المؤلفون: Baas, DC, Ho, Lintje, Tanck, MWT, Fritsche, LG, Merriam, JE, van 't Slot, R, Koeleman, BPC, Gorgels, TGMF (Theo), Duijn, Cornelia, Uitterlinden, André, de Jong, PTVM (Paulus), Hofman, Bert, Brink, JB, Vingerling, Hans, Klaver, Caroline, Dean, M, Weber, BHF, Allikmets, R, Hageman, GS, Bergen, Arthur

المساهمون: Epidemiology, Cell biology, Internal Medicine, Ophthalmology, Pathology

المصدر: Molecular Vision, 18(72), 657-674. Molecular Vision

مصطلحات موضوعية: eye diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::6ad8c5110fa7dcafcfc3d70cec9e10a3
https://pure.eur.nl/en/publications/bbd72046-ed22-41c7-950e-a843a421589c

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المؤلفون: Fritsche LG; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA., Igl W; Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany., Bailey JN; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Grassmann F; Institute of Human Genetics, University of Regensburg, Regensburg, Germany., Sengupta S; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA., Bragg-Gresham JL; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.; Kidney Epidemiology and Cost Center, Department of Internal Medicine-Nephrology, University of Michigan, Ann Arbor, Michigan, USA., Burdon KP; School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia., Hebbring SJ; Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA., Wen C; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Gorski M; Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany., Kim IK; Retina Service, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA., Cho D; Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Zack D; Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Institue de la Vision, Université Pierre et Marie Curie, Paris, France., Souied E; Hôpital Intercommunal de Créteil, Hôpital Henri Mondor, Université Paris Est Créteil, Créteil, France., Scholl HP; Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Ophthalmology, University of Bonn, Bonn, Germany., Bala E; Louis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, Ohio, USA., Lee KE; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA., Hunter DJ; Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.; Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts, USA., Sardell RJ; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA., Mitchell P; Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia., Merriam JE; Department of Ophthalmology, Columbia University, New York, New York, USA., Cipriani V; University College London Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital, London, UK., Hoffman JD; Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Schick T; Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany., Lechanteur YT; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands., Guymer RH; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia., Johnson MP; South Texas Diabetes and Obesity Institute, School of Medicine, University of Texas Rio Grande Valley, Brownsville, Texas, USA., Jiang Y; Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Stanton CM; Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Buitendijk GH; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands., Zhan X; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.; Quantitative Biomedical Research Center, Department of Clinical Science, University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Kwong AM; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA., Boleda A; Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA., Brooks M; Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA., Gieser L; Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA., Ratnapriya R; Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA., Branham KE; Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, USA., Foerster JR; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA., Heckenlively JR; Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, USA., Othman MI; Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan, USA., Vote BJ; School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia., Liang HH; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia., Souzeau E; Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia., McAllister IL; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia., Isaacs T; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia., Hall J; Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia., Lake S; Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia., Mackey DA; School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia.; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia., Constable IJ; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia., Craig JE; Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia, Australia., Kitchner TE; Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA., Yang Z; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.; Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China., Su Z; Molecular Medicine Research Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China., Luo H; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Chen D; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Ouyang H; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Flagg K; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Lin D; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Mao G; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Ferreyra H; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA., Stark K; Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany., von Strachwitz CN; EyeCentre Southwest, Stuttgart, Germany., Wolf A; University Eye Clinic, Ludwig Maximilians University, Munich, Germany., Brandl C; Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.; Institute of Human Genetics, University of Regensburg, Regensburg, Germany.; Department of Ophthalmology, University Hospital Regensburg, Regensburg, Germany., Rudolph G; University Eye Clinic, Ludwig Maximilians University, Munich, Germany., Olden M; Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany., Morrison MA; Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA., Morgan DJ; Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA., Schu M; Department of Medicine (Biomedical Genetics), Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.; Department of Ophthalmology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.; Department of Neurology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.; Department of Epidemiology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.; Department of Biostatistics, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA., Ahn J; Department of Ophthalmology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Republic of Korea., Silvestri G; Centre for Experimental Medicine, Queen's University, Belfast, UK., Tsironi EE; Department of Ophthalmology, University of Thessaly, School of Medicine, Larissa, Greece., Park KH; Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, Republic of Korea., Farrer LA; Department of Medicine (Biomedical Genetics), Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.; Department of Ophthalmology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.; Department of Neurology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.; Department of Epidemiology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.; Department of Biostatistics, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA., Orlin A; Department of Ophthalmology, Weill Cornell Medical College, New York, New York, USA., Brucker A; Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Li M; Department of Biostatistics and Epidemiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Curcio CA; Department of Ophthalmology, University of Alabama at Birmingham, Birmingham, Alabama, USA., Mohand-Saïd S; INSERM, Paris, France.; Institut de la Vision, Department of Genetics, Paris, France.; Centre National de la Recherche Scientifique (CNRS), Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France., Sahel JA; University College London Institute of Ophthalmology, University College London, London, UK.; INSERM, Paris, France.; Institut de la Vision, Department of Genetics, Paris, France.; Centre National de la Recherche Scientifique (CNRS), Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France.; Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.; Académie des Sciences-Institut de France, Paris, France., Audo I; INSERM, Paris, France.; Institut de la Vision, Department of Genetics, Paris, France.; Centre National de la Recherche Scientifique (CNRS), Paris, France.; Department of Molecular Genetics, Institute of Ophthalmology, London, UK., Benchaboune M; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France., Cree AJ; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK., Rennie CA; University Hospital Southampton, Southampton, UK., Goverdhan SV; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK., Grunin M; Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel., Hagbi-Levi S; Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel., Campochiaro P; Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Katsanis N; Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.; Department of Cell Biology, Duke University, Durham, North Carolina, USA.; Department of Pediatrics, Duke University, Durham, North Carolina, USA., Holz FG; Department of Ophthalmology, University of Bonn, Bonn, Germany., Blond F; INSERM, Paris, France.; Institut de la Vision, Department of Genetics, Paris, France.; Centre National de la Recherche Scientifique (CNRS), Paris, France., Blanché H; Centre d'Etude du Polymorphisme Humain (CEPH) Fondation Jean Dausset, Paris, France., Deleuze JF; Centre d'Etude du Polymorphisme Humain (CEPH) Fondation Jean Dausset, Paris, France.; Commissariat à l'Energie Atomique et aux Energies Alternatives (CEA), Institut de Génomique, Centre National de Génotypage, Evry, France., Igo RP Jr; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Truitt B; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Peachey NS; Louis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, Ohio, USA.; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA., Meuer SM; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA., Myers CE; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA., Moore EL; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA., Klein R; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA., Hauser MA; Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA.; Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA.; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, North Carolina, USA., Postel EA; Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA., Courtenay MD; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA., Schwartz SG; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida, USA., Kovach JL; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida, USA., Scott WK; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA., Liew G; Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia., Tan AG; Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia., Gopinath B; Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia., Merriam JC; Department of Ophthalmology, Columbia University, New York, New York, USA., Smith RT; Department of Ophthalmology, Columbia University, New York, New York, USA.; Department of Ophthalmology, New York University School of Medicine, New York, New York, USA., Khan JC; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., Shahid H; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.; Department of Ophthalmology, Cambridge University Hospitals National Health Service (NHS) Foundation Trust, Cambridge, UK., Moore AT; University College London Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital, London, UK.; Department of Ophthalmology, University of California San Francisco Medical School, San Francisco, California, USA., McGrath JA; Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Laux R; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Brantley MA Jr; Department of Ophthalmology and Visual Sciences, Vanderbilt University, Nashville, Tennessee, USA., Agarwal A; Department of Ophthalmology and Visual Sciences, Vanderbilt University, Nashville, Tennessee, USA., Ersoy L; Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany., Caramoy A; Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany., Langmann T; Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany., Saksens NT; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands., de Jong EK; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands., Cain MS; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia., Richardson AJ; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia., Martin TM; Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA., Blangero J; South Texas Diabetes and Obesity Institute, School of Medicine, University of Texas Rio Grande Valley, Brownsville, Texas, USA., Weeks DE; Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Dhillon B; School of Clinical Sciences, University of Edinburgh, Edinburgh, UK., van Duijn CM; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands., Doheny KF; Center for Inherited Disease Research (CIDR) Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Romm J; Center for Inherited Disease Research (CIDR) Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Klaver CC; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands., Hayward C; Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Gorin MB; Department of Ophthalmology, David Geffen School of Medicine, Stein Eye Institute, University of California, Los Angeles, Los Angeles, California, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA., Klein ML; Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA., Baird PN; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia., den Hollander AI; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands., Fauser S; Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany., Yates JR; University College London Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital, London, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., Allikmets R; Department of Ophthalmology, Columbia University, New York, New York, USA.; Department of Pathology and Cell Biology, Columbia University, New York, New York, USA., Wang JJ; Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia., Schaumberg DA; Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.; Center for Translational Medicine, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Division of Preventive Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Klein BE; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA., Hagstrom SA; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA., Chowers I; Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel., Lotery AJ; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK., Léveillard T; INSERM, Paris, France.; Institut de la Vision, Department of Genetics, Paris, France.; Centre National de la Recherche Scientifique (CNRS), Paris, France., Zhang K; Department of Ophthalmology, University of California, San Diego and Veterans Affairs San Diego Health System, La Jolla, California, USA.; Molecular Medicine Research Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China., Brilliant MH; Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA., Hewitt AW; School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia.; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia., Swaroop A; Neurobiology, Neurodegeneration and Repair Laboratory (N-NRL), National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA., Chew EY; Division of Epidemiology and Clinical Applications, Clinical Trials Branch, National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA., Pericak-Vance MA; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA., DeAngelis M; Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA., Stambolian D; Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Haines JL; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.; Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Iyengar SK; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Weber BH; Institute of Human Genetics, University of Regensburg, Regensburg, Germany., Abecasis GR; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA., Heid IM; Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

المصدر: Nature genetics [Nat Genet] 2016 Feb; Vol. 48 (2), pp. 134-43. Date of Electronic Publication: 2015 Dec 21.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genome-Wide Association Study*, Macular Degeneration/*genetics, Genetic Predisposition to Disease ; Humans ; Mutation

المؤلفون: Grassmann F; Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany., Friedrich U, Fauser S, Schick T, Milenkovic A, Schulz HL, von Strachwitz CN, Bettecken T, Lichtner P, Meitinger T, Arend N, Wolf A, Haritoglou C, Rudolph G, Chakravarthy U, Silvestri G, McKay GJ, Freitag-Wolf S, Krawczak M, Smith RT, Merriam JC, Merriam JE, Allikmets R, Heid IM, Weber BH

المصدر: Neuromolecular medicine [Neuromolecular Med] 2015 Jun; Vol. 17 (2), pp. 111-20. Date of Electronic Publication: 2015 Feb 14.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 101135365 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1174 (Electronic) Linking ISSN: 15351084 NLM ISO Abbreviation: Neuromolecular Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies* , Polymorphism, Single Nucleotide*, Eye Proteins/*genetics , Macular Degeneration/*genetics , Membrane Proteins/*genetics, Apoptosis ; Case-Control Studies ; Cell Differentiation ; DNA, Complementary/genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Haplotypes/genetics ; Humans ; Male ; Protein Isoforms/genetics ; Retina/metabolism ; Retina/pathology ; Risk ; Sequence Analysis, DNA ; Sequence Deletion ; Sex Characteristics

المؤلفون: Fung AT; Vitreous-Retina-Macula Consultants of New York and the LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear, and Throat Institute, New York, New York; †Department of Ophthalmology, Columbia University, New York, New York; ‡Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, New York; §Department of Pathology and Cell Biology, Columbia University, New York, New York; ¶Albany Medical Center, Albany, New York; **Department of Ophthalmology, Weill Cornell Medical College, New York, New York; ††Ophthalmology Section, Department of Neuroscience, Polytechnic University of Marche, Ancona, Italy; ‡‡Australian School of Advanced Medicine, Macquarie University Hospital, Sydney, Australia; and §§Save Sight Institute, University of Sydney, Sydney, Australia., Yzer S, Goldberg N, Wang H, Nissen M, Giovannini A, Merriam JE, Bukanova EN, Cai C, Yannuzzi LA, Tsang SH, Allikmets R

المصدر: Retina (Philadelphia, Pa.) [Retina] 2015 Apr; Vol. 35 (4), pp. 773-82.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8309919 Publication Model: Print Cited Medium: Internet ISSN: 1539-2864 (Electronic) Linking ISSN: 0275004X NLM ISO Abbreviation: Retina Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Chloride Channels/*genetics , Eye Diseases, Hereditary/*genetics , Eye Proteins/*genetics , Retinal Diseases/*genetics, Adult ; Bestrophins ; Child ; DNA Mutational Analysis ; Electrooculography ; Electroretinography ; Eye Diseases, Hereditary/diagnosis ; Eye Diseases, Hereditary/physiopathology ; Fluorescein Angiography ; Genes, Recessive ; Humans ; Polymerase Chain Reaction ; Retinal Diseases/diagnosis ; Retinal Diseases/physiopathology ; Tomography, Optical Coherence ; Visual Acuity/physiology

SCR Disease Name: Bestrophinopathy

المؤلفون: Ratnapriya R; Neurobiology Neurodegeneration and Repair Laboratory., Zhan X; Center for Statistical Genetics, Department of Biostatistics and., Fariss RN; Biological Imaging Core., Branham KE; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48109, USA., Zipprer D; Neurobiology Neurodegeneration and Repair Laboratory., Chakarova CF; Department of Genetics, UCL-Institute of Ophthalmology, Bath Street, London EC1V 9EL, UK., Sergeev YV; Ophthalmic Genetics and Visual Function Branch., Campos MM; Biological Imaging Core., Othman M; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48109, USA., Friedman JS; Neurobiology Neurodegeneration and Repair Laboratory., Maminishkis A; Section of Epithelial and Retinal Physiology and Disease., Waseem NH; Department of Genetics, UCL-Institute of Ophthalmology, Bath Street, London EC1V 9EL, UK., Brooks M; Neurobiology Neurodegeneration and Repair Laboratory., Rajasimha HK; Neurobiology Neurodegeneration and Repair Laboratory., Edwards AO; Institute for Molecular Biology, University of Oregon and Oregon Retina, Eugene, OR 97401, USA., Lotery A; Faculty of Medicine, Clinical and Experimental Sciences, University of Southampton, Southampton SO16 6YD, UK., Klein BE; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and, Public Health, Madison, WI 53726, USA., Truitt BJ; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA., Li B; Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA., Schaumberg DA; Division of Preventive Medicine, Brigham and Women's Hospital, Boston, MA 02215, USA, Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA., Morgan DJ; Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA., Morrison MA; Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA., Souied E; Hôpital Intercommunal de Créteil, Hôpital Henri Mondor - Université Paris Est Créteil 94000, France., Tsironi EE; Department of Ophthalmology, University of Thessaly School of Medicine, Larissa, Greece., Grassmann F; Institute of Human Genetics, University of Regensburg, Regensburg 93053, Germany., Fishman GA; Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL 60607, USA., Silvestri G; Centre for Vision and Vascular Science, Queen's University, Belfast, UK., Scholl HP; Wilmer Eye Institute, Johns Hopkins University, 600 N. Wolfe Street, Baltimore, MD 21287, USA., Kim IK; Retina Service and Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA., Ramke J; The Fred Hollows Foundation, Auckland, New Zealand, School of Social Sciences, University of New South Wales, Sydney, Australia., Tuo J; Section of Immunopathology and., Merriam JE; Department of Ophthalmology and., Merriam JC; Department of Ophthalmology and., Park KH; Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul 463-707, Republic of Korea., Olson LM; Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA., Farrer LA; Departments of Medicine (Section of Biomedical Genetics), Ophthalmology and Biostatistics, Neurology, Epidemiology, Boston University Schools of Medicine and Public Health, Boston, MA 02215, USA., Johnson MP; Texas Biomedical Research Institute, San Antonio, TX 78245, USA., Peachey NS; Cleveland Clinic Foundation, Cole Eye Institute, Cleveland, OH 44195, USA, Louis Stokes Cleveland VA Medical Center, Cleveland, OH 44195, USA., Lathrop M; Department of Genetics, Institut de la Vision - Inserm Université Pierre et Marie Curie UMR-S 968, Paris, France., Baron RV; Department of Human Genetics and., Igo RP Jr; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA., Klein R; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and, Public Health, Madison, WI 53726, USA., Hagstrom SA; Cleveland Clinic Foundation, Cole Eye Institute, Cleveland, OH 44195, USA., Kamatani Y; Department of Genetics, Institut de la Vision - Inserm Université Pierre et Marie Curie UMR-S 968, Paris, France., Martin TM; Oregon Health & Science University, Portland, OR 97239, USA., Jiang Y; Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA., Conley Y; Health Promotion and Development, School of Nursing, 440 Victoria Building, 3500 Victoria St, Pittsburgh, PA 15261, USA., Sahel JA; Department of Genetics, Institut de la Vision - Inserm Université Pierre et Marie Curie UMR-S 968, Paris, France., Zack DJ; Wilmer Eye Institute, Johns Hopkins University, 600 N. Wolfe Street, Baltimore, MD 21287, USA., Chan CC; Section of Immunopathology and., Pericak-Vance MA; Bascom Palmer Eye Institute and Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33125, USA., Jacobson SG; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA., Gorin MB; Department of Ophthalmology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA., Klein ML; Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science, University, Portland, OR 97201, USA., Allikmets R; Department of Ophthalmology and Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA., Iyengar SK; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA., Weber BH; Institute of Human Genetics, University of Regensburg, Regensburg 93053, Germany., Haines JL; Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA., Léveillard T; Department of Genetics, Institut de la Vision - Inserm Université Pierre et Marie Curie UMR-S 968, Paris, France., Deangelis MM; Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA., Stambolian D; Department of Ophthalmology, and Department of Genetics, University of Pennsylvania, Philadelphia, PA 9104, USA., Weeks DE; Department of Human Genetics and Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA., Bhattacharya SS; Department of Genetics, UCL-Institute of Ophthalmology, Bath Street, London EC1V 9EL, UK., Chew EY; Clinical Trials Branch, Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Heckenlively JR; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48109, USA., Abecasis GR; Center for Statistical Genetics, Department of Biostatistics and., Swaroop A; Neurobiology Neurodegeneration and Repair Laboratory, swaroopa@nei.nih.gov.

المصدر: Human molecular genetics [Hum Mol Genet] 2014 Nov 01; Vol. 23 (21), pp. 5827-37. Date of Electronic Publication: 2014 Jun 04.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies* , Genetic Variation*, Macular Degeneration/*genetics , Microfilament Proteins/*genetics, Adult ; Aged ; Amino Acid Sequence ; Bruch Membrane/metabolism ; DNA Mutational Analysis ; Exome ; Extracellular Matrix/metabolism ; Fibrillin-2 ; Fibrillins ; High-Throughput Nucleotide Sequencing ; Humans ; Macular Degeneration/diagnosis ; Male ; Meta-Analysis as Topic ; Microfilament Proteins/metabolism ; Middle Aged ; Models, Molecular ; Molecular Sequence Data ; Mutation ; Pedigree ; Protein Conformation ; Protein Stability ; Retina/metabolism ; Retina/pathology ; Sequence Alignment

المؤلفون: Schubert C; Department of Ophthalmology, Columbia University, New York City, New York., Pryds A, Zeng S, Xie Y, Freund KB, Spaide RF, Merriam JC, Barbazetto I, Slakter JS, Chang S, Munch IC, Drack AV, Hernandez J, Yzer S, Merriam JE, Linneberg A, Larsen M, Yannuzzi LA, Mullins RF, Allikmets R

المصدر: Human mutation [Hum Mutat] 2014 Jul; Vol. 35 (7), pp. 859-67.

نوع المنشور: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Cortex Hormones/*pharmacology , Antigens, CD/*genetics , Cadherins/*genetics , Central Serous Chorioretinopathy/*genetics , Gene Expression Regulation/*drug effects, Adolescent ; Adult ; Aged ; Alleles ; Animals ; Antigens, CD/metabolism ; Cadherins/metabolism ; Case-Control Studies ; Cell Line ; Central Serous Chorioretinopathy/metabolism ; Choroid/drug effects ; Choroid/metabolism ; Endothelial Cells/drug effects ; Endothelial Cells/metabolism ; Female ; Gene Frequency ; Genetic Association Studies ; Haplotypes ; Humans ; Intercellular Junctions/ultrastructure ; Linkage Disequilibrium ; Male ; Mice ; Middle Aged ; Polymorphism, Single Nucleotide ; Protein Transport ; Young Adult

المؤلفون: Nong E; Department of Ophthalmology, Columbia University, New York, NY, USA., Lee W, Merriam JE, Allikmets R, Tsang SH

المصدر: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2014 Feb; Vol. 128 (1), pp. 59-67. Date of Electronic Publication: 2013 Dec 19.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Kluwer Country of Publication: Netherlands NLM ID: 0370667 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2622 (Electronic) Linking ISSN: 00124486 NLM ISO Abbreviation: Doc Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Guanylate Cyclase-Activating Proteins/*genetics , Retinitis Pigmentosa/*genetics, Adult ; Aged ; Disease Progression ; Electroretinography ; Exons/genetics ; Female ; Fundus Oculi ; Humans ; Introns/genetics ; Male ; Pedigree ; Photoreceptor Cells, Vertebrate/pathology ; Polymerase Chain Reaction ; Retinitis Pigmentosa/diagnosis ; Visual Acuity/physiology