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 *

114 related articles for article (PubMed ID: 23096905)

  • 1. Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease.
    Oldani M; Marchi S; Giani A; Cecchin S; Rigoni E; Persi A; Podavini D; Guerrini A; Nervegna A; Staurenghi G; Bertelli M
    Genet Mol Res; 2012 Dec; 11(4):4342-50. PubMed ID: 23096905
    [TBL] [Abstract][Full Text] [Related]  

  • 2. New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
    Simonelli F; Testa F; de Crecchio G; Rinaldi E; Hutchinson A; Atkinson A; Dean M; D'Urso M; Allikmets R
    Invest Ophthalmol Vis Sci; 2000 Mar; 41(3):892-7. PubMed ID: 10711710
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Genotype-phenotype correlation in Italian families with Stargardt disease.
    Simonelli F; Testa F; Zernant J; Nesti A; Rossi S; Allikmets R; Rinaldi E
    Ophthalmic Res; 2005; 37(3):159-67. PubMed ID: 15942264
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.
    Chacón-Camacho OF; Granillo-Alvarez M; Ayala-Ramírez R; Zenteno JC
    Exp Eye Res; 2013 Apr; 109():77-82. PubMed ID: 23419329
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Familial discordance in Stargardt disease.
    Burke TR; Tsang SH; Zernant J; Smith RT; Allikmets R
    Mol Vis; 2012; 18():227-33. PubMed ID: 22312191
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.
    Duncker T; Stein GE; Lee W; Tsang SH; Zernant J; Bearelly S; Hood DC; Greenstein VC; Delori FC; Allikmets R; Sparrow JR
    Invest Ophthalmol Vis Sci; 2015 Nov; 56(12):7274-85. PubMed ID: 26551331
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Different patterns of fundus autofluorescence related to ABCA4 gene mutations in Stargardt disease.
    Sodi A; Bini A; Passerini I; Forconi S; Menchini U; Torricelli F
    Ophthalmic Surg Lasers Imaging; 2010; 41(1):48-53. PubMed ID: 20128570
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.
    Guymer RH; Héon E; Lotery AJ; Munier FL; Schorderet DF; Baird PN; McNeil RJ; Haines H; Sheffield VC; Stone EM
    Arch Ophthalmol; 2001 May; 119(5):745-51. PubMed ID: 11346402
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study.
    Souied EH; Ducroq D; Gerber S; Ghazi I; Rozet JM; Perrault I; Munnich A; Dufier JL; Coscas G; Soubrane G; Kaplan J
    Am J Ophthalmol; 1999 Aug; 128(2):173-8. PubMed ID: 10458172
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [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]  

  • 13. Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.
    Passerini I; Sodi A; Giambene B; Mariottini A; Menchini U; Torricelli F
    Eye (Lond); 2010 Jan; 24(1):158-64. PubMed ID: 19265867
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele.
    Valverde D; Riveiro-Alvarez R; Bernal S; Jaakson K; Baiget M; Navarro R; Ayuso C
    Mol Vis; 2006 Aug; 12():902-8. PubMed ID: 16917483
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.
    Gerth C; Andrassi-Darida M; Bock M; Preising MN; Weber BH; Lorenz B
    Graefes Arch Clin Exp Ophthalmol; 2002 Aug; 240(8):628-38. PubMed ID: 12192456
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease.
    Beit-Ya'acov A; Mizrahi-Meissonnier L; Obolensky A; Landau C; Blumenfeld A; Rosenmann A; Banin E; Sharon D
    Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4308-14. PubMed ID: 17724221
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 11702214
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 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. PubMed ID: 15108289
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.