Bongers EM - Search Results

1

Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct Patterning.

Pietilä I, Prunskaite-Hyyryläinen R, Kaisto S, Tika E, van Eerde AM, Salo AM, Garma L, Miinalainen I, Feitz WF, Bongers EM, Juffer A, Knoers NV, Renkema KY, Myllyharju J, Vainio SJ. Pietilä I, et al. Among authors: bongers em. PLoS One. 2016 Jan 21;11(1):e0147171. doi: 10.1371/journal.pone.0147171. eCollection 2016. PLoS One. 2016. PMID: 26794322 Free PMC article.

2

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

Knoers NVAM, Bongers EMHF, Beersum SECV, Lommen EJP, Bokhoven HV, Hol FA. Knoers NVAM, et al. J Am Soc Nephrol. 2000 Sep;11(9):1762-1766. doi: 10.1681/ASN.V1191762. J Am Soc Nephrol. 2000. PMID: 10966502

3

Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia.

Bongers EM, van Bokhoven H, Knoers NV, Hamel BC, Woods CG. Bongers EM, et al. Am J Med Genet. 2002 Feb 15;108(1):78-9. doi: 10.1002/ajmg.10198. Am J Med Genet. 2002. PMID: 11857555 No abstract available.

4

Nail-patella syndrome. Overview on clinical and molecular findings.

Bongers EM, Gubler MC, Knoers NV. Bongers EM, et al. Pediatr Nephrol. 2002 Sep;17(9):703-12. doi: 10.1007/s00467-002-0911-5. Epub 2002 Jul 30. Pediatr Nephrol. 2002. PMID: 12215822 Review.

5

[From gene to disease; the nail-patella syndrome and the LMX1B gene].

Bongers EM, Knoers NV. Bongers EM, et al. Ned Tijdschr Geneeskd. 2003 Jan 11;147(2):67-9. Ned Tijdschr Geneeskd. 2003. PMID: 12602071 Review. Dutch.

6

Mutations in the human TBX4 gene cause small patella syndrome.

Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. Bongers EM, et al. Am J Hum Genet. 2004 Jun;74(6):1239-48. doi: 10.1086/421331. Epub 2004 Apr 21. Am J Hum Genet. 2004. PMID: 15106123 Free PMC article.

7

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.

Bongers EM, Huysmans FT, Levtchenko E, de Rooy JW, Blickman JG, Admiraal RJ, Huygen PL, Cruysberg JR, Toolens PA, Prins JB, Krabbe PF, Borm GF, Schoots J, van Bokhoven H, van Remortele AM, Hoefsloot LH, van Kampen A, Knoers NV. Bongers EM, et al. Eur J Hum Genet. 2005 Aug;13(8):935-46. doi: 10.1038/sj.ejhg.5201446. Eur J Hum Genet. 2005. PMID: 15928687

8

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. Clin Genet. 2005 Oct;68(4):302-19. doi: 10.1111/j.1399-0004.2005.00508.x. Clin Genet. 2005. PMID: 16143015 Review.

9

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.

Bongers EM, de Wijs IJ, Marcelis C, Hoefsloot LH, Knoers NV. Bongers EM, et al. Eur J Hum Genet. 2008 Oct;16(10):1240-4. doi: 10.1038/ejhg.2008.83. Epub 2008 Apr 16. Eur J Hum Genet. 2008. PMID: 18414507

10

Common variants in DGKK are strongly associated with risk of hypospadias.

van der Zanden LF, van Rooij IA, Feitz WF, Knight J, Donders AR, Renkema KY, Bongers EM, Vermeulen SH, Kiemeney LA, Veltman JA, Arias-Vásquez A, Zhang X, Markljung E, Qiao L, Baskin LS, Nordenskjöld A, Roeleveld N, Franke B, Knoers NV. van der Zanden LF, et al. Among authors: bongers em. Nat Genet. 2011 Jan;43(1):48-50. doi: 10.1038/ng.721. Epub 2010 Nov 28. Nat Genet. 2011. PMID: 21113153

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