المؤلفون: Chinchore, Yashodhan, Mitra, Amitavo, Dolph, Patrick J, Perrimon, Norbert

المصدر: Dartmouth Scholarship

مصطلحات موضوعية: QH426-470, Ophthalmology/Inherited Eye Disorders, Genetics and Genomics/Disease Models, Genetics, Cell Biology/Cellular Death and Stress Responses, Genetics and Genomics, Genetics of Disease, Ophthalmology/Retinal Disorders, Research Article, Endosomes, Lysosomes, Animals, Humans, Drosophila melanogaster, Retinal Degeneration, Rhodopsin, Drosophila Proteins, Cell Death, Cell Survival, Endocytosis, Mutation, Photoreceptor Cells, Invertebrate, Biology, Disease Modeling, Life Sciences, Ophthalmology

وصف الملف: application/pdf

Relation: https://digitalcommons.dartmouth.edu/facoa/1482; https://digitalcommons.dartmouth.edu/context/facoa/article/2485/viewcontent/ptpmcrender.fcgi

الاتاحة: https://digitalcommons.dartmouth.edu/facoa/1482
https://doi.org/10.1371/journal.pgen.1000377
https://digitalcommons.dartmouth.edu/context/facoa/article/2485/viewcontent/ptpmcrender.fcgi

المؤلفون: Qisheng You, Mark W. Hankins, Robert E MacLaren, Mandeep S. Singh, Samantha R. De Silva, Peter Charbel Issa, Daniel M. Lipinski, Alun R. Barnard, Matthew J. During, Alexandre Mouravlev

المصدر: PLoS ONE, Vol 8, Iss 4, p e60361 (2013)
PLoS ONE

مصطلحات موضوعية: Retinal degeneration, Genetic enhancement, viruses, Gene Expression, lcsh:Medicine, Transduction (genetics), Mice, 0302 clinical medicine, Transduction, Genetic, lcsh:Science, Immune Response, Recombination, Genetic, 0303 health sciences, Multidisciplinary, Retinal Degeneration, Gene Transfer Techniques, Gene Therapy, Dependovirus, 3. Good health, Medicine, Retinal Disorders, Expression cassette, Viral Vectors, Research Article, Primates, Immunology, Genetic Vectors, Green Fluorescent Proteins, Mice, Transgenic, Gene delivery, Biology, Microbiology, Vector Biology, Retina, Viral vector, Cell Line, 03 medical and health sciences, medicine, Animals, Humans, Inherited Eye Disorders, Tropism, 030304 developmental biology, Clinical Genetics, lcsh:R, medicine.disease, Virology, Molecular biology, Ophthalmology, Viral Tropism, Macular Disorders, Tissue tropism, lcsh:Q, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c43ec3eeca870f18b7b0d7dd69c361af
https://ora.ox.ac.uk/objects/uuid:4ce63ee9-7324-4257-bdae-99ed95fcc38e

المؤلفون: Naoyuki Tanimoto, Andreas Wenzel, Charlotte E. Remé, Mathias W. Seeliger, Rod Bremner, M. Dominik Fischer, Regine Muehlfriedel, Serge A. van de Pavert, Gesine Huber, Jan Wijnholds, Christian Grimm, Marek Pacal, Susanne C. Beck, E. Fahl

المساهمون: Molecular cell biology and Immunology, CCA - Immuno-pathogenesis, University of Zurich, Fischer, M D, Netherlands Institute for Neuroscience (NIN)

المصدر: PLoS ONE
PLoS ONE, Vol 4, Iss 10, p e7507 (2009)
PLoS ONE, 4(10), 1-7. Public Library of Science
Fischer, M D, Huber, G, Beck, S C, Tanimoto, N, Muehlfriedel, R, Fahl, E, Grimm, C, Wenzel, A, Reme, C E, van de Pavert, S A, Wijnholds, J, Pacal, M, Bremner, R & Seeliger, M W 2009, ' Noninvasive, In Vivo Assessment of Mouse Retinal Structure Using Optical Coherence Tomography ', PLoS ONE, vol. 4, no. 10, pp. 1-7 . https://doi.org/10.1371/journal.pone.0007507
PLoS One, 4. Public Library of Science

مصطلحات موضوعية: Retinal degeneration, Male, Pathology, Light, genetic structures, Retinoblastoma Protein, chemistry.chemical_compound, Mice, 0302 clinical medicine, Conditional gene knockout, Mice, Knockout, 0303 health sciences, Multidisciplinary, medicine.diagnostic_test, Retinal Degeneration, Ophthalmology/Inherited Eye Disorders, medicine.anatomical_structure, Basic-Leucine Zipper Transcription Factors, Medicine, Female, Neuroscience/Neurobiology of Disease and Regeneration, Preclinical imaging, Tomography, Optical Coherence, Research Article, 10018 Ophthalmology Clinic, medicine.medical_specialty, Science, 610 Medicine & health, Nerve Tissue Proteins, 1100 General Agricultural and Biological Sciences, Biology, Retina, 03 medical and health sciences, Optical coherence tomography, 1300 General Biochemistry, Genetics and Molecular Biology, medicine, Animals, Outer nuclear layer, Eye Proteins, 030304 developmental biology, 1000 Multidisciplinary, Retinal pigment epithelium, Neuroscience/Sensory Systems, Lasers, Retinal, medicine.disease, eye diseases, Mice, Inbred C57BL, Ophthalmoscopy, chemistry, Genetics and Genomics/Disease Models, Cell Biology/Neuronal and Glial Cell Biology, 030221 ophthalmology & optometry, sense organs

وصف الملف: application/pdf; Fischer_et_al_2009_V.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75811cdb0ad1ad50c7f5be3c6e587d6e
https://doi.org/10.1371/journal.pone.0007507

المؤلفون: Kazunori Hirasawa, Ryo Asaoka, Yoshitaka Nakao, Masato Matsuura, Mieko Yanagisawa, Shunsuke Nakakura, Hiroshi Murata, Yoshiaki Kiuchi

المصدر: PLoS ONE, Vol 11, Iss 8, p e0161742 (2016)
PLoS ONE

مصطلحات موضوعية: Male, Intraocular pressure, Eye Diseases, genetic structures, Intraclass correlation, Scheimpflug principle, Glaucoma, lcsh:Medicine, Eye, Cornea, 0302 clinical medicine, Medicine and Health Sciences, lcsh:Science, Mathematics, Aged, 80 and over, Multidisciplinary, Physics, Classical Mechanics, Middle Aged, Deformation, Physical Sciences, Female, Anatomy, Glaucoma, Open-Angle, Research Article, Adult, Spectrum analyzer, medicine.medical_specialty, Ocular Anatomy, Models, Biological, Corneal hysteresis, 03 medical and health sciences, Tonometry, Ocular, Ocular System, Ophthalmology, Linear regression, medicine, Humans, Inherited Eye Disorders, Intraocular Pressure, Aged, Reproducibility, Damage Mechanics, lcsh:R, Biology and Life Sciences, medicine.disease, eye diseases, 030221 ophthalmology & optometry, Eyes, lcsh:Q, sense organs, Head, human activities, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b550ad08f0c9935e375af951ffc0c6cb
http://europepmc.org/articles/PMC5006993?pdf=render

المؤلفون: Mario Pirastu, G. E. Munn, L. H. Ketai, K. Taylor, Angela Döring, R. Chan, Jeffrey L. Mahon, Bradley D. Jones, M. Hebdon, Williams L. Dews, Douglas A. Greene, Michael D. Weiss, Sapna Gangaputra, E. A. Tanaka, J. Ginsberg, Ben A. Oostra, Alka Jain, D. Singer, M. Burger, Szilard Kiss, David A. Bluemke, Barbara H. Braffett, Jugnoo S Rahi, L. Sun, C. Clark, Richard M. Bergenstal, Patricia Gatcomb, Paul Mitchell, R. Trail, D. Ryan, Robert Bergren, D. D. Joseph, G. Grand, Blanche M. Chavers, J. M.Verhoeven Virginie, David S. Schade, C. Cowie, Sharon B. Schwartz, G. Ziegler, Lloyd Paul Aiello, Michael H. Brent, John I. Malone, C. Pittman, M. Reid, Stephen S. Feman, Maurizio Fossarello, Kathie L. Hermayer, J. Parker, M. N. Iyer, Hamid Mojibian, Rose Gubitosi-Klug, P. W. Conrad, Daniel T. Lackland, Michael Brändle, C. Canny, Alan F. Wright, M. E. Lackaye, David A. Lee, Rickey E. Carter, J. Brown-Friday, J. K. Jones, J. Distad, A. Thomas, Gordon C. Weir, S. Caulder, M. Szpiech, R. Gstalder, D. Rubinstein, Fred W. Whitehouse, T. Adkins, Gayle M. Lorenzi, L. Survant, Naji Younes, Robert Detrano, Lucy A. Levandoski, Charles Campbell, Lawrence J. Singerman, Johannes R. Vingerling, Joao A.C. Lima, D. Counts, V. Gama, D. M. Nathan, John Dupre, Cornelia M. van Duijn, N. Wong, Anita Harrington, Caroline Hayward, Shelley B. Bull, R. Hackel, William I. Sivitz, Enrico Cagliero, M. Spencer, Albert Hofman, Samuel S. Engel, John E. Hokanson, Julio V. Santiago, David M. Kendall, O. Crofford, T. Thompson, Lee M. Jampol, Kevin Morgan, R. Sussman, James W. Albers, Anita Agarwal, Kevin J. Blinder, Anthony D. Morrison, Nikhil D. Patel, R. Prusak, S. Hitt, Alexander R. Lyon, Saul Genuth, J. Sheindlin, J. Vaccaro-Kish, Goran Benčić, P. Titus, Lisa Diminick, N. Wimmergren, Shelly Olson, Z. Strugula, L. Goings, Lennart C. Karssen, A. Blevins, Harjit Chahal, Ronald K. Mayfield, S. Pendegast, T. J. Lyons, Ozren Polasek, Matthew A. Thomas, Annette Barnie, P. Lindsey, L. Funk, James L. Kinyoun, Neil H. White, L. Mayer, Rodney A. Lorenz, Susan G. Elner, R. L. Pate, E. Simjanoski, R. Beaser, J. Gothrup, Tien Yin Wong, Thomas Bettecken, Jae-Ho Lee, Elsayed Z. Soliman, Ronald P. Danis, Phillippa M. Cumberland, J. Selby, Pamela Rath, H. Martinez, S. Neill, D. Rosenberg, D. Zheng, R. Devenyi, Murk-Hein Heinemann, Albert V. Smith, Alicia J. Jenkins, Rukhsana G. Mirza, Konrad Oexle, Osama Hamdy, John D. Brunzell, Trevor J. Orchard, Daniel Cornfeld, K. Nickander, Igor Rudan, L. Kim, T. Williams, Christopher M. Ryan, William Dahms, P. Paczan Rath, S. Elsing, Matthew J. Budoff, Orville G. Kolterman, Seang-Mei Saw, Lisa A. Prosser, A. Determan, M. Espeland, L. Van Ottingham, B. Petty, A. Farr, Brandy N. Rutledge, Patricia A. Cleary, Margaret L. Bayless, E. Cupelli, Ronald J. Prineas, Jonathan Goldstein, Stefan Fritz, J. Harth, K. Stoessel, Jerry P. Palmer, J. Soule, John A. Colwell, Stephen W. Scherer, Cyndi F. Liu, M. Phillips, Alexander J. Brucker, B. Rogness, Caroline C W Klaver, Joan E. Bailey-Wilson, Claire L. Simpson, Gaurav K. Shah, Louis A. Lobes, S. Mohsen Hosseini, Veronique Vitart, Dwight Stambolian, Mark S. Mandelcorn, John E. Godine, Gabriel Virella, A. Cochrane, David A. Nicolle, Timothy J. Lyons, S. Schussler, Abbas E. Kitabchi, N. Grove, Matthew D. Davis, Andrew K. Vine, Joseph F. Polak, Helen Lambeth, Ayad A. Jaffa, S. Rogers, Samuel Dagogo-Jack, C. Siebert, K. Hansen, H. Shamoon, David J. Brillon, D. Schlossman, H. Ricks, Toby A. Gardner, Mary Frances Cotch, J. Quin, Om P. Ganda, Fernando Rivadeneira, F. Thoma, Brian Fleck, K. Klumpp, Manjot K. Gill, R. J. van der Geest, Hunter Wessells, P. Salemi, P. Gaston, Tae Sup Lee, T. Woodfill, Scott M. Steidl, Thomas Meitinger, Laura Portas, John E. Chapin, Robert Wojciechowski, Martin J. Stevens, Z. M. Zhang, John D. Maynard, Paul G. Arrigg, S. Yacoub-Wasef, Andrew D. Paterson, Barbara J. Maschak-Carey, Ramzi K. Hemady, J. Dingledine, Sheila Smith-Brewer, D. Ostrowski, D. Kenny, Leslie J. Raffel, R. Jarboe, E. Angus, G. Sharuk, Jie Jin Wang, Jye-Yu C. Backlund, K. Chan, R. K. Mayfield, M. Nutaitis, William V. Tamborlane, Emily Y. Chew, Michael H. Goldbaum, S. Kwon, Davida F. Kruger, Mary E. Larkin, Catherine L. Martin, M. Novak, David E. Goldstein, J. Rosenzwieg, D. J. Becker, A. E. Boulton, Jean M. Bucksa, Richard S. Crow, Thomas Donner, Philip A. Low, J. Fradkin, K. Folino, M. L. Bernal, Daniel L. McGee, R. D′Agostino, David G. Miller, Evrim B. Turkbey, Eva L. Feldman, Larry Rand, Harry Campbell, Mark R. Palmert, N. Silvers, M. Driscoll, M. Bracey, Mark E. Molitch, Boniuk Burgess, John P. Bantle, J. D. Carey, Edward Chaum, Philip Raskin, I. H. de Boer, Peter R. Pavan, C. Wigley, Maria F. Lopes-Virella, Pirro G. Hysi, C. Sommer, R. Eastman, B. Schaefer, Maren Nowicki, K. Lee, S. Braunstein, Hugh D. Wabers, A. F. Burrows, M. Johnson, B. Zinman, M. Ong, Samir S. Deeb, C. Gauthier-Kelly, S. Novella, C. Miao, S. Strowig, S. Crowell, Teri A. Manolio, S. Yalamanchi, Christian Gieger, D. Meyer, Louis M. Luttrell, Janie Lipps, William H. Herman, Michael W. Steffes, A. Galprin, A. Iannacone, Federico Murgia, E. Steuer, KyungMann Kim, James F. Wilson, S. Genuth, André G. Uitterlinden, Dean P. Hainsworth, J. Giangiacomo, Wanjie Sun, Aruna V. Sarma, R. Liss, S. Catton, Rodica Pop-Busui, S. Moser, Bernard H. Doft, A. Malayeri, B. Gloeb, W. T. Garvey, Andrew P. Boright, Alan M. Jacobson, Larry D. Hubbard, Barbara E.K. Klein, Shyam M. Thomas, Allan Gordon, Allan L. Drash, S. Yoser, S. Johnsonbaugh, L. Kaminski, G. Meekins, Jonathan Q. Purnell, B. Burzuk, John M. Lachin, M. Geckle, Ronald J. Oudiz, Isaac Boniuk, Xiaohui Li, V. Reppucci, H. Wolpert, D. Etzwiler, M. Brabham, Maria Schache, E. Golden, M. Fox, Jyotika K. Fernandes, Jerome I. Rotter, Paul N. Baird, Michael Bryer-Ash, M. Stern, H. Engel, M. Hawkins, Najaf Amin, C. O′Donnell, M. McLellan, G. Comer, Ronald Klein, D. Sandstrom, H. Zegarra, J. Gordon, M. B. Murphy, P. A. Bourne, L. Baker, Cristina Venturini, D. Wood, H.-Erich Wichmann, M. May, A. Kowarski, Timothy W. Olsen, Thomas J. Songer, Christopher J Hammond, P. Lou, Jill P. Crandall

المساهمون: Miao, Xiaoping, Ophthalmology, Obstetrics & Gynecology, Epidemiology, Clinical Genetics, Internal Medicine

المصدر: Simpson, C L, Wojciechowski, R, Oexle, K, Murgia, F, Portas, L, Li, X, Verhoeven, V J M, Vitart, V, Schache, M, Hosseini, S M, Hysi, P G, Raffel, L J, Cotch, M F, Chew, E, Klein, B E K, Klein, R, Wong, T Y, Van Duijn, C M, Mitchell, R, Saw, S M, Fossarello, M, Wang, J J, Polasek, O, Campbell, H, Rudan, I, Oostra, B A, Uitterlinden, A G, Hofman, A, Rivadeneira, F, Amin, N, Karssen, L C, Vingerling, J R, Doering, A, Bettecken, T, Bencic, G, Gieger, C, Wichmann, H-E, Wilson, J F, Venturini, C, Fleck, B, Cumberland, P M, Rahi, J S, Hammond, C J, Hayward, C, Wright, A F, Paterson, A D, Baird, P N, Klaver, C C W & Rotter, J I & Pirastu, M 2014, ' Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci ', PLoS ONE, vol. 9, no. 9, 107110 . https://doi.org/10.1371/journal.pone.0107110
PloS one, vol 9, iss 9
PloS one 9 (2014). doi:10.1371/journal.pone.0107110
info:cnr-pdr/source/autori:Simpson, Claire L.; Wojciechowski, Robert; Oexle, Konrad; Murgia, Federico; Portas, Laura; Li, Xiaohui; Verhoeven, Virginie J. M.; Vitart, Veronique; Schache, Maria; Hosseini, S. Mohsen; Hysi, Pirro G.; Raffel, Leslie J.; Cotch, Mary Frances; Chew, Emily; Klein, Barbara E. K.; Klein, Ronald; Wong, Tien Yin; Van Duijn, Cornelia M.; Mitchell, Paul; Saw, Seang Mei; Fossarello, Maurizio; Wang, Jie Jin; Polasek, Ozren; Campbell, Harry; Rudan, Igor; Oostra, Ben A.; Uitterlinden, Andre G.; Hofman, Albert; Rivadeneira, Fernando; Amin, Najaf; Karssen, Lennart C.; Vingerling, Johannes R.; Doering, Angela; Bettecken, Thomas; Bencic, Goran; Gieger, Christian; Wichmann, H.-Erich; Wilson, James F.; Venturini, Cristina; Fleck, Brian; Cumberland, Phillippa M.; Rahi, Jugnoo S.; Hammond, Chris J.; Hayward, Caroline; Wright, Alan F.; Paterson, Andrew D.; Baird, Paul N.; Klaver, Caroline C. W.; Rotter, Jerome I.; Pirastu, Mario; Meitinger, Thomas; Bailey-Wilson, Joan E.; Stambolian, Dwight/titolo:Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci/doi:10.1371%2Fjournal.pone.0107110/rivista:PloS one/anno:2014/pagina_da:/pagina_a:/intervallo_pagine:/volume:9
PLoS ONE 9:e107110 (2014)
PLoS ONE, Vol 9, Iss 9, p e107110 (2014)
PLoS ONE
PLoS One (print), 9(9). Public Library of Science

مصطلحات موضوعية: Male, Linkage disequilibrium, Refractive error, genetic structures, Epidemiology, Genome-wide association study, Plant Science, Eye, Linkage Disequilibrium, ASSOCIATION SCANS, MULTIPLE, Medicine and Health Sciences, Myopia, 80 and over, 2.1 Biological and endogenous factors, Aetiology, Age of Onset, FAMILIAL AGGREGATION, Genetics, Aged, 80 and over, Multidisciplinary, AUSTRALIAN SCHOOL-CHILDREN, COMMON VARIANTS, Single Nucleotide, Middle Aged, RETINAL-PIGMENT EPITHELIUM, OUTDOOR ACTIVITY, Hyperopia, Phenotype, Genetic Epidemiology, Medicine, Female, Research Article, Genetic Markers, Adult, General Science & Technology, Science, DCCT/EDIC Research Group, European Continental Ancestry Group, Locus (genetics), Single-nucleotide polymorphism, and over, Biology, Disease Surveillance, Polymorphism, Single Nucleotide, White People, medicine, Genome-Wide Association Studies, Humans, Inherited Eye Disorders, Genetic Predisposition to Disease, Allele, Polymorphism, Eye Disease and Disorders of Vision, Alleles, Genetic Association Studies, Aged, Whites, Human Genome, Biology and Life Sciences, Computational Biology, Human Genetics, Heritability, Plant Pathology, medicine.disease, Genome Analysis, GENE, eye diseases, Ophthalmology, REFRACTIVE ERROR, Genetics of Disease, LINKAGE-DISEQUILIBRIUM, Age of onset

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf1f3a0f188831b1d269313e2763cd51
https://www.pure.ed.ac.uk/ws/files/16988453/Genome_Wide_Meta_Analysis_of_Myopia_and_Hyperopia_Provides_Evidence_for_Replication_of_11_Loci.pdf

المؤلفون: Alison D. Duncan, A. E. Cooper, András M. Komáromy, Saija Ahonen, Pä Ivi Vanhapelto, Hannes Lohi, Jessica Rowlan, Eija H. Seppälä

المساهمون: Departments of Faculty of Veterinary Medicine, Veterinary Biosciences, Veterinary Genetics, Research Programs Unit, Research Programme for Molecular Neurology, Research Programme of Molecular Medicine, Faculty of Veterinary Medicine

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 9, p e106610 (2014)

مصطلحات موضوعية: Retinal degeneration, Male, Veterinary Ophthalmology, Pathology, genetic structures, lcsh:Medicine, CONE-ROD DYSTROPHY, 413 Veterinary science, chemistry.chemical_compound, ANIMAL-MODEL, Medicine and Health Sciences, Dog Diseases, lcsh:Science, Mammals, Progressive retinal atrophy, Multidisciplinary, Pets and Companion Animals, Retinal Degeneration, DEGENERATION, Pedigree, medicine.anatomical_structure, Phenotype, Vertebrates, Disease Progression, Retinal Disorders, Female, Research Article, Veterinary Medicine, medicine.medical_specialty, Retinal Disorder, Animal Types, education, Dogs, Retinal Diseases, Ophthalmology, Retinitis pigmentosa, RETINITIS-PIGMENTOSA, medicine, Electroretinography, Animals, Inherited Eye Disorders, NONSENSE MUTATION, ACHROMATOPSIA, Retinopathy, Sweden, Retina, Retinal pigment epithelium, business.industry, DELETION, lcsh:R, Organisms, GENE-THERAPY, Biology and Life Sciences, Correction, Retinal, Macular degeneration, medicine.disease, VITAMIN-E-DEFICIENCY, eye diseases, CANINE MULTIFOCAL RETINOPATHY, chemistry, lcsh:Q, Veterinary Science, sense organs, 3111 Biomedicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::815b9f230fdc415109df16843045f7b7
http://hdl.handle.net/10138/160776

المؤلفون: Yani Liu, Xiaoxing Liu, Xue Chen, Kanxing Zhao, Xunlun Sheng, Huiping Li, Wenzhou Liu, Weining Rong, Shaoping Ha, Xiaoli Kang, Chen Zhao

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 8, p e105439 (2014)

مصطلحات موضوعية: Adult, Male, Usher syndrome, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, lcsh:Medicine, Pedigree chart, medicine.disease_cause, Young Adult, Asian People, Genotype, Retinitis pigmentosa, medicine, Medicine and Health Sciences, Missense mutation, Humans, Inherited Eye Disorders, Nonsyndromic deafness, Amino Acid Sequence, lcsh:Science, Genetics, Mutation, Extracellular Matrix Proteins, Multidisciplinary, business.industry, lcsh:R, Retinitis, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Pedigree, Ophthalmology, Phenotype, Retinal Disorders, lcsh:Q, Female, business, Sequence Alignment, Usher Syndromes, Retinitis Pigmentosa, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::967fc1e224df6f61b21cb84f1cb0f38f
http://europepmc.org/articles/PMC4136877

المؤلفون: Alan Shiels, Thomas M. Bennett, Donna S. Mackay, Carla J. Siegfried

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 8, p e104000 (2014)

مصطلحات موضوعية: Male, Eye Diseases, Genetic Linkage, Gene Identification and Analysis, Gene Expression, Exon, 0302 clinical medicine, Genes, Reporter, Medicine and Health Sciences, Missense mutation, Exome, Genetics, 0303 health sciences, Multidisciplinary, Exons, Pedigree, Medicine, Female, Chromosomes, Human, Pair 9, Research Article, Adult, Science, Green Fluorescent Proteins, Molecular Sequence Data, Mutation, Missense, TRPM Cation Channels, Locus (genetics), Biology, Cataract, Molecular Genetics, 03 medical and health sciences, Genetic linkage, Lens, Crystalline, TRPM3, Humans, Inherited Eye Disorders, Amino Acid Sequence, Codon, Gene, 030304 developmental biology, Base Sequence, Alternative splicing, Biology and Life Sciences, Human Genetics, Glaucoma, Ophthalmology, Alternative Splicing, HEK293 Cells, Amino Acid Substitution, Lens Disorders, Genetics of Disease, 030221 ophthalmology & optometry, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2fdf4308d280308c8605f1242553690
http://europepmc.org/articles/PMC4121231

المؤلفون: András M. Komáromy, Christine Harman, Forrest D. Nussdorfer, Maria Kaukonen, Saija Ahonen, Hannes Lohi

المساهمون: Departments of Faculty of Veterinary Medicine, Veterinary Biosciences, Veterinary Genetics, Research Programs Unit, Research Programme for Molecular Neurology

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 11, p e111941 (2014)

مصطلحات موضوعية: Intraocular pressure, Eye Diseases, genetic structures, DNA Mutational Analysis, WEILL-MARCHESANI-SYNDROME, Glaucoma, lcsh:Medicine, 413 Veterinary science, Blindness, INTRAOCULAR-PRESSURE, Optic neuropathy, MOLECULAR-GENETICS, 0302 clinical medicine, ADAMTS Proteins, Medicine and Health Sciences, Missense mutation, Dog Diseases, lcsh:Science, Genetics, Visual Impairments, 0303 health sciences, Multidisciplinary, CLOSURE GLAUCOMA, MARFAN-SYNDROME, Weill–Marchesani syndrome, 3. Good health, Pedigree, Neurology, Research Article, medicine.medical_specialty, Open angle glaucoma, Missense Mutation, Mutation, Missense, Biology, Retinal ganglion, 03 medical and health sciences, PECTINATE LIGAMENT DYSPLASIA, Dogs, Genetic Disorders, Ophthalmology, medicine, Animals, Mammalian Genetics, Inherited Eye Disorders, 3125 Otorhinolaryngology, ophthalmology, GENOME-WIDE ASSOCIATION, Genetic Association Studies, 030304 developmental biology, IRIDOCORNEAL ANGLE, INHERITED GLAUCOMA, Genetic heterogeneity, lcsh:R, Biology and Life Sciences, Correction, medicine.disease, PRIMARY OPEN-ANGLE, eye diseases, ADAM Proteins, Genetics of Disease, Mutation, 030221 ophthalmology & optometry, Neuro-Ophthalmology, lcsh:Q, sense organs, Animal Genetics, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::334bd87cc0a8023b095cd719eb35bb66
https://pubmed.ncbi.nlm.nih.gov/25689863

المؤلفون: Alyssa Cornet, Serge Brédart, Jean-Marie Rakic

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 5, p e98757 (2014)

مصطلحات موضوعية: Adult, Male, genetic structures, Adolescent, Color vision, Cognitive Neuroscience, lcsh:Medicine, Social Sciences, Color, Color Vision Defects, Luminance, Young Adult, Memory, Medicine and Health Sciences, Psychology, Humans, Inherited Eye Disorders, lcsh:Science, Applied Psychology, Recognition memory, Multidisciplinary, business.industry, lcsh:R, Cognitive Psychology, Biology and Life Sciences, Pattern recognition, Experimental Psychology, Recognition, Psychology, Middle Aged, Response bias, Ophthalmology, Positive response, Colored, Pattern Recognition, Visual, Pattern recognition (psychology), Cognitive Science, lcsh:Q, Female, Artificial intelligence, business, Color Perception, Photic Stimulation, Research Article, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8938c52578c669a050e40072a467d6ce
http://europepmc.org/articles/PMC4039530

المؤلفون: John H. Wilson, Alecia K. Gross, Brandee A. Price, Ivette M. Sandoval, Joshua D. Sammons, Fung Chan, Theodore G. Wensel

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 9, p e108135 (2014)

مصطلحات موضوعية: Retinal degeneration, Aging, genetic structures, Cellular differentiation, lcsh:Medicine, Biochemistry, Green fluorescent protein, Mice, 0302 clinical medicine, Mutant protein, Retinal Rod Photoreceptor Cells, Nucleic Acids, Neurobiology of Disease and Regeneration, Medicine and Health Sciences, Gene Knock-In Techniques, lcsh:Science, Cells, Cultured, Genetics, 0303 health sciences, Multidisciplinary, biology, Retinal Degeneration, Gene Expression Regulation, Developmental, Cell Differentiation, Nonsense Mutation, Neurodegenerative Diseases, Stop codon, Sensory Systems, Cell biology, Neurology, Rhodopsin, Retinal Disorders, Retinitis Pigmentosa, Research Article, Transcriptional Activation, Green Fluorescent Proteins, DNA repair, Retina, Molecular Genetics, 03 medical and health sciences, Retinitis pigmentosa, medicine, Congenital Disorders, Animals, Humans, Point Mutation, Gene Disruption, Inherited Eye Disorders, Gene, Molecular Biology, 030304 developmental biology, Biology and life sciences, lcsh:R, Retinitis, Radiobiology, DNA, Molecular Development, medicine.disease, Mice, Inbred C57BL, Disease Models, Animal, Ophthalmology, Microscopy, Fluorescence, Mutagenesis, Mutation, Genetics of Disease, biology.protein, DNA damage, Somatic Mutation, lcsh:Q, sense organs, Molecular Neuroscience, 030217 neurology & neurosurgery, Developmental Biology, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4764e11c7bd804b3e6f47e92f69827b9
https://pubmed.ncbi.nlm.nih.gov/25264759

المؤلفون: Zhi-Qing Chen, Zhao-an Su, Qi Miao, Jinfu Yin, Yao Wang, Houfa Yin, Chongfei Jin, Yingying Zhao, Panpan Ye, Xiaoyun Fang

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 4, p e94960 (2014)

مصطلحات موضوعية: Male, DNA Mutational Analysis, lcsh:Medicine, Gene mutation, medicine.disease_cause, Polymerase Chain Reaction, Exon, Cytochrome P-450 Enzyme System, Genotype, Medicine and Health Sciences, Missense mutation, lcsh:Science, Genetics, Corneal Dystrophies, Hereditary, Mutation, Multidisciplinary, Genomics, Middle Aged, Chinese people, Pedigree, Phenotype, embryonic structures, Retinal Disorders, Female, Genetic Dominance, Research Article, Adult, China, animal structures, Molecular Sequence Data, Mutation, Missense, Biology, Young Adult, Genomic Medicine, Asian People, Retinal Diseases, medicine, Humans, Inherited Eye Disorders, Genetic Testing, Amino Acid Sequence, Cytochrome P450 Family 4, Allele, Genetic Association Studies, Clinical Genetics, Family Health, Autosomal Recessive Traits, Sequence Homology, Amino Acid, lcsh:R, Biology and Life Sciences, Human Genetics, Choroidal Neovascularization, genomic DNA, Ophthalmology, Macular Disorders, Genetics of Disease, lcsh:Q

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf0580a73aa8a63f5076fb6dbcef4529
http://europepmc.org/articles/PMC3989252

المؤلفون: Kei Shinoda, Shinji Ueno, Yuri V. Sergeev, Naomichi Matsumoto, Kazuki Kuniyoshi, Masakazu Akahori, Yohinori Tsurusaki, Masaaki Furuno, Kazushige Tsunoda, Mineo Kondo, Takeshi Iwata, Satoshi Katagiri, Hiroshi Tsuneoka, Takaaki Hayashi, Kazuho Ikeo, Kazutoshi Yoshitake

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 9, p e108721 (2014)

مصطلحات موضوعية: Oncology, Male, Mutation rate, Genetic Screens, genetic structures, Gene Identification and Analysis, lcsh:Medicine, Gene mutation, medicine.disease_cause, Mutation Rate, Medicine and Health Sciences, Exome, lcsh:Science, Frameshift Mutation, Exome sequencing, Genetics, Mutation, Extracellular Matrix Proteins, Multidisciplinary, Insertion Mutation, Homozygote, Retinal Degeneration, High-Throughput Nucleotide Sequencing, Nonsense Mutation, Exons, Middle Aged, Germline Mutation, Pedigree, Phosphotransferases (Alcohol Group Acceptor), Retinal Disorders, Female, Retinitis Pigmentosa, Research Article, Adult, medicine.medical_specialty, Missense Mutation, Molecular Sequence Data, Cyclic Nucleotide-Gated Cation Channels, Genes, Recessive, Biology, Frameshift mutation, Asian People, Genetic Disorders, Internal medicine, Retinitis pigmentosa, medicine, Humans, Point Mutation, Inherited Eye Disorders, Eye Proteins, Genetic Association Studies, Aged, Base Sequence, Haplotype, lcsh:R, Retinitis, Biology and Life Sciences, Human Genetics, medicine.disease, eye diseases, Ophthalmology, Genetics of Disease, lcsh:Q, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a2585a78a14792a091f12ecf502c5a4
https://pubmed.ncbi.nlm.nih.gov/25268133

المؤلفون: Haghighi, Alireza, Tiwari, Amit, Piri, Niloofar, Nürnberg, Gudrun, Saleh-Gohari, Nasrollah, Haghighi, Amirreza, Neidhardt, John, Nürnberg, Peter, Berger, Wolfgang

مصطلحات موضوعية: Biology and life sciences, Computational Biology, Genome Analysis, Transcriptome Analysis, Next-Generation Sequencing, Genetics, Genomics, Human Genomics, Heredity, Genetic Linkage, Autosomal Linkage, Chromosomal Inheritance, Homozygosity, Mutation, Frameshift Mutation, Molecular Genetics, Molecular biology, Molecular biology techniques, Sequencing techniques, DNA sequencing, Dideoxy DNA sequencing, High Throughput Sequencing, Medicine and Health Sciences, Ophthalmology, Retinal Disorders, Retinal Degeneration, Visual Impairments, Blindness, Myopia, Inherited Eye Disorders

وصف الملف: application/pdf

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231049/pdf/; PLoS ONE; Haghighi, Alireza, Amit Tiwari, Niloofar Piri, Gudrun Nürnberg, Nasrollah Saleh-Gohari, Amirreza Haghighi, John Neidhardt, Peter Nürnberg, and Wolfgang Berger. 2014. “Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome.” PLoS ONE 9 (11): e112747. doi:10.1371/journal.pone.0112747. http://dx.doi.org/10.1371/journal.pone.0112747.; http://nrs.harvard.edu/urn-3:HUL.InstRepos:13454758

الاتاحة: http://nrs.harvard.edu/urn-3:HUL.InstRepos:13454758
https://doi.org/10.1371/journal.pone.0112747

المؤلفون: Wanphen Katanyoo, Sakdithep Chaiyarit, Takeshi Tomonaga, Chayanon Peerapittayamongkol, Masayoshi Kuwano, Aung Win Tun, Patcharee Lertrit, Visith Thongboonkerd, Wanicha Chuenkongkaew, Supannee Kaewsutthi

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 9, p e106779 (2014)

مصطلحات موضوعية: Adult, Male, Proteomics, Mitochondrial DNA, Proteome, Biopsy, Blotting, Western, lcsh:Medicine, Down-Regulation, Optic Atrophy, Hereditary, Leber, Biology, Mitochondrion, Retinal ganglion, Biochemistry, Mitochondrial Proteins, Young Adult, Western blot, medicine, Medicine and Health Sciences, Humans, Family, Inherited Eye Disorders, lcsh:Science, Databases, Protein, Genetics, Multidisciplinary, medicine.diagnostic_test, lcsh:R, Leber's hereditary optic neuropathy, Reproducibility of Results, Biology and Life Sciences, Fibroblasts, Middle Aged, medicine.disease, Thailand, Penetrance, Mitochondria, Ophthalmology, Case-Control Studies, Mutation, Retinal Disorders, lcsh:Q, Female, Energy Metabolism, Subcellular Fractions, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f57d5f99592ef27823d2d7f94438db7
https://pubmed.ncbi.nlm.nih.gov/25215595

المؤلفون: Alan Zhang, Anne K. Hennig, Julie Huecker, Nicholas M. Tran, Xiaodong Zhang, Shiming Chen

المصدر: PLoS Genetics, Vol 10, Iss 2, p e1004111 (2014)
PLoS Genetics

مصطلحات موضوعية: Retinal degeneration, Cancer Research, Mouse, genetic structures, Visual System, Mutant, Leber Congenital Amaurosis, Mice, 0302 clinical medicine, Molecular cell biology, Neurobiology of Disease and Regeneration, Frameshift Mutation, Genetics (clinical), Genetics, 0303 health sciences, Homozygote, Retinal Degeneration, Genomics, Animal Models, Sensory Systems, Phenotype, Retinal Cone Photoreceptor Cells, Medicine, Retinal Disorders, Retinitis Pigmentosa, Research Article, lcsh:QH426-470, DNA transcription, Biology, Frameshift mutation, Molecular Genetics, 03 medical and health sciences, Model Organisms, Genetic Mutation, Retinitis pigmentosa, medicine, Animals, Humans, Gene Regulation, Inherited Eye Disorders, Molecular Biology, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Homeodomain Proteins, Point mutation, Wild type, Dystrophy, medicine.disease, Molecular biology, Ophthalmology, Disease Models, Animal, lcsh:Genetics, Genetics of Disease, 030221 ophthalmology & optometry, Trans-Activators, Homeobox, Gene expression, sense organs, Gene Function, Genome Expression Analysis, Animal Genetics, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::006dd14775ef334cbd1e5272e0cf822b
http://europepmc.org/articles/PMC3916252?pdf=render

المؤلفون: Toshihiro Inoue, Yukio Ando, Hidenobu Tanihara, Daisuke Eiki, Takahiro Kawaji, Ryuhei Hara

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 5, p e96324 (2014)

مصطلحات موضوعية: Male, Intraocular pressure, genetic structures, Eye Diseases, medicine.medical_treatment, Visual Acuity, Glaucoma, lcsh:Medicine, Kaplan-Meier Estimate, Blister, Medicine and Health Sciences, Trabeculectomy, Prealbumin, lcsh:Science, Multidisciplinary, biology, Middle Aged, Treatment Outcome, Female, Polyneuropathy, Retinopathy, Research Article, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Mitomycin, Polyneuropathies, medicine, Humans, Inherited Eye Disorders, Intraocular Pressure, Aged, Retrospective Studies, business.industry, lcsh:R, nutritional and metabolic diseases, Retrospective cohort study, medicine.disease, digestive system diseases, eye diseases, Surgery, Transthyretin, Ophthalmology, biology.protein, lcsh:Q, sense organs, Complication, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f7dcf8b709a34d4da047a8fadf584c6
https://pubmed.ncbi.nlm.nih.gov/24802803

المؤلفون: Cristina Méndez-Vidal, Joaquín Dopazo, Salud Borrego, María González del Pozo, Guillermo Antiñolo, Alicia Vela-Boza, Nereida Bravo-Gil

المساهمون: Universidad de Sevilla. Departamento de Cirugía

المصدر: idUS: Depósito de Investigación de la Universidad de Sevilla
Universidad de Sevilla (US)
PLoS ONE
PLoS ONE, Vol 9, Iss 12, p e116176 (2014)
idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Plos One
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)

مصطلحات موضوعية: Molecular biology, Gene Identification and Analysis, lcsh:Medicine, ABCA4, Sequencing techniques, Medicine and Health Sciences, High throughput sequencing, DNA sequencing, lcsh:Science, Frameshift Mutation, Exome, Exome sequencing, Genetics, Sanger sequencing, Multidisciplinary, biology, Nonsense Mutation, Genomics, Mutation (genetic algorithm), symbols, Transcriptome Analysis, Retinitis Pigmentosa, Research Article, Next-Generation Sequencing, Missense Mutation, Direct sequencing, Genetic Counseling, Research and Analysis Methods, Human Genomics, symbols.namesake, Genetic Disorders, Genomic Medicine, Retinitis pigmentosa, medicine, Inherited Eye Disorders, Mutation Detection, Clinical Genetics, Biology and life sciences, lcsh:R, Computational Biology, medicine.disease, Genome Analysis, Human genetics, eye diseases, Stargardt disease, Ophthalmology, Molecular biology techniques, Genetics of Disease, Mutation, biology.protein, lcsh:Q

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::425fc696d8d40525d5c709bcc9adca1f

المؤلفون: Bethlehem, Richard A I, Dumoulin, Serge O., Dalmaijer, Edwin S., Smit, Miranda, Berendschot, Tos T J M, Nijboer, Tanja C W, Van Der Stigchel, Stefan, Afd Psychologische functieleer, Experimental Psychology (onderzoeksprogramma PF), Helmholtz Institute, Leerstoel Postma, Leerstoel Dumoulin, Leerstoel Dijkerman

المساهمون: Oogheelkunde, RS: NUTRIM - R1 - Metabolic Syndrome, RS: MHeNs - R3 - Neuroscience, Afd Psychologische functieleer, Experimental Psychology (onderzoeksprogramma PF), Helmholtz Institute, Leerstoel Postma, Leerstoel Dumoulin, Leerstoel Dijkerman

المصدر: PLoS ONE, Vol 9, Iss 6, p e100171 (2014)
PLoS One, 9(6). Public Library of Science
PLOS ONE, 9(6):e100171. Public Library of Science
PLoS ONE

مصطلحات موضوعية: Male, Visual acuity, genetic structures, Visual System, Vision, Social Sciences, Biochemistry, Macular Degeneration, chemistry.chemical_compound, Fovea centralis, Foveal, STARGARDT-DISEASE, Medicine and Health Sciences, Psychology, Stargardt Disease, Scotoma, Medicine(all), Multidisciplinary, Agricultural and Biological Sciences(all), ECCENTRIC FIXATION, Experimental Psychology, Middle Aged, Prognosis, Sensory Systems, medicine.anatomical_structure, Medicine, Sensory Perception, Female, Anatomy, medicine.symptom, REORGANIZATION, Research Article, Adult, medicine.medical_specialty, Science, Fixation, Ocular, Macular denegration, Young Adult, CENTRAL VISION, Ocular System, Neuropsychology, Ophthalmology, Mental Health and Psychiatry, Psychophysics, medicine, LOCUS, Humans, Inherited Eye Disorders, CENTRAL SCOTOMAS, MONOCULAR FIXATION, business.industry, Biochemistry, Genetics and Molecular Biology(all), Lasers, Biology and Life Sciences, Eye movement, Retinal, Macular degeneration, medicine.disease, eye diseases, Stargardt disease, SCANNING LASER OPHTHALMOSCOPE, Eye movements, chemistry, Macular Disorders, Case-Control Studies, Fixation (visual), PATTERNS, Visual Field Tests, Eyes, sense organs, EYE-MOVEMENTS, business, Neuroscience, Follow-Up Studies, Genetics and Molecular Biology(all)

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe9f82c2c0e70e0e5ca4d3aa8ecbeb4f
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24937090/?tool=EBI

المؤلفون: Nikolai O. Artemyev, Gaël Manes, Philippe Brabet, Audrey Sénéchal, Anurima Majumder, Christian P. Hamel, Pallavi Cheguru, Béatrice Bocquet

المصدر: PLoS ONE, Vol 9, Iss 4, p e95768 (2014)
PLoS ONE

مصطلحات موضوعية: Visual System, Agricultural Biotechnology, Xenopus, lcsh:Medicine, Biochemistry, Animals, Genetically Modified, Xenopus laevis, Night Blindness, Catalytic Domain, Medicine and Health Sciences, Myopia, lcsh:Science, GNAT1, Multidisciplinary, Genetically Modified Organisms, Agriculture, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Animal Models, Heterotrimeric GTP-Binding Proteins, Sensory Systems, Rhodopsin, Vertebrates, Frogs, Retinal Disorders, Transducin, Transgenic Animals, Research Article, Visual phototransduction, Light Signal Transduction, Nonsense mutation, Biology, Research and Analysis Methods, Frameshift mutation, Amphibians, Model Organisms, PDE6B, Retinitis pigmentosa, Genetics, medicine, Animals, Humans, Inherited Eye Disorders, Cyclic Nucleotide Phosphodiesterases, Type 6, lcsh:R, Organisms, Biology and Life Sciences, Proteins, medicine.disease, Molecular biology, Ophthalmology, Mutation, biology.protein, lcsh:Q, sense organs, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02a682fa895aa3648d9a25b9de11b5d5
http://europepmc.org/articles/PMC3997432?pdf=render