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Items: 1 to 20 of 139

1.

Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.

Nasonkin I, Illing M, Koehler MR, Schmid M, Molday RS, Weber BH.

Hum Genet. 1998 Jan;102(1):21-6.

PMID:
9490294
2.
3.

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.

Hum Mol Genet. 1998 Mar;7(3):355-62.

PMID:
9466990
4.

Stargardt's disease and the ABCR gene.

Westerfeld C, Mukai S.

Semin Ophthalmol. 2008 Jan-Feb;23(1):59-65. doi: 10.1080/08820530701745249. Review.

PMID:
18214793
5.

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR.

Nat Genet. 1997 Mar;15(3):236-46. Erratum in: Nat Genet. 1997 Sep;17(1):122.

PMID:
9054934
6.

The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.

Shroyer NF, Lewis RA, Allikmets R, Singh N, Dean M, Leppert M, Lupski JR.

Vision Res. 1999 Jul;39(15):2537-44. Review.

7.

The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis.

Azarian SM, Megarity CF, Weng J, Horvath DH, Travis GH.

Hum Genet. 1998 Jun;102(6):699-705.

PMID:
9703434
8.

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.

Eur J Hum Genet. 1998 May-Jun;6(3):291-5. Erratum in: Eur J Hum Genet 1999 Jan;7(1):102.

9.

Molecular genetic analysis of ABCR gene in Japanese dry form age-related macular degeneration.

Fuse N, Suzuki T, Wada Y, Yoshida M, Shimura M, Abe T, Nakazawa M, Tamai M.

Jpn J Ophthalmol. 2000 May-Jun;44(3):245-9.

PMID:
10913642
10.

Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration.

Radu RA, Mata NL, Nusinowitz S, Liu X, Sieving PA, Travis GH.

Proc Natl Acad Sci U S A. 2003 Apr 15;100(8):4742-7. Epub 2003 Apr 1.

11.

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

Arnell H, Mäntyjärvi M, Tuppurainen K, Andréasson S, Dahl N.

Acta Ophthalmol Scand. 1998 Dec;76(6):649-52.

13.

ABCR: rod photoreceptor-specific ABC transporter responsible for Stargardt disease.

Sun H, Nathans J.

Methods Enzymol. 2000;315:879-97. No abstract available.

PMID:
10736747
14.

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

Gerber S, Rozet JM, van de Pol TJ, Hoyng CB, Munnich A, Blankenagel A, Kaplan J, Cremers FP.

Genomics. 1998 Feb 15;48(1):139-42.

PMID:
9503029
15.

ABCR unites what ophthalmologists divide(s)

van Driel MA, Maugeri A, Klevering BJ, Hoyng CB, Cremers FP.

Ophthalmic Genet. 1998 Sep;19(3):117-22. Review.

PMID:
9810566
16.
17.

Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients.

Fumagalli A, Ferrari M, Soriani N, Gessi A, Foglieni B, Martina E, Manitto MP, Brancato R, Dean M, Allikmets R, Cremonesi L.

Hum Genet. 2001 Sep;109(3):326-38.

PMID:
11702214
18.

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

Briggs CE, Rucinski D, Rosenfeld PJ, Hirose T, Berson EL, Dryja TP.

Invest Ophthalmol Vis Sci. 2001 Sep;42(10):2229-36.

PMID:
11527935
19.

Biochemical defects in ABCR protein variants associated with human retinopathies.

Sun H, Smallwood PM, Nathans J.

Nat Genet. 2000 Oct;26(2):242-6.

PMID:
11017087
20.

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