Bergen AA - Search Results

1

Ocular albinism with infertility and late-onset sensorineural hearing loss.

Fabian-Jessing BK, Vestergaard EM, Plomp AS, Bergen AA, Dreschler WA, Duno M, Winiarska BS, Neumann L, Gaihede M, Vorum H, Petersen MB. Fabian-Jessing BK, et al. Among authors: bergen aa. Am J Med Genet A. 2018 Jul;176(7):1587-1593. doi: 10.1002/ajmg.a.38836. Am J Med Genet A. 2018. PMID: 30160833

2

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.

3

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.

4

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.

5

LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.

Mathijssen IB, Florijn RJ, van den Born LI, Zekveld-Vroon RC, Ten Brink JB, Plomp AS, Baas F, Meijers-Heijboer H, Bergen AA, van Schooneveld MJ. Mathijssen IB, et al. Among authors: bergen aa. Retina. 2017 Jan;37(1):161-172. doi: 10.1097/IAE.0000000000001127. Retina. 2017. PMID: 27380427

6

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.

7

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

8

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.

9

Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.

Bergen AA, Schuurman EJ, van den Born LI, Samanns C, van Dorp DB, Pinckers AJ, Bakker E, van Ommen GJ, Gal A, Bleeker-Wagemakers EM. Bergen AA, et al. Clin Genet. 1992 Mar;41(3):135-8. doi: 10.1111/j.1399-0004.1992.tb03649.x. Clin Genet. 1992. PMID: 1348665

10

[Changing perception of hereditary eye diseases].

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

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