van de Pol DJ - Search Results

1

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. Hum Mol Genet. 1997 Jun;6(6):851-8. doi: 10.1093/hmg/6.6.851. Hum Mol Genet. 1997. PMID: 9175730 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. 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 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. Hum Mol Genet. 1996 Jan;5(1):51-9. doi: 10.1093/hmg/5.1.51. Hum Mol Genet. 1996. PMID: 8789439 Free article.

4

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. Among authors: van de pol dj. Hum Genet. 2003 Aug;113(3):268-75. doi: 10.1007/s00439-003-0970-0. Epub 2003 Jun 25. Hum Genet. 2003. PMID: 12827496

5

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

6

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.

7

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

8

Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.

Cremers FP, van de Pol DJ, Wieringa B, Collins FS, Sankila EM, Siu VM, Flintoff WF, Brunsmann F, Blonden LA, Ropers HH. Cremers FP, et al. Among authors: van de pol dj. Proc Natl Acad Sci U S A. 1989 Oct;86(19):7510-4. doi: 10.1073/pnas.86.19.7510. Proc Natl Acad Sci U S A. 1989. PMID: 2798422 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

Identification of mutations in Danish choroideremia families.

Schwartz M, Rosenberg T, van den Hurk JA, van de Pol DJ, Cremers FP. Schwartz M, et al. Among authors: van den hurk ja, van de pol dj. Hum Mutat. 1993;2(1):43-7. doi: 10.1002/humu.1380020108. Hum Mutat. 1993. PMID: 8477262

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