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Journal Abstract Search

219 related items for PubMed ID: 29686068

  • 1. Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.
    Cantsilieris S, Nelson BJ, Huddleston J, Baker C, Harshman L, Penewit K, Munson KM, Sorensen M, Welch AE, Dang V, Grassmann F, Richardson AJ, Guymer RH, Graves-Lindsay TA, Wilson RK, Weber BHF, Baird PN, Allikmets R, Eichler EE.
    Proc Natl Acad Sci U S A; 2018 May 08; 115(19):E4433-E4442. PubMed ID: 29686068
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  • 5. Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication.
    Tasaki Y, Tsujimoto H, Yokoyama T, Sugimoto N, Kitajima S, Fujii H, Hidaka Y, Kato N, Maruyama S, Inoue N, Wada T.
    Front Immunol; 2024 May 08; 15():1360855. PubMed ID: 38524137
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  • 6. Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome.
    Abarrategui-Garrido C, Martínez-Barricarte R, López-Trascasa M, de Córdoba SR, Sánchez-Corral P.
    Blood; 2009 Nov 05; 114(19):4261-71. PubMed ID: 19745068
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  • 7. Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: Characterization, ethnic distribution and evolutionary implications.
    Hageman GS, Hancox LS, Taiber AJ, Gehrs KM, Anderson DH, Johnson LV, Radeke MJ, Kavanagh D, Richards A, Atkinson J, Meri S, Bergeron J, Zernant J, Merriam J, Gold B, Allikmets R, Dean M.
    Ann Med; 2006 Nov 05; 38(8):592-604. PubMed ID: 28950782
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  • 8. Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.
    Lorés-Motta L, Paun CC, Corominas J, Pauper M, Geerlings MJ, Altay L, Schick T, Daha MR, Fauser S, Hoyng CB, den Hollander AI, de Jong EK.
    Ophthalmology; 2018 Jul 05; 125(7):1064-1074. PubMed ID: 29398083
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  • 9. Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome.
    Bernabéu-Herrero ME, Jiménez-Alcázar M, Anter J, Pinto S, Sánchez Chinchilla D, Garrido S, López-Trascasa M, Rodríguez de Córdoba S, Sánchez-Corral P.
    Mol Immunol; 2015 Oct 05; 67(2 Pt B):276-86. PubMed ID: 26163426
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  • 10. Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing.
    Tschernoster N, Erger F, Walsh PR, McNicholas B, Fistrek M, Habbig S, Schumacher AL, Folz-Donahue K, Kukat C, Toliat MR, Becker C, Thiele H, Kavanagh D, Nürnberg P, Beck BB, Altmüller J.
    J Mol Diagn; 2022 Jun 05; 24(6):619-631. PubMed ID: 35398599
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  • 12. Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration.
    Ansari M, McKeigue PM, Skerka C, Hayward C, Rudan I, Vitart V, Polasek O, Armbrecht AM, Yates JR, Vatavuk Z, Bencic G, Kolcic I, Oostra BA, Van Duijn CM, Campbell S, Stanton CM, Huffman J, Shu X, Khan JC, Shahid H, Harding SP, Bishop PN, Deary IJ, Moore AT, Dhillon B, Rudan P, Zipfel PF, Sim RB, Hastie ND, Campbell H, Wright AF.
    Hum Mol Genet; 2013 Dec 01; 22(23):4857-69. PubMed ID: 23873044
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  • 13. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.
    Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, Stockman HA, Borchardt JD, Gehrs KM, Smith RJ, Silvestri G, Russell SR, Klaver CC, Barbazetto I, Chang S, Yannuzzi LA, Barile GR, Merriam JC, Smith RT, Olsh AK, Bergeron J, Zernant J, Merriam JE, Gold B, Dean M, Allikmets R.
    Proc Natl Acad Sci U S A; 2005 May 17; 102(20):7227-32. PubMed ID: 15870199
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  • 15. A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration.
    Sivakumaran TA, Igo RP, 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 May 17; 6(10):e25598. PubMed ID: 22022419
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  • 16. Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
    Hughes AE, Bridgett S, Meng W, Li M, Curcio CA, Stambolian D, Bradley DT.
    Invest Ophthalmol Vis Sci; 2016 May 01; 57(6):2763-9. PubMed ID: 27196323
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  • 17. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.
    Hughes AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, Chakravarthy U.
    Nat Genet; 2006 Oct 01; 38(10):1173-7. PubMed ID: 16998489
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  • 18. A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.
    Valoti E, Alberti M, Tortajada A, Garcia-Fernandez J, Gastoldi S, Besso L, Bresin E, Remuzzi G, Rodriguez de Cordoba S, Noris M.
    J Am Soc Nephrol; 2015 Jan 01; 26(1):209-19. PubMed ID: 24904082
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  • 19. 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 01; 19(23):4694-704. PubMed ID: 20843825
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  • 20. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
    Raychaudhuri S, Iartchouk O, Chin K, Tan PL, Tai AK, Ripke S, Gowrisankar S, Vemuri S, Montgomery K, Yu Y, Reynolds R, Zack DJ, Campochiaro B, Campochiaro P, Katsanis N, Daly MJ, Seddon JM.
    Nat Genet; 2011 Oct 23; 43(12):1232-6. PubMed ID: 22019782
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