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

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: 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

المؤلفون: Michael G. Anderson, Adam Hedberg-Buenz, Robert F. Mullins, Kathy Miller, Ben R. Roos, John H. Fingert, Carly J. Lewis

المصدر: Human molecular genetics. 26(1)

مصطلحات موضوعية: 0301 basic medicine, Genetically modified mouse, Male, Retinal Ganglion Cells, genetic structures, Transgene, Glaucoma, Mice, Transgenic, Biology, Protein Serine-Threonine Kinases, Retinal ganglion, 03 medical and health sciences, Mice, 0302 clinical medicine, Normal tension glaucoma, Gene duplication, Genetics, medicine, Animals, Humans, Molecular Biology, Ganglion cell layer, Genetics (clinical), Intraocular Pressure, General Medicine, Articles, medicine.disease, Molecular biology, eye diseases, Low Tension Glaucoma, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Phenotype, 030221 ophthalmology & optometry, Female, sense organs

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35b458292669cc4f05f00849ac09de8eTest
https://pubmed.ncbi.nlm.nih.gov/28025332Test

المؤلفون: Hemin R. Chin, Donald J. Zack, Yangfan P. Liu, Kang Zhang, Richard K. Lee, Edwin C. Oh, Robert N. Weinreb, Jonathan L. Haines, Terry Gaasterland, David S. Friedman, Douglas Vollrath, Louis R. Pasquale, Nicholas Katsanis, Kuldev Singh, Paul R. Lichter, Benjamin T. Whigham, Allison E. Ashley-Koch, Brian L. Yaspan, Janey L. Wiggs, Douglas E. Gaasterland, Megan U. Carnes, Jessica N. Cooke Bailey, Chunyan Qiao, Jae H. Kang, William K. Scott, Cathy Essentia McCarty, Sayoko E. Moroi, Donald L. Budenz, Stephanie Loomis, Arthur J. Sit, Michael A. Hauser, Melanie E. Garrett, Anthony Realini, Margaret A. Pericak-Vance, Gadi Wollstein, R. Rand Allingham, Julia E. Richards, Shane J. Havens, Murray H. Brilliant, Joel S. Schuman, John H. Fingert, Yutao Liu

المساهمون: Gibson, Greg

المصدر: PLoS genetics, vol 10, iss 5
PLoS Genetics, Vol 10, Iss 5, p e1004372 (2014)
PLoS Genetics

مصطلحات موضوعية: Aging, Cancer Research, genetic structures, Glaucoma, Genome-wide association study, Neurodegenerative, Bioinformatics, Eye, NEIGHBORHOOD Consortium Investigators, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, Genetics (clinical), Genetics, 0303 health sciences, medicine.anatomical_structure, Open-Angle, Optic nerve, Female, Chromosomes, Human, Pair 9, Glaucoma, Open-Angle, Biotechnology, Research Article, Human, Pair 9, lcsh:QH426-470, Single-nucleotide polymorphism, Locus (genetics), Biology, Retinal ganglion, Chromosomes, 03 medical and health sciences, medicine, Humans, Allele, Eye Disease and Disorders of Vision, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Intraocular Pressure, Alleles, 030304 developmental biology, Aged, Homeodomain Proteins, Retina, Human Genome, Neurosciences, Biology and Life Sciences, Human Genetics, Optic Nerve, medicine.disease, eye diseases, lcsh:Genetics, Genetics of Disease, 030221 ophthalmology & optometry, Trans-Activators, sense organs, Gene Function, Genome-Wide Association Study, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb8177ed75c16a3fd6be331c812b4daaTest
https://escholarship.org/uc/item/8gv231gqTest

المؤلفون: Robert F. Mullins, Jian Huang, Edwin M. Stone, Kai Wang, Thomas A. Oetting, Frances Solivan-Timpe, James C. Folk, John H. Fingert, Jessica M. Skeie

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 12, Iss 1, p 58 (2011)

مصطلحات موضوعية: Risk, lcsh:Internal medicine, lcsh:QH426-470, genetic structures, Genotype, Single-nucleotide polymorphism, Drusen, Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Retina, Pathogenesis, 03 medical and health sciences, Macular Degeneration, 0302 clinical medicine, Genetics, medicine, SNP, Animals, Humans, Genetics(clinical), Allele, L-Selectin, lcsh:RC31-1245, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Choroid, Genetic Variation, Macular degeneration, medicine.disease, eye diseases, Genotype frequency, lcsh:Genetics, Disease Models, Animal, P-Selectin, Microscopy, Fluorescence, 030221 ophthalmology & optometry, sense organs, E-Selectin, Genetic screen, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::879242f1c0beda8accb508685a72235eTest
https://pubmed.ncbi.nlm.nih.gov/21521525Test