Bongers EM - Search Results

1

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.

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

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome.

Bongers EM, Van Bokhoven H, Van Thienen MN, Kooyman MA, Van Beersum SE, Boetes C, Knoers NV, Hamel BC. Bongers EM, et al. J Med Genet. 2001 Mar;38(3):209-14. doi: 10.1136/jmg.38.3.209. J Med Genet. 2001. PMID: 11303519 Free PMC article. Review. No abstract available.

4

Meier-Gorlin syndrome: report of eight additional cases and review.

Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, Hall BD, Superneau DW, Harbison M, Poss A, van Bokhoven H, Hamel BC, Knoers NV. Bongers EM, et al. Am J Med Genet. 2001 Aug 1;102(2):115-24. doi: 10.1002/ajmg.1452. Am J Med Genet. 2001. PMID: 11477602 Review.

5

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.

6

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.

7

[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.

8

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. Among authors: bongers em. Int J Mol Med. 2003 Jul;12(1):79-82. Int J Mol Med. 2003. PMID: 12792813

9

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. Among authors: bongers em. 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.

10

No justification of routine screening for 22q11 deletions in patients with overt cleft palate.

Ruiter EM, Bongers EM, Smeets D, Kuijpers-Jagtman AM, Hamel BC. Ruiter EM, et al. Among authors: bongers em. Clin Genet. 2003 Sep;64(3):216-9. doi: 10.1034/j.1399-0004.2003.00134.x. Clin Genet. 2003. PMID: 12919136

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