Bergen AA - Search Results

1

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. Nat Genet. 2000 Jun;25(2):228-31. doi: 10.1038/76109. Nat Genet. 2000. PMID: 10835643

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. Among authors: bergen aa. 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. Among authors: bergen aa. 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: bergen aa. 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. Among authors: bergen aa. 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

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

7

ABCC6 and pseudoxanthoma elasticum.

Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG. Bergen AA, et al. 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.

8

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. Among authors: bergen aa. Mol Vis. 2008 Jan 24;14:118-24. Mol Vis. 2008. PMID: 18253096 Free PMC article.

9

Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.

Plomp AS, Bergen AA, Florijn RJ, Terry SF, Toonstra J, van Dijk MR, de Jong PT. Plomp AS, et al. Among authors: bergen aa. Genet Med. 2009 Dec;11(12):852-8. doi: 10.1097/GIM.0b013e3181c00a96. Genet Med. 2009. PMID: 19904211 Free article.

10

Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings.

Plomp AS, Toonstra J, Bergen AA, van Dijk MR, de Jong PT. Plomp AS, et al. Among authors: bergen aa. Am J Med Genet A. 2010 Apr;152A(4):1049-58. doi: 10.1002/ajmg.a.33329. Am J Med Genet A. 2010. PMID: 20358627 Review.

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