van de Pol D - Search Results

1

An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.

Berger W, van de Pol D, Bächner D, Oerlemans F, Winkens H, Hameister H, Wieringa B, Hendriks W, Ropers HH. Berger W, et al. Among authors: van de pol d. Hum Mol Genet. 1996 Jan;5(1):51-9. doi: 10.1093/hmg/5.1.51. Hum Mol Genet. 1996. PMID: 8789439 Free article.

2

Mutations in the candidate gene for Norrie disease.

Berger W, van de Pol D, Warburg M, Gal A, Bleeker-Wagemakers L, de Silva H, Meindl A, Meitinger T, Cremers F, Ropers HH. Berger W, et al. Among authors: de silva h, van de pol d. Hum Mol Genet. 1992 Oct;1(7):461-5. doi: 10.1093/hmg/1.7.461. Hum Mol Genet. 1992. PMID: 1307245 Review.

3

An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q.

Cremers FP, Molloy CM, van de Pol DJ, van den Hurk JA, Bach I, Geurts van Kessel AH, Ropers HH. Cremers FP, et al. Among authors: van den hurk ja, van de pol dj. Hum Mol Genet. 1992 May;1(2):71-5. doi: 10.1093/hmg/1.2.71. Hum Mol Genet. 1992. PMID: 1301160

4

Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline.

van den Hurk JA, Hendriks W, van de Pol DJ, Oerlemans F, Jaissle G, Rüther K, Kohler K, Hartmann J, Zrenner E, van Bokhoven H, Wieringa B, Ropers HH, Cremers FP. van den Hurk JA, et al. Among authors: van de pol dj, van bokhoven h. Hum Mol Genet. 1997 Jun;6(6):851-8. doi: 10.1093/hmg/6.6.851. Hum Mol Genet. 1997. PMID: 9175730 Free article.

5

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.

van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. van den Hurk JA, et al. Hum Genet. 2003 Aug;113(3):268-75. doi: 10.1007/s00439-003-0970-0. Epub 2003 Jun 25. Hum Genet. 2003. PMID: 12827496

6

Cloning of a gene that is rearranged in patients with choroideraemia.

Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH. Cremers FP, et al. Among authors: van de pol dj, van kerkhoff lp. Nature. 1990 Oct 18;347(6294):674-7. doi: 10.1038/347674a0. Nature. 1990. PMID: 2215697

7

Retinoschisislike alterations in the mouse eye caused by gene targeting of the Norrie disease gene.

Ruether K, van de Pol D, Jaissle G, Berger W, Tornow RP, Zrenner E. Ruether K, et al. Among authors: van de pol d. Invest Ophthalmol Vis Sci. 1997 Mar;38(3):710-8. Invest Ophthalmol Vis Sci. 1997. PMID: 9071226

8

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.

Cremers FP, Sankila EM, Brunsmann F, Jay M, Jay B, Wright A, Pinckers AJ, Schwartz M, van de Pol DJ, Wieringa B, et al. Cremers FP, et al. Among authors: van de pol dj. Am J Hum Genet. 1990 Oct;47(4):622-8. Am J Hum Genet. 1990. PMID: 2220804 Free PMC article.

9

Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.

Cremers FP, van de Pol DJ, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers HH. Cremers FP, et al. Among authors: van de pol dj. Genomics. 1989 Jan;4(1):41-6. doi: 10.1016/0888-7543(89)90312-1. Genomics. 1989. PMID: 2914708

10

An EcoRV RFLP detected by probe pX59 [DXS77].

Diergaarde PJ, van de Pol D, Schmeckpeper BJ, Ropers HH. Diergaarde PJ, et al. Among authors: van de pol d. Nucleic Acids Res. 1989 Aug 25;17(16):6755. doi: 10.1093/nar/17.16.6755. Nucleic Acids Res. 1989. PMID: 2571122 Free PMC article. No abstract available.

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