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Clinical and diagnostic features of Bartter and Gitelman syndromes.
Walsh PR, Tse Y, Ashton E, Iancu D, Jenkins L, Bienias M, Kleta R, Van't Hoff W, Bockenhauer D. Walsh PR, et al. Clin Kidney J. 2018 Jun;11(3):302-309. doi: 10.1093/ckj/sfx118. Epub 2017 Nov 10. Clin Kidney J. 2018. PMID: 29942493 Free PMC article.
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL. Waters AM, et al. J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. J Med Genet. 2015. PMID: 25564561 Free PMC article.
Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland.
Brocklebank V, Johnson S, Sheerin TP, Marks SD, Gilbert RD, Tyerman K, Kinoshita M, Awan A, Kaur A, Webb N, Hegde S, Finlay E, Fitzpatrick M, Walsh PR, Wong EKS, Booth C, Kerecuk L, Salama AD, Almond M, Inward C, Goodship TH, Sheerin NS, Marchbank KJ, Kavanagh D. Brocklebank V, et al. Among authors: walsh pr. Kidney Int. 2017 Nov;92(5):1261-1271. doi: 10.1016/j.kint.2017.04.028. Epub 2017 Jul 24. Kidney Int. 2017. PMID: 28750931 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: walsh pr. 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.
Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome.
Glover EK, Smith-Jackson K, Brocklebank V, Wilson V, Walsh PR, Montgomery EK, Wong EKS, Johnson S, Malina M, Kavanagh D, Sheerin NS; UK aHUS Transplant Consortium. Glover EK, et al. Among authors: walsh pr. Transplantation. 2023 Apr 1;107(4):994-1003. doi: 10.1097/TP.0000000000004355. Epub 2023 Mar 31. Transplantation. 2023. PMID: 36413152 Free PMC article.
51 results