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Novel OCRL1 mutations in patients with the phenotype of Dent disease.
Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, Rascher W, Ring T, Tasic V, van Wijk JA, Ludwig M. Utsch B, et al. Among authors: frund s. Am J Kidney Dis. 2006 Dec;48(6):942.e1-14. doi: 10.1053/j.ajkd.2006.08.018. Am J Kidney Dis. 2006. PMID: 17162149
Hypercalciuria in patients with CLCN5 mutations.
Ludwig M, Utsch B, Balluch B, Fründ S, Kuwertz-Bröking E, Bökenkamp A. Ludwig M, et al. Among authors: frund s. Pediatr Nephrol. 2006 Sep;21(9):1241-50. doi: 10.1007/s00467-006-0172-9. Epub 2006 Jun 29. Pediatr Nephrol. 2006. PMID: 16807762
Familial hypomagnesemia-hypercalciuria in 2 siblings.
Kuwertz-Bröking E, Fründ S, Bulla M, Kleta R, August C, Kisters K. Kuwertz-Bröking E, et al. Among authors: frund s. Clin Nephrol. 2001 Aug;56(2):155-61. Clin Nephrol. 2001. PMID: 11522093
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group. Otto EA, et al. J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068128 Free PMC article.
22 results