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Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA. den Hollander AI, et al. Among authors: van den born li, van de pol dj, van soest s, van driel ma. Nat Genet. 1999 Oct;23(2):217-21. doi: 10.1038/13848. Nat Genet. 1999. PMID: 10508521
Integrated genetic and physical map of the 1q31-->q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes.
van Soest S, van Rossem MJ, Heckenlively JR, van den Born LI, de Meulemeester TM, Vliex S, de Jong PT, Bleeker-Wagemakers EM, Westerveld A, Bergen AA. van Soest S, et al. Among authors: van den born li, van rossem mj. Cytogenet Cell Genet. 1999;84(1-2):22-7. doi: 10.1159/000015204. Cytogenet Cell Genet. 1999. PMID: 10343093
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. Among authors: van soest s. Nat Genet. 2000 Jun;25(2):228-31. doi: 10.1038/76109. Nat Genet. 2000. PMID: 10835643
Retinitis pigmentosa: defined from a molecular point of view.
van Soest S, Westerveld A, de Jong PT, Bleeker-Wagemakers EM, Bergen AA. van Soest S, et al. Surv Ophthalmol. 1999 Jan-Feb;43(4):321-34. doi: 10.1016/s0039-6257(98)00046-0. Surv Ophthalmol. 1999. PMID: 10025514 Review.
Genetics in ophthalmology.
Bergen A, Devriendt K, Messiaen L, Mortier G, Speleman F, Van Maldergem L, van Soest S. Bergen A, et al. Among authors: van soest s, van maldergem l. Bull Soc Belge Ophtalmol. 1998;269:1-244. Bull Soc Belge Ophtalmol. 1998. PMID: 9863262 Review. No abstract available.
45 results