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1
المؤلفون: John H. Fingert, Edwin M. Stone, Michael G. Anderson, Robert F. Mullins, Keith D. Carter, Markus H. Kuehn, Wallace L.M. Alward, Miles J. Flamme-Wiese, Megan J Riker, Nasreen A. Syed, Carly J. van der Heide
المصدر: Ophthalmology Glaucoma. 1:132-138
مصطلحات موضوعية: Male, 0301 basic medicine, Intraocular pressure, medicine.medical_specialty, genetic structures, Glaucoma, medicine.disease_cause, Article, Aqueous Humor, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Trabecular Meshwork, Ophthalmology, medicine, Humans, Eye Proteins, Endoplasmic Reticulum Chaperone BiP, Intraocular Pressure, Myocilin, Glycoproteins, Retrospective Studies, Mutation, business.industry, DNA, General Medicine, Middle Aged, medicine.disease, Immunohistochemistry, Tissue Donors, eye diseases, Pathophysiology, Cytoskeletal Proteins, 030104 developmental biology, medicine.anatomical_structure, 030221 ophthalmology & optometry, Female, sense organs, Trabecular meshwork, business, Glaucoma, Open-Angle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c9fadf8a5e502bcbb7a71ff786988edTest
https://doi.org/10.1016/j.ogla.2018.08.004Test -
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المؤلفون: Elliott H. Sohn, Mark A. Greiner, Andrew E. Pouw, Chunhua Jiao, Robert F. Mullins, John H. Fingert, Ian C. Han, Jessica M. Skeie, Razek Georges Coussa
المصدر: Cells
Cells, Vol 10, Iss 687, p 687 (2021)مصطلحات موضوعية: 0301 basic medicine, collagen, descemet membrane, genetic structures, Angiogenesis, Retinal Pigment Epithelium, Review, Interphotoreceptor matrix, AMD, Bruch's membrane, Retina, metalloproteinases, interphotoreceptor matrix, Extracellular matrix, Cornea, TIMP-3, 03 medical and health sciences, Macular Degeneration, 0302 clinical medicine, medicine, Humans, TGF-beta, lcsh:QH301-705.5, Retinal pigment epithelium, Neovascularization, Pathologic, Chemistry, Choroid, bruch’s membrane, General Medicine, VEGF, eye diseases, Cell biology, Extracellular Matrix, 030104 developmental biology, medicine.anatomical_structure, lcsh:Biology (General), 030221 ophthalmology & optometry, MMP-14, Trabecular meshwork, sense organs, Bruch Membrane, MMP-9, Vitreous base
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf31962c4e2725216bdcad1a300141c0Test
https://pubmed.ncbi.nlm.nih.gov/33804633Test -
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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: Douglas J Rhee, Bernard Rosner, Louis R. Pasquale, Yeunjoo E. Song, Hugues Aschard, Caroline C W Klaver, Allison E. Ashley-Koch, Jessica N. Cooke Bailey, Felipe A. Medeiros, Gadi Wollstein, Jonathan L. Haines, Pirro G. Hysi, Terry Gaasterland, Lisa A Hark, Richard K. Lee, Vikas Gulati, Douglas Vollrath, R. Rand Allingham, Margaret A. Pericak-Vance, Anthony P Khawaja, Julia E. Richards, William K. Scott, Murray H. Brilliant, Ching-Yu Cheng, Robert P. Igo, Joel S. Schuman, Daniel I. Chasman, Michael A. Hauser, Yutao Liu, Tony Realini, Robert N. Weinreb, Jae H. Kang, Robert Ritch, C.M. vanDuijn, Kuldev Singh, Sayoko E. Moroi, Arthur J. Sit, Donald L. Budenz, Peter Kraft, Donald J. Zack, John H. Fingert, Janey L. Wiggs, William G. Christen, Adriana I Iglesias, Shane Haven
المساهمون: Harvard Medical School [Boston] (HMS), Centre d'Études Biologiques de Chizé - UMR 7372 (CEBC), Université de La Rochelle (ULR)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), King‘s College London, Laboratoire Mouvement Sport Santé (M2S), École normale supérieure - Cachan (ENS Cachan)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université de Brest (UBO)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Singapore Eye Research Institute [Singapore] (SERI), Lawrence Livermore National Laboratory (LLNL), Epidemiology, Ophthalmology, Institut National de la Recherche Agronomique (INRA)-La Rochelle Université (ULR)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-École normale supérieure - Rennes (ENS Rennes)-Université de Brest (UBO)-Université de Rennes 2 (UR2)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (11), pp.1261-1267. ⟨10.1038/ejhg.2017.136⟩
European journal of human genetics : EJHG, vol 25, iss 11
European Journal of Human Genetics, 25(11), 1261-1267. Nature Publishing Group
European Journal of Human Genetics, 25, 11, pp. 1261-1267
European Journal of Human Genetics, 25, 1261-1267
European Journal of Human Genetics, 2017, 25 (11), pp.1261-1267. ⟨10.1038/ejhg.2017.136⟩مصطلحات موضوعية: Male, 0301 basic medicine, Aging, Linkage disequilibrium, Intraocular pressure, genetic structures, Glaucoma, Blood Pressure, Genome-wide association study, Neurodegenerative, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Linkage Disequilibrium, 0302 clinical medicine, Medicine, Genetics (clinical), Genetics & Heredity, Genetics, [STAT.AP]Statistics [stat]/Applications [stat.AP], MESH: Genetic Predisposition to Disease, MESH: Blood Pressure, 3. Good health, Open-Angle, MESH: Linkage Disequilibrium, Female, [STAT.ME]Statistics [stat]/Methodology [stat.ME], Glaucoma, Open-Angle, medicine.medical_specialty, Open angle glaucoma, Clinical Sciences, International Glaucoma Genetics Consortium, Genetic correlation, Article, 03 medical and health sciences, MESH: Intraocular Pressure, Ophthalmology, Humans, Genetic Predisposition to Disease, Eye Disease and Disorders of Vision, Intraocular Pressure, MESH: Humans, business.industry, Human Genome, Neurosciences, Heritability, medicine.disease, MESH: Male, eye diseases, 030104 developmental biology, Blood pressure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, 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], business, MESH: Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::960769d0fdf5971c00cc3da58c318ebbTest
https://doi.org/10.1038/ejhg.2017.136Test -
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المؤلفون: Mae O. Gordon, Ben Faga, Ben R. Roos, John H. Fingert, Michael A. Kass, Todd E. Scheetz, Kai Wang, Lizette Ortega
المصدر: Ophthalmology. 123:2527-2536
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Intraocular pressure, Genotype, Genotyping Techniques, genetic structures, Black People, Ocular hypertension, Glaucoma, Polymorphism, Single Nucleotide, White People, Article, Cohort Studies, Tonometry, Ocular, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Risk Factors, Ophthalmology, Internal medicine, medicine, Humans, Allele frequency, Alleles, Intraocular Pressure, business.industry, Proportional hazards model, Membrane Proteins, Middle Aged, medicine.disease, eye diseases, 030104 developmental biology, Relative risk, Cohort, 030221 ophthalmology & optometry, Female, Ocular Hypertension, Calcium Channels, sense organs, business, Glaucoma, Open-Angle, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c015d45b5a6c5ea80d1bb09c079f944fTest
https://doi.org/10.1016/j.ophtha.2016.08.036Test -
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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: Mathew A. Miller, Nathan C. Sears, John H. Fingert, Erin A. Boese
المصدر: Exp Eye Res
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Intraocular pressure, genetic structures, Open angle glaucoma, Glaucoma, Cell Cycle Proteins, Protein Serine-Threonine Kinases, medicine.disease_cause, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Ophthalmology, Normal tension glaucoma, Humans, Medicine, Eye Proteins, Myocilin, Glycoproteins, Optineurin, Mutation, business.industry, Membrane Transport Proteins, Mendelian Randomization Analysis, medicine.disease, eye diseases, Sensory Systems, Cytoskeletal Proteins, 030104 developmental biology, medicine.anatomical_structure, 030221 ophthalmology & optometry, sense organs, Trabecular meshwork, business, Glaucoma, Open-Angle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4b7f27b677fec6ea323eb5cd673f99dTest
https://doi.org/10.1016/j.exer.2019.107702Test -
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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