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Items: 1 to 20 of 50

1.

A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration.

Sivakumaran TA, Igo RP Jr, Kidd JM, Itsara A, Kopplin LJ, Chen W, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, Chew EY, Ramprasad VL, Tay WT, Mitchell P, Seielstad M, Stambolian DE, Edwards AO, Lee KE, Leontiev DV, Jun G, Wang Y, Tian L, Qiu F, Henning AK, LaFramboise T, Sen P, Aarthi M, George R, Raman R, Das MK, Vijaya L, Kumaramanickavel G, Wong TY, Swaroop A, Abecasis GR, Klein R, Klein BE, Nickerson DA, Eichler EE, Iyengar SK.

PLoS One. 2011;6(10):e25598. doi: 10.1371/journal.pone.0025598. Epub 2011 Oct 12.

2.

Association assessment of copy number polymorphism and risk of age-related macular degeneration.

Sawitzke J, Im KM, Kostiha B, Dean M, Gold B.

Ophthalmology. 2011 Dec;118(12):2442-6. doi: 10.1016/j.ophtha.2011.05.027.

3.

Copy number variation in the complement factor H-related genes and age-related macular degeneration.

Kubista KE, Tosakulwong N, Wu Y, Ryu E, Roeder JL, Hecker LA, Baratz KH, Brown WL, Edwards AO.

Mol Vis. 2011;17:2080-92. Epub 2011 Aug 6.

4.

A copy number variation morbidity map of developmental delay.

Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE.

Nat Genet. 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. Erratum in: Nat Genet. 2014 Sep;46(9):1040.

5.

Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.

Zhao J, Wu H, Khosravi M, Cui H, Qian X, Kelly JA, Kaufman KM, Langefeld CD, Williams AH, Comeau ME, Ziegler JT, Marion MC, Adler A, Glenn SB, Alarcón-Riquelme ME; BIOLUPUS Network; GENLES Network, Pons-Estel BA, Harley JB, Bae SC, Bang SY, Cho SK, Jacob CO, Vyse TJ, Niewold TB, Gaffney PM, Moser KL, Kimberly RP, Edberg JC, Brown EE, Alarcon GS, Petri MA, Ramsey-Goldman R, Vilá LM, Reveille JD, James JA, Gilkeson GS, Kamen DL, Freedman BI, Anaya JM, Merrill JT, Criswell LA, Scofield RH, Stevens AM, Guthridge JM, Chang DM, Song YW, Park JA, Lee EY, Boackle SA, Grossman JM, Hahn BH, Goodship TH, Cantor RM, Yu CY, Shen N, Tsao BP.

PLoS Genet. 2011 May;7(5):e1002079. doi: 10.1371/journal.pgen.1002079. Epub 2011 May 26.

6.

Population-genetic properties of differentiated human copy-number polymorphisms.

Campbell CD, Sampas N, Tsalenko A, Sudmant PH, Kidd JM, Malig M, Vu TH, Vives L, Tsang P, Bruhn L, Eichler EE.

Am J Hum Genet. 2011 Mar 11;88(3):317-32. doi: 10.1016/j.ajhg.2011.02.004.

7.

Prevalence of age-related macular degeneration in the US population.

Klein R, Chou CF, Klein BE, Zhang X, Meuer SM, Saaddine JB.

Arch Ophthalmol. 2011 Jan;129(1):75-80. doi: 10.1001/archophthalmol.2010.318.

PMID:
21220632
8.

Diversity of human copy number variation and multicopy genes.

Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE.

Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005.

9.

Genetic variation of the Fc gamma receptor 3B gene and association with rheumatoid arthritis.

Marques RB, Thabet MM, White SJ, Houwing-Duistermaat JJ, Bakker AM, Hendriks GJ, Zhernakova A, Huizinga TW, van der Helm-van Mil AH, Toes RE.

PLoS One. 2010 Oct 5;5(10). pii: e13173. doi: 10.1371/journal.pone.0013173.

10.

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.

PMID:
20843825
11.

C-reactive protein levels and complement factor H polymorphism interaction in age-related macular degeneration and its progression.

Robman L, Baird PN, Dimitrov PN, Richardson AJ, Guymer RH.

Ophthalmology. 2010 Oct;117(10):1982-8. doi: 10.1016/j.ophtha.2010.02.003. Epub 2010 Jun 3.

PMID:
20605213
12.

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.

13.

Association of variation in Fcgamma receptor 3B gene copy number with rheumatoid arthritis in Caucasian samples.

McKinney C, Fanciulli M, Merriman ME, Phipps-Green A, Alizadeh BZ, Koeleman BP, Dalbeth N, Gow PJ, Harrison AA, Highton J, Jones PB, Stamp LK, Steer S, Barrera P, Coenen MJ, Franke B, van Riel PL, Vyse TJ, Aitman TJ, Radstake TR, Merriman TR.

Ann Rheum Dis. 2010 Sep;69(9):1711-6. doi: 10.1136/ard.2009.123588. Epub 2010 May 14.

14.

An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates association with age-related macular degeneration.

Richardson AJ, Islam FM, Aung KZ, Guymer RH, Baird PN.

Invest Ophthalmol Vis Sci. 2010 Oct;51(10):4932-6. doi: 10.1167/iovs.09-5114. Epub 2010 May 5.

PMID:
20445115
15.

Molecular basis of C-reactive protein binding and modulation of complement activation by factor H-related protein 4.

Hebecker M, Okemefuna AI, Perkins SJ, Mihlan M, Huber-Lang M, Józsi M.

Mol Immunol. 2010 Mar;47(6):1347-55. doi: 10.1016/j.molimm.2009.12.005. Epub 2009 Dec 29.

PMID:
20042240
16.

Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.

Moore I, Strain L, Pappworth I, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Staniforth SJ, Holmes LV, Ward R, Morgan L, Goodship TH, Marchbank KJ.

Blood. 2010 Jan 14;115(2):379-87. doi: 10.1182/blood-2009-05-221549. Epub 2009 Oct 27.

17.

Experimental aspects of copy number variant assays at CCL3L1.

Field SF, Howson JM, Maier LM, Walker S, Walker NM, Smyth DJ, Armour JA, Clayton DG, Todd JA.

Nat Med. 2009 Oct;15(10):1115-7. doi: 10.1038/nm1009-1115. No abstract available.

18.

CCL3L1 and HIV/AIDS susceptibility.

Bhattacharya T, Stanton J, Kim EY, Kunstman KJ, Phair JP, Jacobson LP, Wolinsky SM.

Nat Med. 2009 Oct;15(10):1112-5. doi: 10.1038/nm1009-1112. No abstract available.

PMID:
19812561
19.

Association of copy number variation in the FCGR3B gene with risk of autoimmune diseases.

Mamtani M, Anaya JM, He W, Ahuja SK.

Genes Immun. 2010 Mar;11(2):155-60. doi: 10.1038/gene.2009.71. Epub 2009 Sep 10.

PMID:
19741716
20.

Personalized copy number and segmental duplication maps using next-generation sequencing.

Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O, Sahinalp SC, Gibbs RA, Eichler EE.

Nat Genet. 2009 Oct;41(10):1061-7. doi: 10.1038/ng.437. Epub 2009 Aug 30.

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