de Jong PT - Search Results

1

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.

Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ, de Jong PT, Bergen AA. Booij JC, et al. Among authors: de jong pt. J Med Genet. 2005 Nov;42(11):e67. doi: 10.1136/jmg.2005.035121. J Med Genet. 2005. PMID: 16272259 Free PMC article.

2

Does autosomal dominant pseudoxanthoma elasticum exist?

Plomp AS, Hu X, de Jong PT, Bergen AA. Plomp AS, et al. Among authors: de jong pt. 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

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

4

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: de jong pt. Mol Vis. 2008 Jan 24;14:118-24. Mol Vis. 2008. PMID: 18253096 Free PMC article.

5

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: de jong pt. Genet Med. 2009 Dec;11(12):852-8. doi: 10.1097/GIM.0b013e3181c00a96. Genet Med. 2009. PMID: 19904211 Free article.

6

Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.

Booij JC, Boon CJ, van Schooneveld MJ, ten Brink JB, Bakker A, de Jong PT, Hoyng CB, Bergen AA, Klaver CC. Booij JC, et al. Among authors: de jong pt. Ophthalmology. 2010 Jul;117(7):1415-22. doi: 10.1016/j.ophtha.2009.11.044. Epub 2010 Apr 9. Ophthalmology. 2010. PMID: 20381869

7

Gene symbol: CYP1B1. Disease: Glaucoma, primary congenital. Accession #Hd0513.

Brinkmann JF, Ottenheim CP, Zegers RH, de Jong PT, Bergen AA. Brinkmann JF, et al. Among authors: de jong pt. Hum Genet. 2006 Feb;118(6):775. Hum Genet. 2006. PMID: 17297682 No abstract available.

8

Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. Accession #Hm0541.

Brinkmann JF, Ottenheim CP, Zegers RH, de Jong PT, Bergen AA. Brinkmann JF, et al. Among authors: de jong pt. Hum Genet. 2006 Feb;118(6):779. Hum Genet. 2006. PMID: 17297696 No abstract available.

9

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

10

VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma.

Brinkman JF, Ottenheim CP, de Jong LA, Zegers RH, de Smet MD, de Jong PT, Bergen AA. Brinkman JF, et al. Among authors: de jong pt, de jong la, de smet md. Mol Vis. 2005 Aug 4;11:582-6. Mol Vis. 2005. PMID: 16110299 Free article.

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