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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: 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: 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: Katie L. Pennington, Denise J. Morgan, Paul S. Bernstein, Leah A. Owen, Eileen S. Hwang, John H. Fingert, Margaret M. DeAngelis
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)مصطلحات موضوعية: 0301 basic medicine, Male, Intraocular pressure, Pathology, medicine.medical_specialty, lcsh:Internal medicine, Visual acuity, lcsh:QH426-470, genetic structures, Adolescent, DNA Copy Number Variations, Optic Disk, Quantitative Trait Loci, 030105 genetics & heredity, Biology, 03 medical and health sciences, Optic pit, Genetics, medicine, Humans, Eye Abnormalities, lcsh:RC31-1245, Child, Genetics (clinical), Coloboma, medicine.diagnostic_test, Fundus photography, Optic Nerve, medicine.disease, Dilated fundus examination, eye diseases, 3. Good health, Pedigree, lcsh:Genetics, 030104 developmental biology, Child, Preschool, Optic nerve, Disease Progression, Maculopathy, Female, sense organs, medicine.symptom, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fb6b44abdb5ff466e7b4c216bbfc541Test
http://europepmc.org/articles/PMC6487068Test -
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المؤلفون: Mohideen Abdul Kader, Alan L. Robin, Subbiah. R. Krishnadas, John H. Fingert, Ben R. Roos, Sundaresan Periasamy, Prasanthi Namburi, Sarika Ramugade, Rengappa Ramakrishnan
المصدر: Ophthalmic Genetics. 38:222-225
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, genetic structures, Open angle glaucoma, Gonioscopy, India, Age at diagnosis, Glaucoma, Cell Cycle Proteins, Protein Serine-Threonine Kinases, Article, Ophthalmoscopy, Young Adult, 03 medical and health sciences, Transcription Factor TFIIIA, Ophthalmology, medicine, Humans, Eye Proteins, Intraocular Pressure, Genetics (clinical), Myocilin, Aged, Glycoproteins, Optineurin, medicine.diagnostic_test, Family structure, business.industry, Membrane Transport Proteins, Middle Aged, medicine.disease, eye diseases, Pedigree, Cytoskeletal Proteins, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Visual Field Tests, Female, Ocular Hypertension, sense organs, Visual Fields, business, Glaucoma, Open-Angle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc09002328c775003d099a8b3bcbcd86Test
https://doi.org/10.1080/13816810.2016.1193883Test -
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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: Kevin Bugge, Gulab Zode, Ankur Jain, Feng Zhang, Abbot F. Clark, Winston X. Yan, Ramesh B. Kasetti, John H. Fingert, Charles Searby, Fei A. Ran, Tasneem Putliwala Sharma, Val C. Sheffield
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 114(42)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, genetic structures, Glaucoma, Biology, In Vitro Techniques, Cell Line, 03 medical and health sciences, Mice, Genome editing, Ophthalmology, medicine, CRISPR, Animals, Humans, Eye Proteins, Myocilin, Glycoproteins, Gene Editing, Multidisciplinary, Endoplasmic reticulum, Genetic Therapy, Biological Sciences, medicine.disease, eye diseases, Cytoskeletal Proteins, 030104 developmental biology, medicine.anatomical_structure, Cancer research, Unfolded protein response, Trabecular meshwork, sense organs, CRISPR-Cas Systems, Ex vivo, Glaucoma, Open-Angle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7dc093c4862b3d65519a96e401b52ecTest
https://pubmed.ncbi.nlm.nih.gov/28973933Test -
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المؤلفون: Young H. Kwon, Daniel I. Bettis, John H. Fingert, Ben J. Janson, Lorraine M. Provencher, Kenneth M. Goins, Wallace L.M. Alward, Mark A. Greiner, Michael D. Wagoner
المصدر: Survey of ophthalmology. 63(4)
مصطلحات موضوعية: 0301 basic medicine, Corneal endothelium, Intraocular pressure, medicine.medical_specialty, Visual acuity, genetic structures, Endothelium, medicine.medical_treatment, Glaucoma, Aqueous Humor, 03 medical and health sciences, 0302 clinical medicine, Cornea, Ophthalmology, medicine, Glaucoma surgery, Humans, Antihypertensive Agents, Intraocular Pressure, business.industry, Corneal Transplant, Corneal Endothelial Cell Loss, medicine.disease, eye diseases, 030104 developmental biology, medicine.anatomical_structure, Filtering Surgery, 030221 ophthalmology & optometry, sense organs, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29375146e6ada0d3dab25e7a2ad58df6Test
https://pubmed.ncbi.nlm.nih.gov/29146208Test