van den Hurk JA - Search Results

1

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

van den Hurk JA, Rashbass P, Roepman R, Davis J, Voesenek KE, Arends ML, Zonneveld MN, van Roekel MH, Cameron K, Rohrschneider K, Heckenlively JR, Koenekoop RK, Hoyng CB, Cremers FP, den Hollander AI. van den Hurk JA, et al. Mol Vis. 2005 Apr 15;11:263-73. Mol Vis. 2005. PMID: 15851977 Free article.

2

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.

3

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

4

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

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

L1 retrotransposition can occur early in human embryonic development.

van den Hurk JA, Meij IC, Seleme MC, Kano H, Nikopoulos K, Hoefsloot LH, Sistermans EA, de Wijs IJ, Mukhopadhyay A, Plomp AS, de Jong PT, Kazazian HH, Cremers FP. van den Hurk JA, et al. Hum Mol Genet. 2007 Jul 1;16(13):1587-92. doi: 10.1093/hmg/ddm108. Epub 2007 May 4. Hum Mol Genet. 2007. PMID: 17483097

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

Prenatal exclusion of choroideremia.

van den Hurk JA, van Zandvoort PM, Brunsmann F, Pawlowitzki IH, Holzgreve W, Szabo P, Cremers FP, van Oost BA. van den Hurk JA, et al. Among authors: van oost ba, van zandvoort pm. Am J Med Genet. 1992 Dec 1;44(6):822-3. doi: 10.1002/ajmg.1320440621. Am J Med Genet. 1992. PMID: 1362326

9

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. Hum Mol Genet. 1997 Jun;6(6):851-8. doi: 10.1093/hmg/6.6.851. Hum Mol Genet. 1997. PMID: 9175730 Free article.

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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