Bökenkamp A - Search Results

1

Bökenkamp A, Ludwig M. Bökenkamp A, et al. Nephron Physiol. 2011;118(1):p1-6. doi: 10.1159/000320880. Epub 2010 Nov 11. Nephron Physiol. 2011. PMID: 21071982 Review.

2

Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant.

Ludwig M, Waldegger S, Nuutinen M, Bökenkamp A, Reissinger A, Steckelbroeck S, Utsch B. Ludwig M, et al. Among authors: bokenkamp a. Kidney Blood Press Res. 2003;26(3):176-84. doi: 10.1159/000071883. Kidney Blood Press Res. 2003. PMID: 12886045

3

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

Ludwig M, Doroszewicz J, Seyberth HW, Bökenkamp A, Balluch B, Nuutinen M, Utsch B, Waldegger S. Ludwig M, et al. Among authors: bokenkamp a. Hum Genet. 2005 Jul;117(2-3):228-37. doi: 10.1007/s00439-005-1303-2. Epub 2005 May 14. Hum Genet. 2005. PMID: 15895257

4

[Schimke's immuno-osseous dysplasia as an explanation for the rare combination of disproportionately short stature and the nephrotic syndrome].

de Jong M, van Wijk JA, van der Hulst JP, Ludwig M, Bökenkamp A. de Jong M, et al. Among authors: bokenkamp a. Ned Tijdschr Geneeskd. 2005 Sep 24;149(39):2178-82. Ned Tijdschr Geneeskd. 2005. PMID: 16223078 Dutch.

5

R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.

Bökenkamp A, deJong M, van Wijk JA, Block D, van Hagen JM, Ludwig M. Bökenkamp A, et al. Pediatr Nephrol. 2005 Dec;20(12):1724-8. doi: 10.1007/s00467-005-2047-x. Epub 2005 Oct 20. Pediatr Nephrol. 2005. PMID: 16237566

6

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: bokenkamp a. Pediatr Nephrol. 2006 Sep;21(9):1241-50. doi: 10.1007/s00467-006-0172-9. Epub 2006 Jun 29. Pediatr Nephrol. 2006. PMID: 16807762

7

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: bokenkamp a. 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

8

Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.

Bockenhauer D, Bokenkamp A, van't Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M. Bockenhauer D, et al. Among authors: bokenkamp a. Clin J Am Soc Nephrol. 2008 Sep;3(5):1430-6. doi: 10.2215/CJN.00520108. Epub 2008 May 14. Clin J Am Soc Nephrol. 2008. PMID: 18480301 Free PMC article.

9

Possible association of Down syndrome and exstrophy-epispadias complex: report of two new cases and review of the literature.

Reutter H, Bökenkamp A, Ebert AK, Rösch W, Boemers TM, Nöthen MM, Ludwig M. Reutter H, et al. Among authors: bokenkamp a. Eur J Pediatr. 2009 Jul;168(7):881-3. doi: 10.1007/s00431-008-0852-5. Epub 2008 Oct 16. Eur J Pediatr. 2009. PMID: 18923839 Review.

10

Dent-2 disease: a mild variant of Lowe syndrome.

Bökenkamp A, Böckenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, Ludwig M. Bökenkamp A, et al. J Pediatr. 2009 Jul;155(1):94-9. doi: 10.1016/j.jpeds.2009.01.049. J Pediatr. 2009. PMID: 19559295

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