Tijmes N - Search Results

1

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Dahl N, Brunner HG, Deutman AF, Hoyng CB, Cremers FP. Maugeri A, et al. Among authors: tijmes n. Am J Hum Genet. 1999 Apr;64(4):1024-35. doi: 10.1086/302323. Am J Hum Genet. 1999. PMID: 10090887 Free PMC article.

2

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB. Cremers FP, et al. Among authors: tijmes n. Hum Mol Genet. 1998 Mar;7(3):355-62. doi: 10.1093/hmg/7.3.355. Hum Mol Genet. 1998. PMID: 9466990

3

Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.

Bergen AA, ten Brink JB, Riemslag F, Schuurman EJ, Tijmes N. Bergen AA, et al. Among authors: tijmes n. Hum Mol Genet. 1995 May;4(5):931-5. doi: 10.1093/hmg/4.5.931. Hum Mol Genet. 1995. PMID: 7633454

4

Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis.

van de Vosse E, Franco B, van der Bent P, Montini E, Orth U, Hanauer A, Tijmes N, van Ommen GJ, Ballabio A, den Dunnen JT, Bergen AA. van de Vosse E, et al. Among authors: tijmes n. Hum Genet. 1997 Dec;101(2):235-7. doi: 10.1007/s004390050622. Hum Genet. 1997. PMID: 9402977

5

A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome.

Assink JJ, Tijmes NT, ten Brink JB, Oostra RJ, Riemslag FC, de Jong PT, Bergen AA. Assink JJ, et al. Among authors: tijmes nt. Am J Hum Genet. 1997 Oct;61(4):934-9. doi: 10.1086/514884. Am J Hum Genet. 1997. PMID: 9382106 Free PMC article.

6

Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.

Bergen AA, ten Brink JB, Riemslag F, Schuurman EJ, Meire F, Tijmes N, de Jong PT. Bergen AA, et al. Among authors: tijmes n. J Med Genet. 1996 Oct;33(10):869-72. doi: 10.1136/jmg.33.10.869. J Med Genet. 1996. PMID: 8933343 Free PMC article.

7

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. Among authors: tijmes n. 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

8

A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.

van Soest S, Swart J, Tijmes N, Sandkuijl LA, Rommers J, Bergen AA. van Soest S, et al. Among authors: tijmes n. Genome Res. 1997 Aug;7(8):830-4. doi: 10.1101/gr.7.8.830. Genome Res. 1997. PMID: 9267806 Free PMC article.

9

On the many faces of Leber hereditary optic neuropathy.

Oostra RJ, Tijmes NT, Cobben JM, Bolhuis PA, van Nesselrooij BP, Houtman WA, de Kok-Nazaruk MM, Bleeker-Wagemakers EM. Oostra RJ, et al. Among authors: tijmes nt. Clin Genet. 1997 Jun;51(6):388-93. doi: 10.1111/j.1399-0004.1997.tb02496.x. Clin Genet. 1997. PMID: 9237501

10

Two families with dyshidrotic ectodermal dysplasia associated with ingrowth of corneal vessels, limbal hair growth, and Bitôt-like conjunctival anomalies.

Tijmes NT, Zaal MJ, De Jong PT, Völker-Dieben HJ. Tijmes NT, et al. Ophthalmic Genet. 1997 Dec;18(4):185-92. doi: 10.3109/13816819709041433. Ophthalmic Genet. 1997. PMID: 9457749

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