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Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.
Holmes LV, Strain L, Staniforth SJ, Moore I, Marchbank K, Kavanagh D, Goodship JA, Cordell HJ, Goodship TH. Holmes LV, et al. Among authors: goodship ja, goodship th. PLoS One. 2013 Apr 16;8(4):e60352. doi: 10.1371/journal.pone.0060352. Print 2013. PLoS One. 2013. PMID: 23613724 Free PMC article.
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
Venables JP, Strain L, Routledge D, Bourn D, Powell HM, Warwicker P, Diaz-Torres ML, Sampson A, Mead P, Webb M, Pirson Y, Jackson MS, Hughes A, Wood KM, Goodship JA, Goodship TH. Venables JP, et al. Among authors: goodship ja, goodship th. PLoS Med. 2006 Oct;3(10):e431. doi: 10.1371/journal.pmed.0030431. PLoS Med. 2006. PMID: 17076561 Free PMC article.
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.
Zipfel PF, Edey M, Heinen S, Józsi M, Richter H, Misselwitz J, Hoppe B, Routledge D, Strain L, Hughes AE, Goodship JA, Licht C, Goodship TH, Skerka C. Zipfel PF, et al. Among authors: goodship ja, goodship th. PLoS Genet. 2007 Mar 16;3(3):e41. doi: 10.1371/journal.pgen.0030041. Epub 2007 Feb 1. PLoS Genet. 2007. PMID: 17367211 Free PMC article.
Factors determining penetrance in familial atypical haemolytic uraemic syndrome.
Sansbury FH, Cordell HJ, Bingham C, Bromilow G, Nicholls A, Powell R, Shields B, Smyth L, Warwicker P, Strain L, Wilson V, Goodship JA, Goodship TH, Turnpenny PD. Sansbury FH, et al. Among authors: goodship ja. J Med Genet. 2014 Nov;51(11):756-64. doi: 10.1136/jmedgenet-2014-102498. Epub 2014 Sep 26. J Med Genet. 2014. PMID: 25261570
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.
Richards A, Kemp EJ, Liszewski MK, Goodship JA, Lampe AK, Decorte R, Müslümanoğlu MH, Kavukcu S, Filler G, Pirson Y, Wen LS, Atkinson JP, Goodship TH. Richards A, et al. Among authors: goodship ja, goodship th. Proc Natl Acad Sci U S A. 2003 Oct 28;100(22):12966-71. doi: 10.1073/pnas.2135497100. Epub 2003 Oct 17. Proc Natl Acad Sci U S A. 2003. PMID: 14566051 Free PMC article.
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Soemedi R, et al. Among authors: goodship ja. Hum Mol Genet. 2012 Apr 1;21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22. Hum Mol Genet. 2012. PMID: 22199024 Free PMC article.
170 results