Similar articles for PMID: 10874631

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1

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.

Rozet JM, Gerber S, Ghazi I, Perrault I, Ducroq D, Souied E, Cabot A, Dufier JL, Munnich A, Kaplan J. Rozet JM, et al. J Med Genet. 1999 Jun;36(6):447-51. J Med Genet. 1999. PMID: 10874631 Free PMC article.

2

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

3

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

4

Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa.

Shastry BS. Shastry BS. Int J Mol Med. 2008 Jun;21(6):715-20. Int J Mol Med. 2008. PMID: 18506364

5

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

Rozet JM, Gerber S, Souied E, Perrault I, Châtelin S, Ghazi I, Leowski C, Dufier JL, Munnich A, Kaplan J. Rozet JM, et al. Eur J Hum Genet. 1998 May-Jun;6(3):291-5. doi: 10.1038/sj.ejhg.5200221. Eur J Hum Genet. 1998. PMID: 9781034

6

Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.

Shroyer NF, Lewis RA, Yatsenko AN, Lupski JR. Shroyer NF, et al. Invest Ophthalmol Vis Sci. 2001 Nov;42(12):2757-61. Invest Ophthalmol Vis Sci. 2001. PMID: 11687513

7

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

Paloma E, Coco R, Martínez-Mir A, Vilageliu L, Balcells S, Gonzàlez-Duarte R. Paloma E, et al. Hum Mutat. 2002 Dec;20(6):476. doi: 10.1002/humu.9086. Hum Mutat. 2002. PMID: 12442277

8

Stargardt disease: linkage to the ABCR gene region on 1p21-p22 in Scandinavian families.

Arnell H, Mäntyjärvi M, Tuppurainen K, Andréasson S, Dahl N. Arnell H, et al. Acta Ophthalmol Scand. 1998 Dec;76(6):649-52. doi: 10.1034/j.1600-0420.1998.760602.x. Acta Ophthalmol Scand. 1998. PMID: 9881544 Free article.

9

The ABCR gene in recessive and dominant Stargardt diseases: a genetic pathway in macular degeneration.

Zhang K, Kniazeva M, Hutchinson A, Han M, Dean M, Allikmets R. Zhang K, et al. Genomics. 1999 Sep 1;60(2):234-7. doi: 10.1006/geno.1999.5896. Genomics. 1999. PMID: 10486215 Free article.

10

ABCR unites what ophthalmologists divide(s).

van Driel MA, Maugeri A, Klevering BJ, Hoyng CB, Cremers FP. van Driel MA, et al. Ophthalmic Genet. 1998 Sep;19(3):117-22. doi: 10.1076/opge.19.3.117.2187. Ophthalmic Genet. 1998. PMID: 9810566 Review.

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