Knoers NVAM - Search Results

1

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

2

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.

3

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

4

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

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

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.

Marini M, Bongers EM, Cusano R, Di Duca M, Seri M, Knoers NV, Ravazzolo R. Marini M, et al. Int J Mol Med. 2003 Jul;12(1):79-82. Int J Mol Med. 2003. PMID: 12792813

7

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys.

Heidet L, Bongers EM, Sich M, Zhang SY, Loirat C, Meyrier A, Broyer M, Landthaler G, Faller B, Sado Y, Knoers NV, Gubler MC. Heidet L, et al. Am J Pathol. 2003 Jul;163(1):145-55. doi: 10.1016/S0002-9440(10)63638-3. Am J Pathol. 2003. PMID: 12819019 Free PMC article.

8

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.

9

Genetic, environmental, and epigenetic factors involved in CAKUT.

Nicolaou N, Renkema KY, Bongers EM, Giles RH, Knoers NV. Nicolaou N, et al. Nat Rev Nephrol. 2015 Dec;11(12):720-31. doi: 10.1038/nrneph.2015.140. Epub 2015 Aug 18. Nat Rev Nephrol. 2015. PMID: 26281895 Review.

10

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.

Viering D, Schlingmann KP, Hureaux M, Nijenhuis T, Mallett A, Chan MMY, van Beek A, van Eerde AM, Coulibaly JM, Vallet M, Decramer S, Pelletier S, Klaus G, Kömhoff M, Beetz R, Patel C, Shenoy M, Steenbergen EJ, Anderson G, Bongers EMHF, Bergmann C, Panneman D, Rodenburg RJ, Kleta R, Houillier P, Konrad M, Vargas-Poussou R, Knoers NVAM, Bockenhauer D, de Baaij JHF; Genomics England Research Consortium. Viering D, et al. Among authors: knoers nvam. J Am Soc Nephrol. 2022 Feb;33(2):305-325. doi: 10.1681/ASN.2021050596. Epub 2021 Oct 4. J Am Soc Nephrol. 2022. PMID: 34607911 Free PMC article.

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