330 related articles for article (PubMed ID: 12789571)
1. The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.
Koenekoop RK
Ophthalmic Genet; 2003 Jun; 24(2):75-80. PubMed ID: 12789571
[TBL] [Abstract][Full Text] [Related]
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; 146(34):1581-4. PubMed ID: 12224481
[TBL] [Abstract][Full Text] [Related]
3. Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F; Pan Z; Xu K; Tian L; Xie Y; Zhang X; Chen J; Dong B; Li Y
Invest Ophthalmol Vis Sci; 2016 Jan; 57(1):145-52. PubMed ID: 26780318
[TBL] [Abstract][Full Text] [Related]
4. The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.
Molday RS; Zhong M; Quazi F
Biochim Biophys Acta; 2009 Jul; 1791(7):573-83. PubMed ID: 19230850
[TBL] [Abstract][Full Text] [Related]
5. Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations.
Stenirri S; Battistella S; Soriani N; Bernal S; Baiget M; Ferrari M; Cremonesi L
Eur J Ophthalmol; 2007; 17(5):749-54. PubMed ID: 17932850
[TBL] [Abstract][Full Text] [Related]
6. Novel ABCA4 mutation leads to loss of a conserved C-terminal motif: implications for predicting pathogenicity based on genetic testing.
Wangtiraumnuay N; Capasso J; Tsukikawa M; Levin A; Biswas-Fiss E
Eur J Ophthalmol; 2018 Jan; 28(1):123-126. PubMed ID: 28885670
[TBL] [Abstract][Full Text] [Related]
7. [Inherited retinal diseases in patients with ABCA4 gene mutations].
Sheremet NL; Grushke IG; Zhorzholadze NV; Tanas AS; Strelnikov VV
Vestn Oftalmol; 2018; 134(4):68-73. PubMed ID: 30166513
[TBL] [Abstract][Full Text] [Related]
8. Biochemical defects in ABCR protein variants associated with human retinopathies.
Sun H; Smallwood PM; Nathans J
Nat Genet; 2000 Oct; 26(2):242-6. PubMed ID: 11017087
[TBL] [Abstract][Full Text] [Related]
9. 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; 6(3):291-5. PubMed ID: 9781034
[TBL] [Abstract][Full Text] [Related]
10. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
Maugeri A; Klevering BJ; Rohrschneider K; Blankenagel A; Brunner HG; Deutman AF; Hoyng CB; Cremers FP
Am J Hum Genet; 2000 Oct; 67(4):960-6. PubMed ID: 10958761
[TBL] [Abstract][Full Text] [Related]
11. Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.
Klevering BJ; Maugeri A; Wagner A; Go SL; Vink C; Cremers FP; Hoyng CB
Ophthalmology; 2004 Mar; 111(3):546-53. PubMed ID: 15019334
[TBL] [Abstract][Full Text] [Related]
12. 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
Hum Mutat; 2002 Dec; 20(6):476. PubMed ID: 12442277
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 15108289
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 10396622
[TBL] [Abstract][Full Text] [Related]
15. Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.
Yzer S; van den Born LI; Zonneveld MN; Lopez I; Ayyagari R; Teye-Botchway L; Mota-Vieira L; Cremers FP; Koenekoop RK
Mol Vis; 2007 Aug; 13():1568-72. PubMed ID: 17893657
[TBL] [Abstract][Full Text] [Related]
16. Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
Xi Q; Li L; Traboulsi EI; Wang QK
Mol Vis; 2009; 15():638-45. PubMed ID: 19352439
[TBL] [Abstract][Full Text] [Related]
17. Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa.
Shastry BS
Int J Mol Med; 2008 Jun; 21(6):715-20. PubMed ID: 18506364
[TBL] [Abstract][Full Text] [Related]
18. Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation.
Radu RA; Yuan Q; Hu J; Peng JH; Lloyd M; Nusinowitz S; Bok D; Travis GH
Invest Ophthalmol Vis Sci; 2008 Sep; 49(9):3821-9. PubMed ID: 18515570
[TBL] [Abstract][Full Text] [Related]
19. Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.
Biswas-Fiss EE; Affet S; Ha M; Biswas SB
J Biol Chem; 2012 Dec; 287(53):44097-107. PubMed ID: 23144455
[TBL] [Abstract][Full Text] [Related]
20. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
Klevering BJ; Deutman AF; Maugeri A; Cremers FP; Hoyng CB
Graefes Arch Clin Exp Ophthalmol; 2005 Feb; 243(2):90-100. PubMed ID: 15614537
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]