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Page 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. Among authors: de jong pt. Nat Genet. 2000 Jun;25(2):228-31. doi: 10.1038/76109. Nat Genet. 2000. PMID: 10835643
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: de meulemeester tm, de jong pt. Cytogenet Cell Genet. 1999;84(1-2):22-7. doi: 10.1159/000015204. Cytogenet Cell Genet. 1999. PMID: 10343093
Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.
Le Saux O, Urban Z, Göring HH, Csiszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning M, van den Berg P, Kornet L, Doggett N, Ott J, de Jong PT, Bergen AA, Boyd CD. Le Saux O, et al. Among authors: de jong pt. Genomics. 1999 Nov 15;62(1):1-10. doi: 10.1006/geno.1999.5925. Genomics. 1999. PMID: 10585762
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene.
Assink JJ, de Backer E, ten Brink JB, Kohno T, de Jong PT, Bergen AA, Meire F. Assink JJ, et al. Among authors: de jong pt, de backer e. Br J Ophthalmol. 2000 Jul;84(7):682-6. doi: 10.1136/bjo.84.7.682. Br J Ophthalmol. 2000. PMID: 10873973 Free PMC article.
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. Among authors: de jong pt. Surv Ophthalmol. 1999 Jan-Feb;43(4):321-34. doi: 10.1016/s0039-6257(98)00046-0. Surv Ophthalmol. 1999. PMID: 10025514 Review.
Age-related maculopathy: its genetic basis.
De Jong PT, Bergen AA, Klaver CC, Van Duijn CM, Assink JM. De Jong PT, et al. Eye (Lond). 2001 Jun;15(Pt 3):396-400. doi: 10.1038/eye.2001.143. Eye (Lond). 2001. PMID: 11450764 Review. No abstract available.
344 results