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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. 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.
Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.
Challis RC, Ring T, Xu Y, Wong EK, Flossmann O, Roberts IS, Ahmed S, Wetherall M, Salkus G, Brocklebank V, Fester J, Strain L, Wilson V, Wood KM, Marchbank KJ, Santibanez-Koref M, Goodship TH, Kavanagh D. Challis RC, et al. J Am Soc Nephrol. 2017 Apr;28(4):1084-1091. doi: 10.1681/ASN.2015101189. Epub 2016 Dec 14. J Am Soc Nephrol. 2017. PMID: 27974406 Free PMC article.
Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.
Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Kenda RB, Barton DE, Cordell HJ. Darlow JM, et al. Sci Rep. 2017 Nov 6;7(1):14595. doi: 10.1038/s41598-017-15062-9. Sci Rep. 2017. PMID: 29097723 Free PMC article.
Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.
Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Kenda RB, Barton DE, Cordell HJ. Darlow JM, et al. Sci Rep. 2018 Jan 8;8(1):459. doi: 10.1038/s41598-017-17992-w. Sci Rep. 2018. PMID: 29311702 Free PMC article.
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.
Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, Collin M. Dickinson RE, et al. Blood. 2011 Sep 8;118(10):2656-8. doi: 10.1182/blood-2011-06-360313. Epub 2011 Jul 15. Blood. 2011. PMID: 21765025 Free PMC article.
149 results