van den Hurk JA - Search Results

1

Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.

Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH. Renner AB, et al. Among authors: van den hurk ja. Ophthalmology. 2006 Nov;113(11):2066.e1-10. doi: 10.1016/j.ophtha.2006.05.045. Epub 2006 Aug 28. Ophthalmology. 2006. PMID: 16935340

2

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

3

Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues.

Shi W, van den Hurk JA, Alamo-Bethencourt V, Mayer W, Winkens HJ, Ropers HH, Cremers FP, Fundele R. Shi W, et al. Among authors: van den hurk ja. Dev Biol. 2004 Aug 1;272(1):53-65. doi: 10.1016/j.ydbio.2004.04.016. Dev Biol. 2004. PMID: 15242790 Free article.

4

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

5

Molecular genetics of Leber congenital amaurosis.

Cremers FP, van den Hurk JA, den Hollander AI. Cremers FP, et al. Among authors: van den hurk ja. Hum Mol Genet. 2002 May 15;11(10):1169-76. doi: 10.1093/hmg/11.10.1169. Hum Mol Genet. 2002. PMID: 12015276 Review.

6

Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.

van den Hurk JA, Schwartz M, van Bokhoven H, van de Pol TJ, Bogerd L, Pinckers AJ, Bleeker-Wagemakers EM, Pawlowitzki IH, Rüther K, Ropers HH, Cremers FP. van den Hurk JA, et al. Hum Mutat. 1997;9(2):110-7. doi: 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D. Hum Mutat. 1997. PMID: 9067750 Free article. Review.

7

Aberrant splicing of the CHM gene is a significant cause of choroideremia.

Sankila EM, Tolvanen R, van den Hurk JA, Cremers FP, de la Chapelle A. Sankila EM, et al. Among authors: van den hurk ja. Nat Genet. 1992 May;1(2):109-13. doi: 10.1038/ng0592-109. Nat Genet. 1992. PMID: 1302003

8

Cloning and characterization of the human choroideremia gene.

van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP. van Bokhoven H, et al. Among authors: van den hurk ja. Hum Mol Genet. 1994 Jul;3(7):1041-6. doi: 10.1093/hmg/3.7.1041. Hum Mol Genet. 1994. PMID: 7981670

9

A highly polymorphic microsatellite marker located within the choroideremia gene.

Van Bokhoven H, Van den Hurk JA, Bogerd L, Van de Pol DJ, Ropers HH, Cremers FP. Van Bokhoven H, et al. Among authors: van den hurk ja, van de pol dj. Ophthalmic Genet. 1996 Sep;17(3):119-21. doi: 10.3109/13816819609057115. Ophthalmic Genet. 1996. PMID: 8905853 No abstract available.

10

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

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