Florijn RJ - Search Results

1

LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION.

van Schuppen SM, Talib M, Bergen AA, Ten Brink JB, Florijn RJ, Boon CJF, van Schooneveld MJ. van Schuppen SM, et al. Among authors: florijn rj. Retina. 2018 Sep;38(9):1713-1724. doi: 10.1097/IAE.0000000000001844. Retina. 2018. PMID: 28937528

2

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: florijn rj. J Med Genet. 2005 Nov;42(11):e67. doi: 10.1136/jmg.2005.035121. J Med Genet. 2005. PMID: 16272259 Free PMC article.

3

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

Florijn RJ, Loves W, Maillette de Buy Wenniger-Prick LJ, Mannens MM, Tijmes N, Brooks SP, Hardcastle AJ, Bergen AA. Florijn RJ, et al. Eur J Hum Genet. 2006 Sep;14(9):986-90. doi: 10.1038/sj.ejhg.5201671. Epub 2006 May 31. Eur J Hum Genet. 2006. PMID: 16736028

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

6

Nightblindness-associated transient tonic downgaze (NATTD) in infant boys with chin-up head posture.

Simonsz HJ, Florijn RJ, van Minderhout HM, Bergen AA, Kamermans M. Simonsz HJ, et al. Among authors: florijn rj. Strabismus. 2009 Oct-Dec;17(4):158-64. doi: 10.3109/09273970903396893. Strabismus. 2009. PMID: 20001510

7

Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.

Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ. Booij JC, et al. Among authors: florijn rj. Ophthalmology. 2011 Jan;118(1):160-167.e1-3. doi: 10.1016/j.ophtha.2010.04.022. Ophthalmology. 2011. PMID: 20801516

8

Clinical course of cone dystrophy caused by mutations in the RPGR gene.

Thiadens AA, Soerjoesing GG, Florijn RJ, Tjiam AG, den Hollander AI, van den Born LI, Riemslag FC, Bergen AA, Klaver CC. Thiadens AA, et al. Among authors: florijn rj. Graefes Arch Clin Exp Ophthalmol. 2011 Oct;249(10):1527-35. doi: 10.1007/s00417-011-1789-3. Epub 2011 Aug 25. Graefes Arch Clin Exp Ophthalmol. 2011. PMID: 21866333 Free PMC article.

9

Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level.

Reis A, Mateus C, Viegas T, Florijn R, Bergen A, Silva E, Castelo-Branco M. Reis A, et al. Graefes Arch Clin Exp Ophthalmol. 2013 Jan;251(1):221-34. doi: 10.1007/s00417-012-2112-7. Epub 2012 Aug 4. Graefes Arch Clin Exp Ophthalmol. 2013. PMID: 22865259

10

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.

Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ. Boon CJ, et al. Among authors: florijn rj. Ophthalmology. 2013 Apr;120(4):809-20. doi: 10.1016/j.ophtha.2012.09.057. Epub 2013 Jan 3. Ophthalmology. 2013. PMID: 23290749

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