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Complement factor h autoantibodies and age-related macular degeneration.
Dhillon B, Wright AF, Tufail A, Pappworth I, Hayward C, Moore I, Strain L, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Armbrecht AM, Laude A, Deary IJ, Staniforth SJ, Holmes LV, Goodship TH, Marchbank KJ. Dhillon B, et al. Among authors: kavanagh d. Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5858-63. doi: 10.1167/iovs.09-5124. Epub 2010 Jun 30. Invest Ophthalmol Vis Sci. 2010. PMID: 20592223
Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.
Wong EK, Anderson HE, Herbert AP, Challis RC, Brown P, Reis GS, Tellez JO, Strain L, Fluck N, Humphrey A, Macleod A, Richards A, Ahlert D, Santibanez-Koref M, Barlow PN, Marchbank KJ, Harris CL, Goodship TH, Kavanagh D. Wong EK, et al. Among authors: kavanagh d. J Am Soc Nephrol. 2014 Nov;25(11):2425-33. doi: 10.1681/ASN.2013070732. Epub 2014 Apr 10. J Am Soc Nephrol. 2014. PMID: 24722444 Free PMC article.
A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome.
Challis RC, Araujo GS, Wong EK, Anderson HE, Awan A, Dorman AM, Waldron M, Wilson V, Brocklebank V, Strain L, Morgan BP, Harris CL, Marchbank KJ, Goodship TH, Kavanagh D. Challis RC, et al. Among authors: kavanagh d. J Am Soc Nephrol. 2016 Jun;27(6):1617-24. doi: 10.1681/ASN.2015010100. Epub 2015 Oct 21. J Am Soc Nephrol. 2016. PMID: 26490391 Free PMC article.
An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age-Related Macular Degeneration and Indicates a Beneficial Role for UV Light Exposure.
Hallam D, Collin J, Bojic S, Chichagova V, Buskin A, Xu Y, Lafage L, Otten EG, Anyfantis G, Mellough C, Przyborski S, Alharthi S, Korolchuk V, Lotery A, Saretzki G, McKibbin M, Armstrong L, Steel D, Kavanagh D, Lako M. Hallam D, et al. Among authors: kavanagh d. Stem Cells. 2017 Nov;35(11):2305-2320. doi: 10.1002/stem.2708. Epub 2017 Oct 9. Stem Cells. 2017. PMID: 28913923 Free PMC article.
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA. Duncan CJA, et al. Among authors: kavanagh d. Sci Immunol. 2019 Dec 13;4(42):eaav7501. doi: 10.1126/sciimmunol.aav7501. Sci Immunol. 2019. PMID: 31836668 Free PMC article.
Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy.
Brocklebank V, Kumar G, Howie AJ, Chandar J, Milford DV, Craze J, Evans J, Finlay E, Freundlich M, Gale DP, Inward C, Mraz M, Jones C, Wong W, Marks SD, Connolly J, Corner BM, Smith-Jackson K, Walsh PR, Marchbank KJ, Harris CL, Wilson V, Wong EKS, Malina M, Johnson S, Sheerin NS, Kavanagh D. Brocklebank V, et al. Among authors: kavanagh d. Kidney Int. 2020 Jun;97(6):1260-1274. doi: 10.1016/j.kint.2020.01.045. Epub 2020 Feb 28. Kidney Int. 2020. PMID: 32386968 Free PMC article.
662 results