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Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.
Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, Mele C, Bresin E, Cassis L, Gamba S, Porrati F, Bucchioni S, Monteferrante G, Fang CJ, Liszewski MK, Kavanagh D, Atkinson JP, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP. Caprioli J, et al. Among authors: kavanagh d. Blood. 2006 Aug 15;108(4):1267-79. doi: 10.1182/blood-2005-10-007252. Epub 2006 Apr 18. Blood. 2006. PMID: 16621965 Free PMC article. Clinical Trial.
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.
Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A, Arzouk N, Cleper R, Francois M, Guest G, Pourrat J, Seligman R, Fridman WH, Loirat C, Atkinson JP. Fremeaux-Bacchi V, et al. Among authors: kavanagh d. J Am Soc Nephrol. 2006 Jul;17(7):2017-25. doi: 10.1681/ASN.2005101051. Epub 2006 Jun 8. J Am Soc Nephrol. 2006. PMID: 16762990
Atypical haemolytic uraemic syndrome.
Kavanagh D, Goodship TH, Richards A. Kavanagh D, et al. Br Med Bull. 2006;77-78:5-22. doi: 10.1093/bmb/ldl004. Epub 2006 Sep 11. Br Med Bull. 2006. PMID: 16968692 Review.
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP. Richards A, et al. Among authors: kavanagh d. Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660820
682 results