These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

242 related articles for article (PubMed ID: 9425888)

  • 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. PubMed ID: 9425888
    [No 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. 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. PubMed ID: 9466990
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 11687513
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    J Med Genet; 1999 Jun; 36(6):447-51. PubMed ID: 10874631
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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. PubMed ID: 12202497
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 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. PubMed ID: 10396622
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 9810566
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [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. PubMed ID: 12353176
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 60(2):234-7. PubMed ID: 10486215
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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; 277(5333):1805-7. PubMed ID: 9295268
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
    Allikmets R
    Nat Genet; 1997 Sep; 17(1):122. PubMed ID: 9288113
    [No Abstract]   [Full Text] [Related]  

  • 17. Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.
    Aguirre-Lamban J; Riveiro-Alvarez R; Garcia-Hoyos M; Cantalapiedra D; Avila-Fernandez A; Villaverde-Montero C; Trujillo-Tiebas MJ; Ramos C; Ayuso C
    Invest Ophthalmol Vis Sci; 2010 May; 51(5):2615-9. PubMed ID: 19959634
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 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. PubMed ID: 11527935
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
    Zhou Y; Saikia BB; Jiang Z; Zhu X; Liu Y; Huang L; Kim R; Yang Y; Qu C; Hao F; Gong B; Tai Z; Niu L; Yang Z; Sundaresan P; Zhu X
    J Hum Genet; 2015 Oct; 60(10):625-30. PubMed ID: 26246154
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.