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Items: 1 to 20 of 111

1.

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR.

Martínez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu L, Gonzàlez-Duarte R, Balcells S.

Nat Genet. 1998 Jan;18(1):11-2. No abstract available.

PMID:
9425888
2.

[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa].

Cremers FP, Maugeri A, Klevering BJ, Hoefsloot LH, Hoyng CB.

Ned Tijdschr Geneeskd. 2002 Aug 24;146(34):1581-4. Review. Dutch.

PMID:
12224481
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.

4.

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

Shroyer NF, Lewis RA, Yatsenko AN, Lupski JR.

Invest Ophthalmol Vis Sci. 2001 Nov;42(12):2757-61.

PMID:
11687513
5.
7.

The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.

Koenekoop RK.

Ophthalmic Genet. 2003 Jun;24(2):75-80. Review. Erratum in: Ophthalmic Genet. 2003 Dec;24(4):253.

PMID:
12789571
8.

ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa.

Fukui T, Yamamoto S, Nakano K, Tsujikawa M, Morimura H, Nishida K, Ohguro N, Fujikado T, Irifune M, Kuniyoshi K, Okada AA, Hirakata A, Miyake Y, Tano Y.

Invest Ophthalmol Vis Sci. 2002 Sep;43(9):2819-24.

PMID:
12202497
9.

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.

10.

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.

Riveiro-Alvarez R, Vallespin E, Wilke R, Garcia-Sandoval B, Cantalapiedra D, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.

Mol Vis. 2008 Feb 4;14:262-7.

11.

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M.

Science. 1997 Sep 19;277(5333):1805-7.

12.

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.

Genomics. 1999 Sep 1;60(2):234-7.

PMID:
10486215
13.

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
14.

[Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)].

Rudolph G, Kalpadakis P, Haritoglou C, Rivera A, Weber BH.

Klin Monbl Augenheilkd. 2002 Aug;219(8):590-6. German.

PMID:
12353176
15.

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.

16.

A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.

Zhang K, Garibaldi DC, Kniazeva M, Albini T, Chiang MF, Kerrigan M, Sunness JS, Han M, Allikmets R.

Am J Ophthalmol. 1999 Dec;128(6):720-4.

PMID:
10612508
17.

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
18.
19.

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
20.

Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa.

Ozgül RK, Durukan H, Turan A, Oner C, Ogüs A, Farber DB.

Hum Mutat. 2004 May;23(5):523.

PMID:
15108289
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