Pinckers AJ - Search Results

1

Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).

Taschner PE, de Vos N, Post JG, Meijers-Heijboer EJ, Hofman I, Loonen MC, Pinckers AJ, Bleeker-Wagemakers EM, Gardiner RM, Breuning MH. Taschner PE, et al. Among authors: pinckers aj. Am J Med Genet. 1995 Jun 5;57(2):333-7. doi: 10.1002/ajmg.1320570246. Am J Med Genet. 1995. PMID: 7668358 Free article.

2

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

3

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

4

Clinical findings in obligate carriers of type I Usher syndrome.

Wagenaar M, ter Rahe B, van Aarem A, Huygen P, Admiraal R, Bleeker-Wagemakers E, Pinckers A, Kimberling W, Cremers C. Wagenaar M, et al. Am J Med Genet. 1995 Nov 20;59(3):375-9. doi: 10.1002/ajmg.1320590319. Am J Med Genet. 1995. PMID: 8599365

5

Ophthalmologic findings in Usher syndrome type 2A.

Van Aarem A, Wagenaar M, Pinckers AJ, Huygen PL, Bleeker-Wagemakers EM, Kimberling BJ, Cremers CW. Van Aarem A, et al. Among authors: pinckers aj. Ophthalmic Genet. 1995 Dec;16(4):151-8. doi: 10.3109/13816819509057856. Ophthalmic Genet. 1995. PMID: 8749051

6

Stable and progressive hearing loss in type 2A Usher's syndrome.

van Aarem A, Pinckers AJ, Kimberling WJ, Huygen PL, Bleeker-Wagemakers EM, Cremers CW. van Aarem A, et al. Among authors: pinckers aj. Ann Otol Rhinol Laryngol. 1996 Dec;105(12):962-7. doi: 10.1177/000348949610501206. Ann Otol Rhinol Laryngol. 1996. PMID: 8973283

7

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.

van den Hurk JA, van de Pol TJ, Molloy CM, Brunsmann F, Rüther K, Zrenner E, Pinckers AJ, Pawlowitzki IH, Bleeker-Wagemakers EM, Wieringa B, et al. van den Hurk JA, et al. Among authors: pinckers aj. Am J Hum Genet. 1992 Jun;50(6):1195-202. Am J Hum Genet. 1992. PMID: 1598901 Free PMC article.

8

Neuronal ceroid lipofuscinosis [proceedings].

Pinckers A, Loonen MC. Pinckers A, et al. Ophthalmologica. 1977;175(1):34. Ophthalmologica. 1977. PMID: 904894 No abstract available.

9

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. Among authors: pinckers aj. 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.

10

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

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