Plomp AS - Search Results

1

L1 retrotransposition can occur early in human embryonic development.

van den Hurk JA, Meij IC, Seleme MC, Kano H, Nikopoulos K, Hoefsloot LH, Sistermans EA, de Wijs IJ, Mukhopadhyay A, Plomp AS, de Jong PT, Kazazian HH, Cremers FP. van den Hurk JA, et al. Among authors: plomp as. Hum Mol Genet. 2007 Jul 1;16(13):1587-92. doi: 10.1093/hmg/ddm108. Epub 2007 May 4. Hum Mol Genet. 2007. PMID: 17483097

2

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. Eur J Hum Genet. 2003 Mar;11(3):215-24. doi: 10.1038/sj.ejhg.5200953. Eur J Hum Genet. 2003. PMID: 12673275

3

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. Invest Ophthalmol Vis Sci. 2003 May;44(5):1824-9. doi: 10.1167/iovs.02-0981. Invest Ophthalmol Vis Sci. 2003. PMID: 12714611

4

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.

5

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.

6

[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.

7

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. Genet Test. 2004 Fall;8(3):292-300. doi: 10.1089/gte.2004.8.292. Genet Test. 2004. PMID: 15727254

8

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.

9

Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

Preising MN, Forster H, Tan H, Lorenz B, de Jong PT, Plomp AS. Preising MN, et al. Among authors: plomp as. Mol Vis. 2007 Oct 2;13:1851-5. Mol Vis. 2007. PMID: 17960121

10

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.

Plomp AS, Florijn RJ, Ten Brink J, Castle B, Kingston H, Martín-Santiago A, Gorgels TG, de Jong PT, Bergen AA. Plomp AS, et al. Mol Vis. 2008 Jan 24;14:118-24. Mol Vis. 2008. PMID: 18253096 Free PMC article.

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