Plomp A - Search Results

1

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.

Hu X, Plomp A, Wijnholds J, Ten Brink J, van Soest S, van den Born LI, Leys A, Peek R, de Jong PT, Bergen AA. Hu X, et al. Among authors: plomp a. Eur J Hum Genet. 2003 Mar;11(3):215-24. doi: 10.1038/sj.ejhg.5200953. Eur J Hum Genet. 2003. PMID: 12673275

2

Mutations in ABCC6 cause pseudoxanthoma elasticum.

Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, Swart J, Kool M, van Soest S, Baas F, ten Brink JB, de Jong PT. Bergen AA, et al. Among authors: plomp as. Nat Genet. 2000 Jun;25(2):228-31. doi: 10.1038/76109. Nat Genet. 2000. PMID: 10835643

3

[Changing perception of hereditary eye diseases].

Plomp AS, Bergen AA, Hulsman CA, de Jong PT. Plomp AS, et al. Ned Tijdschr Geneeskd. 2002 Feb 23;146(8):345-50. Ned Tijdschr Geneeskd. 2002. PMID: 11887617 Dutch.

4

Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.

Hu X, Peek R, Plomp A, ten Brink Jt, Scheffer G, van Soest S, Leys A, de Jong PT, Bergen AA. Hu X, et al. Among authors: plomp a. Invest Ophthalmol Vis Sci. 2003 May;44(5):1824-9. doi: 10.1167/iovs.02-0981. Invest Ophthalmol Vis Sci. 2003. PMID: 12714611

5

Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.

Hu X, Plomp AS, van Soest S, Wijnholds J, de Jong PT, Bergen AA. Hu X, et al. Among authors: plomp as. Surv Ophthalmol. 2003 Jul-Aug;48(4):424-38. doi: 10.1016/s0039-6257(03)00053-5. Surv Ophthalmol. 2003. PMID: 12850230 Review.

6

Does autosomal dominant pseudoxanthoma elasticum exist?

Plomp AS, Hu X, de Jong PT, Bergen AA. Plomp AS, et al. Am J Med Genet A. 2004 May 1;126A(4):403-12. doi: 10.1002/ajmg.a.20632. Am J Med Genet A. 2004. PMID: 15098239 Review.

7

[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].

Bergen AA, Plomp AS, Gorgels TG, de Jong PT. Bergen AA, et al. Among authors: plomp as. Ned Tijdschr Geneeskd. 2004 Aug 7;148(32):1586-9. Ned Tijdschr Geneeskd. 2004. PMID: 15382558 Review. Dutch.

8

Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.

Hu X, Plomp A, Gorgels T, Brink JT, Loves W, Mannens M, de Jong PT, Bergen AA. Hu X, et al. Among authors: plomp a. Genet Test. 2004 Fall;8(3):292-300. doi: 10.1089/gte.2004.8.292. Genet Test. 2004. PMID: 15727254

9

ABCC6 and pseudoxanthoma elasticum.

Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG. Bergen AA, et al. Among authors: plomp as. Pflugers Arch. 2007 Feb;453(5):685-91. doi: 10.1007/s00424-005-0039-0. Epub 2006 Apr 8. Pflugers Arch. 2007. PMID: 16604369 Review.

10

Germline mutation of INI1/SMARCB1 in familial schwannomatosis.

Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P. Hulsebos TJ, et al. Among authors: plomp as. Am J Hum Genet. 2007 Apr;80(4):805-10. doi: 10.1086/513207. Epub 2007 Feb 16. Am J Hum Genet. 2007. PMID: 17357086 Free PMC article.

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