoma, Open-Angle, MESH: Diabetes Mellitus, Type 2, Adult, medicine.medical_specialty, Adolescent, MESH: Pedigree, Biology, MESH: Phenotype, Genetic correlation, Article, Tonometry, Ocular, Young Adult, 03 medical and health sciences, MESH: Cross-Sectional Studies, SDG 3 - Good Health and Well-being, MESH: Intraocular Pressure, Genetic linkage, Ophthalmology, medicine, MESH: United States, Humans, Intraocular Pressure, Aged, 030304 developmental biology, MESH: Adolescent, MESH: Humans, MESH: Adult, Heritability, medicine.disease, United States, Human genetics, eye diseases, MESH: Male, Cross-Sectional Studies, Diabetes Mellitus, Type 2, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Genome-Wide Association Study, 030221 ophthalmology & optometry, MESH: Glaucoma, Open-Angle, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, sense organs, MESH: Europe, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], MESH: Female, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f37eb2ae4c5d9cebd21d3aa695a2b922Test
https://hal-pasteur.archives-ouvertes.fr/pasteur-03278624Test -
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المؤلفون: John H. Fingert, Carly J. Lewis, Edwin M. Stone, Wallace L.M. Alward, Adam P. DeLuca, Adam Hedberg-Buenz
المصدر: Human Molecular Genetics. 26:R28-R36
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, PAX6 Transcription Factor, genetic structures, CYP1B1, Glaucoma, Visual disability, Biology, 03 medical and health sciences, 0302 clinical medicine, Anterior Eye Segment, Genetics, medicine, Humans, Invited Reviews, Eye Abnormalities, Eye Proteins, Aniridia, Molecular Biology, Genetics (clinical), Homeodomain Proteins, Blindness, PITX2, Childhood blindness, Eye Diseases, Hereditary, Forkhead Transcription Factors, General Medicine, medicine.disease, eye diseases, 030104 developmental biology, Latent TGF-beta Binding Proteins, Cytochrome P-450 CYP1B1, Mutation, 030221 ophthalmology & optometry, sense organs, PAX6, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::791dd924e5a4fb73d7bedfe1621490cdTest
https://doi.org/10.1093/hmg/ddx205Test -
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المؤلفون: Kathryn P. Burdon, Marianne O. Price, Natalie A. Afshari, Simon G. Gregory, Jiagang Zhao, S. Amer Riazuddin, Sanjay V. Patel, Elmer Balajonda, Sudha K. Iyengar, Christopher R. Croasdale, Jamie E Craig, Venkateswara Mootha, Gordon K. Klintworth, Barbara Truitt, John F. Stamler, George O D Rosenwasser, Shiwani Sharma, Abraham Kuot, Jonathan H. Lass, Mollie A. Minear, Richard A. Mills, Steven P. Dunn, Sonja Klebe, Keith H. Baratz, John H. Fingert, Anthony J. Aldave, Xuejun Qin, Dwight Stambolian, V. Lakshmi Pulagam, John D. Gottsch, Joan E. Bailey-Wilson, Francis W. Price, Nathan Morris, Yi-Ju Li, Robert P. Igo, J. B. Rimmler
المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-8 (2017)
Nature Communicationsمصطلحات موضوعية: 0301 basic medicine, Science, General Physics and Astronomy, Locus (genetics), Genome-wide association study, Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Cornea, medicine, Humans, Genetics, Multidisciplinary, Fuchs' Endothelial Dystrophy, Reproducibility of Results, General Chemistry, TCF4, eye diseases, 3. Good health, Transplantation, Corneal Disorder, 030104 developmental biology, medicine.anatomical_structure, ROC Curve, Genetic Loci, 030221 ophthalmology & optometry, Etiology, sense organs, Fuchs Endothelial Corneal Dystrophy, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78aba81960472d88ac8bad9b04f110f5Test
https://doaj.org/article/d1c65f3362014583bd22c5188abefc76Test -
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المؤلفون: R. Rand Allingham, Julia E. Richards, William K. Scott, Janey L. Wiggs, Jessica N. Cooke Bailey, Robert Ritch, Michael A. Hauser, Arthur J. Sit, Joel S. Schuman, Jonathan L. Haines, Donald L. Budenz, Jae H. Kang, Margaret A. Pericak-Vance, Douglas E. Gaasterland, William G. Christen, Yutao Liu, Kang Zhang, Robert N. Weinreb, Donald J. Zack, Kuldev Singh, Felipe A. Medeiros, Terry Gaasterland, Gadi Wollstein, Douglas Vollrath, Louis R. Pasquale, Tony Realini, Richard K. Lee, Anthony P Khawaja, Murray H. Brilliant, S.E. Moroi, Paul R. Lichter, John H. Fingert, Peter Kraft
المصدر: Investigative Ophthalmology & Visual Science
Khawaja, AP; Cooke Bailey, JN; Kang, JH; Rand Allingham, R; Hauser, MA; Brilliant, M; et al.(2016). Assessing the association of mitochondrial genetic variation with primary open-angle glaucoma using gene-set analyses. Investigative Ophthalmology and Visual Science, 57(11), 5046-5052. doi: 10.1167/iovs.16-20017. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/6tq4q4qpTest
Investigative ophthalmology & visual science, vol 57, iss 11مصطلحات موضوعية: 0301 basic medicine, Genetics, genetic structures, Carbohydrate Metabolism Pathway, Lipid metabolism, Biological Sciences, Biology, Carbohydrate metabolism, Mitochondrion, Ophthalmology & Optometry, Medical and Health Sciences, eye diseases, mitochondria, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, glaucoma, Genetic variation, 030221 ophthalmology & optometry, Fatty acid elongation, genetics, sense organs, KEGG, Gene
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27ad174fa9e24c4b05e595ebdff19f71Test
http://europepmc.org/articles/PMC5040191Test -
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المصدر: Eye. 31:1250-1252
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Triplet repeat, TCF4, Biology, eye diseases, 03 medical and health sciences, Ophthalmology, 030104 developmental biology, 0302 clinical medicine, Correspondence, Anticipation (genetics), 030221 ophthalmology & optometry, medicine, sense organs, Gene, Fuchs Endothelial Corneal Dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6320c4f80b24281d93ab902aa308ebfTest
https://doi.org/10.1038/eye.2017.60Test -
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المؤلفون: David C. Whiteman, Jessica N. Cooke Bailey, William K. Scott, Michael Coote, Ivan Goldberg, Mark J Walland, David J. Lynn, Paul R. Healey, Paul Mitchell, John Landers, Terry Gaasterland, Kathryn P. Burdon, Arthur J. Sit, Jonathan B Ruddle, Nicholas G. Martin, Douglas Vollrath, R. Rand Allingham, Richard K. Lee, Julia E. Richards, Yutao Liu, David A. Mackey, Kuldev Singh, Mitchell Lawlor, Doug Rhee, Stuart MacGregor, Jamie E Craig, Robert Ritch, Graham L. Radford-Smith, Donald L. Budenz, Murray H. Brilliant, Robert P. Igo, John R. Grigg, Robert J Casson, Janey L. Wiggs, Bronwyn Ridge, Stuart L. Graham, Stephen Best, Louis R. Pasquale, S.E. Moroi, Peter Kraft, Anthony Realini, Lisa A Hark, Mona S Awadalla, Gadi Wollstein, Jesse Gale, Donald J. Zack, Owen M. Siggs, Puya Gharahkhani, Andrea L Vincent, Tiger Zhou, Alex W. Hewitt, Emmanuelle Souzeau, Margaret A. Pericak-Vance, Michael A. Hauser, Shiwani Sharma, John H. Fingert, Andrew White, Grant W. Montgomery, Douglas E. Gaasterland, Paul R. Lichter, Richard A. Mills, Joel S. Schuman, Jae H. Kang, Matthew Law, Jonathan L. Haines
المصدر: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)مصطلحات موضوعية: Male, 0301 basic medicine, Intraocular pressure, genetic structures, Optic disk, lcsh:Medicine, Muscle Proteins, Glaucoma, Genome-wide association study, 0302 clinical medicine, Risk Factors, lcsh:Science, Genetics, Multidisciplinary, LIM Domain Proteins, Middle Aged, Retinoic Acid 4-Hydroxylase, 3. Good health, Phenotype, Female, Glaucoma, Open-Angle, Genotype, Open angle glaucoma, Endophenotypes, LIM-Homeodomain Proteins, Optic Disk, Locus (genetics), Quantitative trait locus, Biology, Polymorphism, Single Nucleotide, Article, Tonometry, Ocular, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, gamma-Crystallins, Intraocular Pressure, Aged, lcsh:R, Calcium-Binding Proteins, Membrane Proteins, Macular degeneration, medicine.disease, eye diseases, 030104 developmental biology, Case-Control Studies, 030221 ophthalmology & optometry, lcsh:Q, sense organs, Visual Fields, Genome-Wide Association Study, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b51aa370db671dce4d05df4cd7c4455bTest
https://doi.org/10.1038/s41598-018-20435-9Test -
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المؤلفون: R. Rand Allingham, Douglas J Rhee, Julia E. Richards, Donald J. Zack, Mariusz Butkiewicz, Margaret A. Pericak-Vance, Janey L. Wiggs, Richard K. Lee, William K. Scott, Hugues Aschard, Lisa A Hark, Arthur J. Sit, Alex W. Hewitt, Felipe A. Medeiros, Gadi Wollstein, Sayoko E. Moroi, Louis R. Pasquale, Jessica N. Cooke Bailey, Murray H. Brilliant, Stuart MacGregor, Donald L. Budenz, William G. Christen, John H. Fingert, Yeunjoo E. Song, Jamie E Craig, Thasarat S. Vajaranant, Tony Realini, David A. Sullivan, Daniel I. Chasman, Peter Kraft, Jonathan L. Haines, Robert P. Igo, Jae H. Kang, Robert N. Weinreb, Joel S. Schuman, Kuldev Singh, Robert Ritch, Kathryn P. Burdon, Yutao Liu, Puya Gharahkhani, David A. Mackey, Michael A. Hauser, Terry Gaasterland, Douglas Vollrath, Bernard Rosner, Allison E. Ashley-Koch
المساهمون: Harvard Medical School [Boston] (HMS), University of California [San Diego] (UC San Diego), University of California, Harvard T.H. Chan School of Public Health
المصدر: Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, Association for Research in Vision and Ophthalmology, 2018, 59 (2), pp.629. ⟨10.1167/iovs.17-22708⟩
Investigative ophthalmology & visual science, vol 59, iss 2مصطلحات موضوعية: Male, 0301 basic medicine, primary open-angle glaucoma, genetic structures, Datasets as Topic, Genome-wide association study, Ophthalmology & Optometry, Medical and Health Sciences, MESH: Genotype, 0302 clinical medicine, Gene Frequency, genetics, MESH: Datasets as Topic, Low Tension Glaucoma, MESH: Low Tension Glaucoma, Genetics, [STAT.AP]Statistics [stat]/Applications [stat.AP], MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, Single Nucleotide, Middle Aged, Biological Sciences, Pathway analysis, pathway analysis, Open-Angle, Female, [STAT.ME]Statistics [stat]/Methodology [stat.ME], Glaucoma, Open-Angle, Metabolic Networks and Pathways, Genotype, Open angle glaucoma, MESH: Testosterone, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium, 03 medical and health sciences, MESH: Intraocular Pressure, MESH: Gene Frequency, Humans, Polymorphism, 1000 Genomes Project, Estrogen Metabolism, Allele frequency, Intraocular Pressure, MESH: Humans, Glaucoma, Testosterone (patch), eye diseases, MESH: Male, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Metabolic Networks and Pathways, testosterone, MESH: Genome-Wide Association Study, 030221 ophthalmology & optometry, MESH: Glaucoma, Open-Angle, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, sense organs, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], MESH: Female, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::085d9740d37a72c5216216334f75d84cTest
https://hal-pasteur.archives-ouvertes.fr/pasteur-03278714Test -
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المؤلفون: Nicholas G. Martin, René Höhn, Paul Mitchell, Gavin Band, Pamela Whittaker, Michelle Ricketts, Pirro G. Hysi, Jenefer M. Blackwell, Grant W. Montgomery, Elena Rochtchina, Manfred E. Beutel, Richard A. Mills, Anna Rautanen, Alagurevathi Jayakumar, Colin Freeman, Stephen Sawcer, Stuart MacGregor, Irene Schmidtmann, Cornelia M. van Duijn, Nicholas W. Wood, Sayoko E. Moroi, Jonathan L. Haines, Aniket Mishra, Ananth C. Viswanathan, Jie Jin Wang, Donald L. Budenz, Seyhan Yazar, Janey L. Wiggs, Garrett Hellenthal, Kathryn P. Burdon, Jerome I. Rotter, Jamie E Craig, Puya Gharahkhani, Juan P. Casas, R. Rand Allingham, Jost B. Jonas, Ozren Polasek, Julia E. Richards, Sarah Edkins, Rodney J. Scott, Abhishek Nag, Tanja Zeller, Rhian Gwilliam, Chris C. A. Spencer, David S. Friedman, Adriana I Iglesias, Radhi Ravindrarajah, Kent D. Taylor, Caroline Hayward, Eleni Giannoulatou, David A. Mackey, Michael A. Hauser, Paul J. Foster, Emma Gray, Audrey Duncanson, Yih Chung Tham, Murray H. Brilliant, Ching-Yu Cheng, William K. Scott, Robert N. Weinreb, Hugh S. Markus, Xueling Sim, David S. Siscovick, Matti Pirinen, John H. Fingert, Yelena Bykhovskaya, Louis R. Pasquale, Peter Donnelly, Donald J. Zack, Kuldev Singh, Cordelia Langford, Zhan Su, Céline Bellenguez, Joel S. Schuman, Peter Kraft, Christopher G. Mathew, Hannah Blackburn, Sara Widaa, Yuan Shi, Gabriel Cuellar-Partida, André G. Uitterlinden, Naomi Hammond, Panos Deloukas, Richard K. Lee, Robert Plomin, Jessica N. Cooke Bailey, Jae H. Kang, John Attia, Yutao Liu, Simon C. Potter, Jennifer Liddle, Matthew Gillman, Alex W. Hewitt, Margaret A. Pericak-Vance, James F. Wilson, Tien Yin Wong, Elvira Bramon, Janusz Jankowski, Henriët Springelkamp, Sarah E. Hunt, Anthony P Khawaja, Veronique Vitart, Xiaohui Li, Pieter W.M. Bonnemaijer, Damjan Vukcevic, Paul R. Lichter, Aiden Corvin, Sionne E. M. Lucas, Matthew Waller, Caroline C W Klaver, Douglas E. Gaasterland, Terry Gaasterland, Norbert Pfeiffer, Douglas Vollrath, Anthony Realini, Eranga N. Vithana, Gadi Wollstein, Thibaud Boutin, Owen T. McCann, Paul A. Weston, Lisa S. Kearns, Inês Barroso, Richard G. Pearson, Christopher J Hammond, Colin N. A. Palmer, Michael Inouye, Chiea Chuen Khor, Stephanie Loomis, Sandra E Staffieri, Yaron S. Rabinowitz, Richard C. Trembath, Tin Aung, William G. Christen, Paul N. Baird, Jing Xie, Elisabeth M. van Leeuwen, Serge Dronov, Arthur J. Sit, Colin E. Willoughby, Kang Zhang, Matthew A. Brown, Suzannah Bumpstead, Amy Strange, Elizabeth G. Holliday
المساهمون: Clinical Genetics, Epidemiology, Ophthalmology, Internal Medicine, Experimental Immunology, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Iglesias, Adriana I [0000-0001-5532-764X], Gharahkhani, Puya [0000-0002-4203-5952], Bailey, Jessica N Cooke [0000-0002-4001-8702], Li, Xiaohui [0000-0002-5037-3572], Khawaja, Anthony P [0000-0001-6802-8585], Haines, Jonathan L [0000-0002-4351-4728], Hayward, Caroline [0000-0002-9405-9550], Bonnemaijer, Pieter [0000-0001-5154-6765], Staffieri, Sandra E [0000-0003-3131-9359], Jonas, Jost B [0000-0003-2972-5227], Kang, Jae H [0000-0003-4812-0557], Wilson, James F [0000-0001-5751-9178], Foster, Paul J [0000-0002-4755-177X], Hysi, Pirro G [0000-0001-5752-2510], Hewitt, Alex W [0000-0002-5123-5999], Khor, Chiea Chuen [0000-0002-1128-4729], Pasquale, Louis R [0000-0002-5835-3496], Montgomery, Grant W [0000-0002-4140-8139], Klaver, Caroline CW [0000-0002-2355-5258], Hammond, Christopher J [0000-0002-3227-2620], Wiggs, Janey L [0000-0003-1890-3278], Burdon, Kathryn P [0000-0001-8217-1249], MacGregor, Stuart [0000-0001-6731-8142], Apollo - University of Cambridge Repository
المصدر: Nature Communications, 9,
Nature Communications, 9:1864. Nature Publishing Group
Nature communications, 9(1):1864. Nature Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2018, 9 (1), pp.1864. ⟨10.1038/s41467-018-03646-6⟩
Iglesias, Adriana I; Mishra, Aniket; Vitart, Veronique; Bykhovskaya, Yelena; Höhn, René Gerhard Joachim; Springelkamp, Henriët; Cuellar-Partida, Gabriel; Gharahkhani, Puya; Bailey, Jessica N Cooke; Willoughby, Colin E; Li, Xiaohui; Yazar, Seyhan; Nag, Abhishek; Khawaja, Anthony P; Polašek, Ozren; Siscovick, David; Mitchell, Paul; Tham, Yih Chung; Haines, Jonathan L; Kearns, Lisa S; ... (2018). Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nature communications, 9(1), p. 1864. Nature Publishing Group 10.1038/s41467-018-03646-6 <http://dx.doi.org/10.1038/s41467-018-03646-6Test>
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Nature Communications, 9, pp.
Iglesias, A I, Vitart, V, Li, X, Yazar, S, Nag, A, Khawaja, A P, Polašek, O, Siscovick, D, Mitchell, P, Chung Tham, Y, Haines, J L, Kearns, L S, Hayward, C, Shi, Y, van Leeuwen, E M, Taylor, K D, Bonnemaijer, P, Rotter, J I, Martin, N G, Zeller, T, Mills, R A, Souzeau, E, Staffieri, S E, Jonas, J B, Schmidtmann, I, Boutin, T, Kang, J H, Lucas, S E M, Wong, T Y, Beutel, M E, Uitterlinden, A G, Vithana, E N, Foster, P J, Hysi, P G, Hewitt, A W, Khor, C C, Pasquale, L R, Montgomery, G W, Klaver, C C W, Aung, T, Pfeiffer, N, Mackey, D A, Hammond, C J, Cheng, C-Y, Craig, J E, Rabinowitz, Y S & Wiggs, J L & Burdon, K P & van Duijn, C M & MacGregor, S 2018, ' Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases ', Nature Communications, vol. 9, 1864 . https://doi.org/10.1038/s41467-018-03646-6Testمصطلحات موضوعية: 0301 basic medicine, Lumican, Candidate gene, genetic structures, Fibrillin-1, Gene Expression, General Physics and Astronomy, Glaucoma, Genome-wide association study, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Corneal Diseases, Marfan Syndrome, Cornea, ADAMTS Proteins, 0302 clinical medicine, Myopia, lcsh:Science, Corneal Dystrophies, Hereditary, Genetics, Multidisciplinary, Eye Diseases, Hereditary, Mendelian Randomization Analysis, 3. Good health, medicine.anatomical_structure, Proteoglycans, Decorin, Glaucoma, Open-Angle, Keratoconus, Science, Quantitative Trait Loci, 610 Medicine & health, Biology, Quantitative trait locus, Polymorphism, Single Nucleotide, White People, General Biochemistry, Genetics and Molecular Biology, Transforming Growth Factor beta2, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Quantitative Trait, Heritable, Asian People, medicine, Humans, CHROMATIN STATES, GENE-EXPRESSION, RISK-FACTOR, MUTATIONS, LUMICAN, MOUSE, KERATOCONUS, DECORIN, POLYMORPHISMS, HERITABILITY, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, Loeys-Dietz Syndrome, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Genome, Human, General Chemistry, medicine.disease, eye diseases, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, 030221 ophthalmology & optometry, lcsh:Q, Ehlers-Danlos Syndrome, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, sense organs, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e97e1815813f732504c32b827988a988Test
http://hdl.handle.net/2066/191586Test -
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المؤلفون: S.E. Moroi, Christopher J Hammond, Peter Kraft, Terri L. Young, Tin Aung, Unnar Thorsteinsdottir, R. Rand Allingham, Francesca Pasutto, Murray H. Brilliant, Robert P. Igo, Joel S. Schuman, Paul R. Lichter, Adriana I. Iglesias Gonzalez, Jessica N. Cooke Bailey, Jonathan L. Haines, Chiea Chuen Khor, Robert Ritch, René Hoehn, John H. Fingert, Puya Gharahkhani, Terry Gaasterland, Calvin C P Pang, Cheng Yu Cheng, Louis R. Pasquale, Lisa A Hark, Andrew J. Lotery, Douglas Vollrath, Yutao Liu, David A. Mackey, Stuart MacGregor, William K. Scott, Pirro G. Hysi, Alex W. Hewitt, Jae H. Kang, Cornelia M. van Duijn, Arthur J. Sit, Margaret A. Pericak-Vance, Michael A. Hauser, Peter Bonnemaijer, Veronique Vitart, Kuldev Singh, D. L. Budenz, Doaa Nabih Maria, Gudmar Thorleifsson, Julia R. Richards, Kari Stefansson, Sumana R Chintalapudi, Doug Rhee, Richard K. Lee, Anthony P Khawaja, Anthony Realini, Robert W. Williams, Eranga N. Vithana, Gadi Wollstein, Fridbert Jonansson, Jamie E Craig, Xiang Di Wang, Tanja Zeller, Douglas E. Gaasterland, Donald J. Zack, Caroline C W Klaver, Janey L. Wiggs, Monica M. Jablonski
المساهمون: Psychiatry, Epidemiology, Clinical Genetics, Ophthalmology
المصدر: Chintalapudi, S R, Maria, D, Di Wang, X, Bailey, J N C, Allingham, R, Brilliant, M, Budenz, D, Fingert, J, Gaasterland, D, Gaasterland, T, Haines, J L, Hark, L, Hauser, M, Igo, R, Hee Kang, J, Kraft, P, Lee, R, Lichter, P, Liu, Y, Moroi, S, Pasquale, L R, Pericak-Vance, M, Realini, A, Rhee, D, Richards, J R, Ritch, R, Schuman, J, Scott, W K, Singh, K, Sit, A, Vollrath, D, Wollstein, G, Zack, D, Aung, T, Bonnemaijer, P, Cheng, C Y, Craig, J, Van Duijn, C, Gharahkhani, P, Iglesias Gonzalez, A, Hammond, C J, Hewitt, A, Hoehn, R, Jonansson, F, Khawaja, A, Chuen Khor, C, Klaver, C C W, Lotery, A, MacKey, D, MacGregor, S, Pang, C, Pasutto, F, Stefansson, K, Thorleifsson, G, Thorsteinsdottir, U, Vitart, V, Vithana, E, Young, T, Zeller, T, Hysi, P G, Wiggs, J L, Williams, R W & Jablonski, M M 2017, ' Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility ', Nature Communications, vol. 8, no. 1, 1755 . https://doi.org/10.1038/s41467-017-00837-5Test
Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)
Nature Communications
Nature Communications, 8(1):1755. Nature Publishing Groupمصطلحات موضوعية: 0301 basic medicine, Male, Intraocular pressure, Candidate gene, genetic structures, General Physics and Astronomy, Glaucoma, Genome-wide association study, Disease, Bioinformatics, Cohort Studies, Mice, 0302 clinical medicine, lcsh:Science, Multidisciplinary, biology, 3. Good health, Mice, Inbred DBA, CACNA2D1, Female, Glaucoma, Open-Angle, Open angle glaucoma, Science, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Genetic variation, medicine, Animals, Humans, Genetic Predisposition to Disease, Intraocular Pressure, Aged, business.industry, General Chemistry, medicine.disease, eye diseases, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, 030221 ophthalmology & optometry, biology.protein, lcsh:Q, Calcium Channels, sense organs, business, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b10ace24e0c92bcd94cc63b53e0738fTest
http://www.scopus.com/inward/record.url?scp=85035018930&partnerID=8YFLogxKTest -
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المؤلفون: Robert F. Mullins, Carly J. Lewis, Todd E. Scheetz, Kathleen R. Chirco, Budd A. Tucker, Edwin M. Stone, Rebecca M. Johnston, John H. Fingert
المصدر: Ophthalmic genetics. 39(1)
مصطلحات موضوعية: 0301 basic medicine, Male, genetic structures, Genotyping Techniques, Blotting, Western, Single-nucleotide polymorphism, Enzyme-Linked Immunosorbent Assay, Retinal Pigment Epithelium, Biology, Real-Time Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Retina, Article, Andrology, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), medicine, SNP, Humans, Genetics (clinical), Aged, Aged, 80 and over, Retinal pigment epithelium, Vascular Endothelial Growth Factor Receptor-1, Choroid, Anatomy, Macular degeneration, Middle Aged, medicine.disease, eye diseases, Tissue Donors, Blot, Ophthalmology, 030104 developmental biology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Wet Macular Degeneration, Female, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::979c1bf546d87f41567150cdf98c4627Test
https://pubmed.ncbi.nlm.nih.gov/28949775Test