Kari Branham

Kari Branham

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Kari Branham

Kari Branham

Publications by authors named "Kari Branham"

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Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.

Genet Med 2019 03 3;21(3):694-704. Epub 2018 Aug 3.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/s41436-018-0104-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399075PMC
March 2019

Contrast sensitivity deficits in patients with mutation-proven inherited retinal degenerations.

BMC Ophthalmol 2018 Dec 7;18(1):313. Epub 2018 Dec 7.

Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, 48150, USA.

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http://dx.doi.org/10.1186/s12886-018-0982-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286564PMC
December 2018

Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.

Ophthalmic Genet 2018 10 21;39(5):615-618. Epub 2018 Aug 21.

a Kellogg Eye Center, Department of Ophthalmology and Visual Sciences , University of Michigan , Ann Arbor , MI , USA.

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http://dx.doi.org/10.1080/13816810.2018.1509355DOI Listing
October 2018

Peripheral Pigmented Retinal Lesions in Stargardt Disease.

Am J Ophthalmol 2018 04 27;188:104-110. Epub 2017 Dec 27.

W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2017.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994923PMC
April 2018

Reliability of kinetic visual field testing in children with mutation-proven retinal dystrophies: Implications for therapeutic clinical trials.

Ophthalmic Genet 2018 Jan-Feb;39(1):22-28. Epub 2017 Jul 13.

a Department of Ophthalmology and Visual Sciences , W. K. Kellogg Eye Center, University of Michigan Medical School , Ann Arbor , Michigan , USA.

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http://dx.doi.org/10.1080/13816810.2017.1329447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938742PMC
March 2018

Double hyperautofluorescent ring on fundus autofluorescence in ABCA4.

Ophthalmic Genet 2018 Jan-Feb;39(1):87-91. Epub 2017 Jul 20.

a Department of Ophthalmology and Visual Sciences , University of Michigan Medical School , Ann Arbor , Michigan , USA.

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http://dx.doi.org/10.1080/13816810.2017.1335330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5950710PMC
March 2018

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

Invest Ophthalmol Vis Sci 2017 08;58(10):3840-3850

Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland 11Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland 12Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1167/iovs.17-21597DOI Listing
August 2017

A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.

Invest Ophthalmol Vis Sci 2017 05;58(5):2774-2784

Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, Texas, United States 5Ruiz Department of Ophthalmology and Visual Science, McGovern Medical School, The University of Texas Health Science Center, Houston, Texas, United States.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.16-21341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5455168PMC
May 2017

Prevalence of Antiretinal Antibodies in Acute Zonal Occult Outer Retinopathy: A Comprehensive Review of 25 Cases.

Am J Ophthalmol 2017 Apr 18;176:210-218. Epub 2016 Dec 18.

Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2016.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6605038PMC
April 2017

A reference panel of 64,976 haplotypes for genotype imputation.

Authors:
Shane McCarthy Sayantan Das Warren Kretzschmar Olivier Delaneau Andrew R Wood Alexander Teumer Hyun Min Kang Christian Fuchsberger Petr Danecek Kevin Sharp Yang Luo Carlo Sidore Alan Kwong Nicholas Timpson Seppo Koskinen Scott Vrieze Laura J Scott He Zhang Anubha Mahajan Jan Veldink Ulrike Peters Carlos Pato Cornelia M van Duijn Christopher E Gillies Ilaria Gandin Massimo Mezzavilla Arthur Gilly Massimiliano Cocca Michela Traglia Andrea Angius Jeffrey C Barrett Dorrett Boomsma Kari Branham Gerome Breen Chad M Brummett Fabio Busonero Harry Campbell Andrew Chan Sai Chen Emily Chew Francis S Collins Laura J Corbin George Davey Smith George Dedoussis Marcus Dorr Aliki-Eleni Farmaki Luigi Ferrucci Lukas Forer Ross M Fraser Stacey Gabriel Shawn Levy Leif Groop Tabitha Harrison Andrew Hattersley Oddgeir L Holmen Kristian Hveem Matthias Kretzler James C Lee Matt McGue Thomas Meitinger David Melzer Josine L Min Karen L Mohlke John B Vincent Matthias Nauck Deborah Nickerson Aarno Palotie Michele Pato Nicola Pirastu Melvin McInnis J Brent Richards Cinzia Sala Veikko Salomaa David Schlessinger Sebastian Schoenherr P Eline Slagboom Kerrin Small Timothy Spector Dwight Stambolian Marcus Tuke Jaakko Tuomilehto Leonard H Van den Berg Wouter Van Rheenen Uwe Volker Cisca Wijmenga Daniela Toniolo Eleftheria Zeggini Paolo Gasparini Matthew G Sampson James F Wilson Timothy Frayling Paul I W de Bakker Morris A Swertz Steven McCarroll Charles Kooperberg Annelot Dekker David Altshuler Cristen Willer William Iacono Samuli Ripatti Nicole Soranzo Klaudia Walter Anand Swaroop Francesco Cucca Carl A Anderson Richard M Myers Michael Boehnke Mark I McCarthy Richard Durbin

Nat Genet 2016 10 22;48(10):1279-83. Epub 2016 Aug 22.

Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.

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http://dx.doi.org/10.1038/ng.3643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388176PMC
October 2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Authors:
Lars G Fritsche Wilmar Igl Jessica N Cooke Bailey Felix Grassmann Sebanti Sengupta Jennifer L Bragg-Gresham Kathryn P Burdon Scott J Hebbring Cindy Wen Mathias Gorski Ivana K Kim David Cho Donald Zack Eric Souied Hendrik P N Scholl Elisa Bala Kristine E Lee David J Hunter Rebecca J Sardell Paul Mitchell Joanna E Merriam Valentina Cipriani Joshua D Hoffman Tina Schick Yara T E Lechanteur Robyn H Guymer Matthew P Johnson Yingda Jiang Chloe M Stanton Gabriëlle H S Buitendijk Xiaowei Zhan Alan M Kwong Alexis Boleda Matthew Brooks Linn Gieser Rinki Ratnapriya Kari E Branham Johanna R Foerster John R Heckenlively Mohammad I Othman Brendan J Vote Helena Hai Liang Emmanuelle Souzeau Ian L McAllister Timothy Isaacs Janette Hall Stewart Lake David A Mackey Ian J Constable Jamie E Craig Terrie E Kitchner Zhenglin Yang Zhiguang Su Hongrong Luo Daniel Chen Hong Ouyang Ken Flagg Danni Lin Guanping Mao Henry Ferreyra Klaus Stark Claudia N von Strachwitz Armin Wolf Caroline Brandl Guenther Rudolph Matthias Olden Margaux A Morrison Denise J Morgan Matthew Schu Jeeyun Ahn Giuliana Silvestri Evangelia E Tsironi Kyu Hyung Park Lindsay A Farrer Anton Orlin Alexander Brucker Mingyao Li Christine A Curcio Saddek Mohand-Saïd José-Alain Sahel Isabelle Audo Mustapha Benchaboune Angela J Cree Christina A Rennie Srinivas V Goverdhan Michelle Grunin Shira Hagbi-Levi Peter Campochiaro Nicholas Katsanis Frank G Holz Frédéric Blond Hélène Blanché Jean-François Deleuze Robert P Igo Barbara Truitt Neal S Peachey Stacy M Meuer Chelsea E Myers Emily L Moore Ronald Klein Michael A Hauser Eric A Postel Monique D Courtenay Stephen G Schwartz Jaclyn L Kovach William K Scott Gerald Liew Ava G Tan Bamini Gopinath John C Merriam R Theodore Smith Jane C Khan Humma Shahid Anthony T Moore J Allie McGrath Reneé Laux Milam A Brantley Anita Agarwal Lebriz Ersoy Albert Caramoy Thomas Langmann Nicole T M Saksens Eiko K de Jong Carel B Hoyng Melinda S Cain Andrea J Richardson Tammy M Martin John Blangero Daniel E Weeks Bal Dhillon Cornelia M van Duijn Kimberly F Doheny Jane Romm Caroline C W Klaver Caroline Hayward Michael B Gorin Michael L Klein Paul N Baird Anneke I den Hollander Sascha Fauser John R W Yates Rando Allikmets Jie Jin Wang Debra A Schaumberg Barbara E K Klein Stephanie A Hagstrom Itay Chowers Andrew J Lotery Thierry Léveillard Kang Zhang Murray H Brilliant Alex W Hewitt Anand Swaroop Emily Y Chew Margaret A Pericak-Vance Margaret DeAngelis Dwight Stambolian Jonathan L Haines Sudha K Iyengar Bernhard H F Weber Gonçalo R Abecasis Iris M Heid

Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.3448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745342PMC
February 2016

The ophthalmic experience: unanticipated primary findings in the era of next generation sequencing.

J Genet Couns 2014 Aug 8;23(4):588-93. Epub 2014 Jan 8.

Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, 1000 Wall St, 7115 Brehm Tower, Ann Arbor, MI, 48105, USA,

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http://dx.doi.org/10.1007/s10897-013-9679-yDOI Listing
August 2014

Expression of thyrotropin receptor, thyroglobulin, sodium-iodide symporter, and thyroperoxidase by fibrocytes depends on AIRE.

J Clin Endocrinol Metab 2014 Jul 7;99(7):E1236-44. Epub 2014 Apr 7.

Department of Ophthalmology and Visual Sciences (R.F., Y.L., S.J.A., T.M., K.B., T.J.S.), Kellogg Eye Center, and Division of Metabolism, Diabetes, and Endocrinology (T.J.S.), Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan 48105.

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http://dx.doi.org/10.1210/jc.2013-4271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4079309PMC
July 2014

Genetics in ophthalmology.

Authors:
Kari Branham

Insight 2014 ;39(2):5-9: quiz 10

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July 2014

Diagnostic fundus autofluorescence patterns in achromatopsia.

Am J Ophthalmol 2013 Dec 20;156(6):1211-1219.e2. Epub 2013 Aug 20.

Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1016/j.ajo.2013.06.033DOI Listing
December 2013

Seven new loci associated with age-related macular degeneration.

Authors:
Lars G Fritsche Wei Chen Matthew Schu Brian L Yaspan Yi Yu Gudmar Thorleifsson Donald J Zack Satoshi Arakawa Valentina Cipriani Stephan Ripke Robert P Igo Gabriëlle H S Buitendijk Xueling Sim Daniel E Weeks Robyn H Guymer Joanna E Merriam Peter J Francis Gregory Hannum Anita Agarwal Ana Maria Armbrecht Isabelle Audo Tin Aung Gaetano R Barile Mustapha Benchaboune Alan C Bird Paul N Bishop Kari E Branham Matthew Brooks Alexander J Brucker William H Cade Melinda S Cain Peter A Campochiaro Chi-Chao Chan Ching-Yu Cheng Emily Y Chew Kimberly A Chin Itay Chowers David G Clayton Radu Cojocaru Yvette P Conley Belinda K Cornes Mark J Daly Baljean Dhillon Albert O Edwards Evangelos Evangelou Jesen Fagerness Henry A Ferreyra James S Friedman Asbjorg Geirsdottir Ronnie J George Christian Gieger Neel Gupta Stephanie A Hagstrom Simon P Harding Christos Haritoglou John R Heckenlively Frank G Holz Guy Hughes John P A Ioannidis Tatsuro Ishibashi Peronne Joseph Gyungah Jun Yoichiro Kamatani Nicholas Katsanis Claudia N Keilhauer Jane C Khan Ivana K Kim Yutaka Kiyohara Barbara E K Klein Ronald Klein Jaclyn L Kovach Igor Kozak Clara J Lee Kristine E Lee Peter Lichtner Andrew J Lotery Thomas Meitinger Paul Mitchell Saddek Mohand-Saïd Anthony T Moore Denise J Morgan Margaux A Morrison Chelsea E Myers Adam C Naj Yusuke Nakamura Yukinori Okada Anton Orlin M Carolina Ortube Mohammad I Othman Chris Pappas Kyu Hyung Park Gayle J T Pauer Neal S Peachey Olivier Poch Rinki Ratna Priya Robyn Reynolds Andrea J Richardson Raymond Ripp Guenther Rudolph Euijung Ryu José-Alain Sahel Debra A Schaumberg Hendrik P N Scholl Stephen G Schwartz William K Scott Humma Shahid Haraldur Sigurdsson Giuliana Silvestri Theru A Sivakumaran R Theodore Smith Lucia Sobrin Eric H Souied Dwight E Stambolian Hreinn Stefansson Gwen M Sturgill-Short Atsushi Takahashi Nirubol Tosakulwong Barbara J Truitt Evangelia E Tsironi André G Uitterlinden Cornelia M van Duijn Lingam Vijaya Johannes R Vingerling Eranga N Vithana Andrew R Webster H-Erich Wichmann Thomas W Winkler Tien Y Wong Alan F Wright Diana Zelenika Ming Zhang Ling Zhao Kang Zhang Michael L Klein Gregory S Hageman G Mark Lathrop Kari Stefansson Rando Allikmets Paul N Baird Michael B Gorin Jie Jin Wang Caroline C W Klaver Johanna M Seddon Margaret A Pericak-Vance Sudha K Iyengar John R W Yates Anand Swaroop Bernhard H F Weber Michiaki Kubo Margaret M Deangelis Thierry Léveillard Unnur Thorsteinsdottir Jonathan L Haines Lindsay A Farrer Iris M Heid Gonçalo R Abecasis

Nat Genet 2013 Apr 3;45(4):433-9, 439e1-2. Epub 2013 Mar 3.

Institute of Human Genetics, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.2578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739472PMC
April 2013

Clinical phenotypes and prognostic full-field electroretinographic findings in Stargardt disease.

Am J Ophthalmol 2013 Mar 5;155(3):465-473.e3. Epub 2012 Dec 5.

Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI 48105, USA.

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http://dx.doi.org/10.1016/j.ajo.2012.09.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4494104PMC
March 2013

Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy.

Doc Ophthalmol 2012 Dec 19;125(3):229-33. Epub 2012 Aug 19.

Kellogg Eye Center, University of Michigan Medical Center, Ann Arbor, MI, 48105, USA.

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http://dx.doi.org/10.1007/s10633-012-9350-1DOI Listing
December 2012

E2-2 protein and Fuchs's corneal dystrophy.

N Engl J Med 2010 Sep 25;363(11):1016-24. Epub 2010 Aug 25.

Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1056/NEJMoa1007064DOI Listing
September 2010

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.

Proc Natl Acad Sci U S A 2010 Aug 16;107(35):15523-8. Epub 2010 Aug 16.

Neurobiology-Neurodegeneration and Repair Laboratory, Biological Imaging Core, and Mechanisms of Retinal Diseases Section, Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1073/pnas.1002897107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2932565PMC
August 2010

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.

Arch Ophthalmol 2010 Jul;128(7):915-23

Department of Ophthalmologyand Visual Sciences, Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA.

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http://dx.doi.org/10.1001/archophthalmol.2010.122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3392190PMC
July 2010

Peripapillary dark choroid ring as a helpful diagnostic sign in advanced stargardt disease.

Am J Ophthalmol 2010 Apr 6;149(4):656-660.e2. Epub 2010 Feb 6.

Department of Ophthalmology and Visual Sciences, Medical School, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1016/j.ajo.2009.11.005DOI Listing
April 2010

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

Proc Natl Acad Sci U S A 2010 Apr 12;107(16):7401-6. Epub 2010 Apr 12.

Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1073/pnas.0912702107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2867722PMC
April 2010

Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.

Arch Ophthalmol 2008 Mar;126(3):379-84

Department of Ophthamology and Visual Sciences, University of Illinois, Chicago 60612-7234, USA.

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http://dx.doi.org/10.1001/archophthalmol.2007.72DOI Listing
March 2008

Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene.

Adv Exp Med Biol 2008 ;613:221-7

Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, 930 Madison Avenue, Suite 731, Memphis, TN 38163, USA.

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http://dx.doi.org/10.1007/978-0-387-74904-4_25DOI Listing
February 2008

A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.

Proc Natl Acad Sci U S A 2007 Oct 20;104(41):16227-32. Epub 2007 Sep 20.

Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA.

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http://dx.doi.org/10.1073/pnas.0703933104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1987388PMC
October 2007

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.

Invest Ophthalmol Vis Sci 2007 Oct;48(10):4759-65

Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1167/iovs.07-0453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3178894PMC
October 2007

Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits.

Hum Mol Genet 2007 Oct;16 Spec No. 2:R174-82

Department of Ophthalmology, University of Michigan, Ann Arbor, MI 48105, USA.

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http://dx.doi.org/10.1093/hmg/ddm212DOI Listing
October 2007

Madeline 2.0 PDE: a new program for local and web-based pedigree drawing.

Bioinformatics 2007 Jul 8;23(14):1854-6. Epub 2007 May 8.

Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA.

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http://bioinformatics.oxfordjournals.org/content/23/14/1854.
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http://bioinformatics.oxfordjournals.org/cgi/doi/10.1093/bio
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http://dx.doi.org/10.1093/bioinformatics/btm242DOI Listing
July 2007

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration.

Invest Ophthalmol Vis Sci 2007 Jul;48(7):3283-91

Department of Ophthalmology, University of California, San Francisco School of Medicine, San Francisco, California 94143-0730, USA.

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http://dx.doi.org/10.1167/iovs.06-1422DOI Listing
July 2007

Molecular testing for hereditary retinal disease as part of clinical care.

Arch Ophthalmol 2007 Feb;125(2):252-8

Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA.

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http://dx.doi.org/10.1001/archopht.125.2.252DOI Listing
February 2007

Biomarkers of cardiovascular disease as risk factors for age-related macular degeneration.

Ophthalmology 2005 Dec 12;112(12):2076-80. Epub 2005 Oct 12.

Department of Ophthalmology, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan 48105, USA.

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http://dx.doi.org/10.1016/j.ophtha.2005.07.004DOI Listing
December 2005