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Results: 1 to 20 of 46

References for PMC Articles for PubMed (Select 22022419)

1.

Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.

Kopplin LJ, Igo RP Jr, Wang Y, Sivakumaran TA, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, SanGiovanni JP, Chew EY, Pauer GJ, Sturgill GM, Joshi T, Tian L, Xi Q, Henning AK, Lee KE, Klein R, Klein BE, Iyengar SK.

Genes Immun. 2010 Dec;11(8):609-21. doi: 10.1038/gene.2010.39. Epub 2010 Sep 23.

2.

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).

Fritsche LG, Lauer N, Hartmann A, Stippa S, Keilhauer CN, Oppermann M, Pandey MK, Köhl J, Zipfel PF, Weber BH, Skerka C.

Hum Mol Genet. 2010 Dec 1;19(23):4694-704. doi: 10.1093/hmg/ddq399. Epub 2010 Sep 15.

3.

Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent.

Raychaudhuri S, Ripke S, Li M, Neale BM, Fagerness J, Reynolds R, Sobrin L, Swaroop A, Abecasis G, Seddon JM, Daly MJ.

Nat Genet. 2010 Jul;42(7):553-5; author reply 555-6. doi: 10.1038/ng0710-553. No abstract available.

4.

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

Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, Tosakulwong N, Pericak-Vance MA, Campochiaro PA, Klein ML, Tan PL, Conley YP, Kanda A, Kopplin L, Li Y, Augustaitis KJ, Karoukis AJ, Scott WK, Agarwal A, Kovach JL, Schwartz SG, Postel EA, Brooks M, Baratz KH, Brown WL; Complications of Age-Related Macular Degeneration Prevention Trial Research Group, Brucker AJ, Orlin A, Brown G, Ho A, Regillo C, Donoso L, Tian L, Kaderli B, Hadley D, Hagstrom SA, Peachey NS, Klein R, Klein BE, Gotoh N, Yamashiro K, Ferris Iii F, Fagerness JA, Reynolds R, Farrer LA, Kim IK, Miller JW, Cortón M, Carracedo A, Sanchez-Salorio M, Pugh EW, Doheny KF, Brion M, Deangelis MM, Weeks DE, Zack DJ, Chew EY, Heckenlively JR, Yoshimura N, Iyengar SK, Francis PJ, Katsanis N, Seddon JM, Haines JL, Gorin MB, Abecasis GR, Swaroop A.

Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7401-6. doi: 10.1073/pnas.0912702107. Epub 2010 Apr 12.

5.

Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation.

Heinen S, Hartmann A, Lauer N, Wiehl U, Dahse HM, Schirmer S, Gropp K, Enghardt T, Wallich R, Hälbich S, Mihlan M, Schlötzer-Schrehardt U, Zipfel PF, Skerka C.

Blood. 2009 Sep 17;114(12):2439-47. doi: 10.1182/blood-2009-02-205641. Epub 2009 Jun 15.

6.

Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration.

Swaroop A, Chew EY, Rickman CB, Abecasis GR.

Annu Rev Genomics Hum Genet. 2009;10:19-43. doi: 10.1146/annurev.genom.9.081307.164350. Review.

7.

Genotype-imputation accuracy across worldwide human populations.

Huang L, Li Y, Singleton AB, Hardy JA, Abecasis G, Rosenberg NA, Scheet P.

Am J Hum Genet. 2009 Feb;84(2):235-50. doi: 10.1016/j.ajhg.2009.01.013.

8.

A burst of segmental duplications in the genome of the African great ape ancestor.

Marques-Bonet T, Kidd JM, Ventura M, Graves TA, Cheng Z, Hillier LW, Jiang Z, Baker C, Malfavon-Borja R, Fulton LA, Alkan C, Aksay G, Girirajan S, Siswara P, Chen L, Cardone MF, Navarro A, Mardis ER, Wilson RK, Eichler EE.

Nature. 2009 Feb 12;457(7231):877-81. doi: 10.1038/nature07744.

9.

Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables.

Seddon JM, Reynolds R, Maller J, Fagerness JA, Daly MJ, Rosner B.

Invest Ophthalmol Vis Sci. 2009 May;50(5):2044-53. doi: 10.1167/iovs.08-3064. Epub 2008 Dec 30.

10.

Haplotype sorting using human fosmid clone end-sequence pairs.

Kidd JM, Cheng Z, Graves T, Fulton B, Wilson RK, Eichler EE.

Genome Res. 2008 Dec;18(12):2016-23. doi: 10.1101/gr.081786.108. Epub 2008 Oct 3.

11.

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.

Korn JM, Kuruvilla FG, McCarroll SA, Wysoker A, Nemesh J, Cawley S, Hubbell E, Veitch J, Collins PJ, Darvishi K, Lee C, Nizzari MM, Gabriel SB, Purcell S, Daly MJ, Altshuler D.

Nat Genet. 2008 Oct;40(10):1253-60. doi: 10.1038/ng.237. Epub 2008 Sep 7.

12.

Integrated detection and population-genetic analysis of SNPs and copy number variation.

McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JB, Kirby A, Elliott AL, Parkin M, Hubbell E, Webster T, Mei R, Veitch J, Collins PJ, Handsaker R, Lincoln S, Nizzari M, Blume J, Jones KW, Rava R, Daly MJ, Gabriel SB, Altshuler D.

Nat Genet. 2008 Oct;40(10):1166-74. doi: 10.1038/ng.238. Epub 2008 Sep 7.

PMID:
18776908
13.

Variation near complement factor I is associated with risk of advanced AMD.

Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM.

Eur J Hum Genet. 2009 Jan;17(1):100-4. doi: 10.1038/ejhg.2008.140. Epub 2008 Aug 6.

14.

Factor H family proteins and human diseases.

Józsi M, Zipfel PF.

Trends Immunol. 2008 Aug;29(8):380-7. doi: 10.1016/j.it.2008.04.008. Epub 2008 Jul 2. Review.

PMID:
18602340
15.

Rhesus monkeys and humans share common susceptibility genes for age-related macular disease.

Francis PJ, Appukuttan B, Simmons E, Landauer N, Stoddard J, Hamon S, Ott J, Ferguson B, Klein M, Stout JT, Neuringer M.

Hum Mol Genet. 2008 Sep 1;17(17):2673-80. doi: 10.1093/hmg/ddn167. Epub 2008 Jun 4.

16.

Mapping and sequencing of structural variation from eight human genomes.

Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tüzün E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE.

Nature. 2008 May 1;453(7191):56-64. doi: 10.1038/nature06862.

17.

Measurement of factor H variants in plasma using variant-specific monoclonal antibodies: application to assessing risk of age-related macular degeneration.

Hakobyan S, Harris CL, Tortajada A, Goicochea de Jorge E, García-Layana A, Fernández-Robredo P, Rodríguez de Córdoba S, Morgan BP.

Invest Ophthalmol Vis Sci. 2008 May;49(5):1983-90. doi: 10.1167/iovs.07-1523.

PMID:
18436830
18.

Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.

Spencer KL, Hauser MA, Olson LM, Schmidt S, Scott WK, Gallins P, Agarwal A, Postel EA, Pericak-Vance MA, Haines JL.

Hum Mol Genet. 2008 Apr 1;17(7):971-7. Epub 2007 Dec 15.

19.

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.

Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M.

Genome Res. 2007 Nov;17(11):1665-74. Epub 2007 Oct 5.

20.

PLINK: a tool set for whole-genome association and population-based linkage analyses.

Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC.

Am J Hum Genet. 2007 Sep;81(3):559-75. Epub 2007 Jul 25.

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