Pinckers AJ - Search Results

1

Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families.

Bergen AA, Van den Born LI, Schuurman EJ, Pinckers AJ, Van Ommen GJ, Bleekers-Wagemakers EM, Sandkuijl LA. Bergen AA, et al. Among authors: pinckers aj. Ophthalmic Genet. 1995 Jun;16(2):63-70. doi: 10.3109/13816819509056914. Ophthalmic Genet. 1995. PMID: 7493158

2

Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity.

Bergen AA, Pinckers AJ. Bergen AA, et al. Among authors: pinckers aj. Am J Hum Genet. 1997 Jun;60(6):1468-73. doi: 10.1086/515458. Am J Hum Genet. 1997. PMID: 9199568 Free PMC article.

3

Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.

Bergen AA, Schuurman EJ, van den Born LI, Samanns C, van Dorp DB, Pinckers AJ, Bakker E, van Ommen GJ, Gal A, Bleeker-Wagemakers EM. Bergen AA, et al. Among authors: pinckers aj. Clin Genet. 1992 Mar;41(3):135-8. doi: 10.1111/j.1399-0004.1992.tb03649.x. Clin Genet. 1992. PMID: 1348665

4

Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.

Bergen AA, Samanns C, Schuurman EJ, van Osch L, van Dorp DB, Pinckers AJ, Bakker E, Gal A, van Ommen GJ, Bleeker-Wagemakers EM. Bergen AA, et al. Among authors: pinckers aj. Hum Genet. 1991 Dec;88(2):162-6. doi: 10.1007/BF00206065. Hum Genet. 1991. PMID: 1684563

5

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: pinckers aj. Hum Mol Genet. 1998 Mar;7(3):355-62. doi: 10.1093/hmg/7.3.355. Hum Mol Genet. 1998. PMID: 9466990

6

Positional cloning of the gene for X-linked retinitis pigmentosa 2.

Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W. Schwahn U, et al. Among authors: pinckers aj. Nat Genet. 1998 Aug;19(4):327-32. doi: 10.1038/1214. Nat Genet. 1998. PMID: 9697692

7

Reply to Inglehearn.

Bergen AA, Pinckers AJ. Bergen AA, et al. Among authors: pinckers aj. Am J Hum Genet. 1998 Oct;63(4):1232-4. doi: 10.1086/302051. Am J Hum Genet. 1998. PMID: 9758609 Free PMC article. No abstract available.

8

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.

Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W. Roepman R, et al. Among authors: pinckers aj. Hum Mol Genet. 1996 Jul;5(7):1035-41. doi: 10.1093/hmg/5.7.1035. Hum Mol Genet. 1996. PMID: 8817343

9

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: pinckers aj. Am J Hum Genet. 1999 Apr;64(4):1024-35. doi: 10.1086/302323. Am J Hum Genet. 1999. PMID: 10090887 Free PMC article.

10

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

Berger W, van Duijnhoven G, Pinckers A, Smits A, Ropers HH, Cremers F. Berger W, et al. Hum Genet. 1995 Jan;95(1):67-70. doi: 10.1007/BF00225077. Hum Genet. 1995. PMID: 7814029

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