Knoers NV - Search Results

1

Current insights into renal ciliopathies: what can genetics teach us?

Arts HH, Knoers NV. Arts HH, et al. Among authors: knoers nv. Pediatr Nephrol. 2013 Jun;28(6):863-74. doi: 10.1007/s00467-012-2259-9. Epub 2012 Jul 25. Pediatr Nephrol. 2013. PMID: 22829176 Free PMC article. Review.

2

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Vermeer S, et al. Am J Hum Genet. 2010 Dec 10;87(6):813-9. doi: 10.1016/j.ajhg.2010.10.015. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092923 Free PMC article.

3

Human syndromes with congenital patellar anomalies and the underlying gene defects.

Bongers EM, van Kampen A, van Bokhoven H, Knoers NV. Bongers EM, et al. Among authors: knoers nv. Clin Genet. 2005 Oct;68(4):302-19. doi: 10.1111/j.1399-0004.2005.00508.x. Clin Genet. 2005. PMID: 16143015 Review.

4

Aetiology of hypospadias: a systematic review of genes and environment.

van der Zanden LF, van Rooij IA, Feitz WF, Franke B, Knoers NV, Roeleveld N. van der Zanden LF, et al. Among authors: knoers nv. Hum Reprod Update. 2012 May-Jun;18(3):260-83. doi: 10.1093/humupd/dms002. Epub 2012 Feb 26. Hum Reprod Update. 2012. PMID: 22371315 Review.

5

Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Agrawal PB, Beggs AH, Dara Hama-Amin A, Diekstra A, Knoers NV, Lammens M, van Alfen N. Ockeloen CW, et al. Among authors: knoers nv. Neuromuscul Disord. 2012 Jul;22(7):632-9. doi: 10.1016/j.nmd.2012.03.008. Epub 2012 May 4. Neuromuscul Disord. 2012. PMID: 22560515 Free PMC article.

6

Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.

Knoers NV, Bongers EM, van Beersum SE, Lommen EJ, van Bokhoven H, Hol FA. Knoers NV, et al. J Am Soc Nephrol. 2000 Sep;11(9):1762-6. J Am Soc Nephrol. 2000. PMID: 10966502

7

Nephrogenic diabetes insipidus.

Knoers NV, Monnens LL. Knoers NV, et al. Semin Nephrol. 1999 Jul;19(4):344-52. Semin Nephrol. 1999. PMID: 10435672 Review.

8

Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families.

Lemmink HH, van den Heuvel LP, van Dijk HA, Merkx GF, Smilde TJ, Taschner PE, Monnens LA, Hebert SC, Knoers NV. Lemmink HH, et al. Among authors: knoers nv. Pediatr Nephrol. 1996 Aug;10(4):403-7. doi: 10.1007/s004670050129. Pediatr Nephrol. 1996. PMID: 8865231

9

Discovery of aquaporins: a breakthrough in research on renal water transport.

van Lieburg AF, Knoers NV, Deen PM. van Lieburg AF, et al. Among authors: knoers nv. Pediatr Nephrol. 1995 Apr;9(2):228-34. doi: 10.1007/BF00860757. Pediatr Nephrol. 1995. PMID: 7540850 Review.

10

Molecular and cellular defects in nephrogenic diabetes insipidus.

Knoers NV, Deen PM. Knoers NV, et al. Pediatr Nephrol. 2001 Dec;16(12):1146-52. doi: 10.1007/s004670100051. Pediatr Nephrol. 2001. PMID: 11793119 Review.

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