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

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

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

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

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

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

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

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 2

مصطلحات 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

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 Group

مصطلحات 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

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