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 *

198 related articles for article (PubMed ID: 22427542)

  • 1. A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.
    Fritsche LG; Fleckenstein M; Fiebig BS; Schmitz-Valckenberg S; Bindewald-Wittich A; Keilhauer CN; Renner AB; Mackensen F; Mößner A; Pauleikhoff D; Adrion C; Mansmann U; Scholl HP; Holz FG; Weber BH
    Invest Ophthalmol Vis Sci; 2012 Apr; 53(4):2112-8. PubMed ID: 22427542
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and genetic characteristics of late-onset Stargardt's disease.
    Westeneng-van Haaften SC; Boon CJ; Cremers FP; Hoefsloot LH; den Hollander AI; Hoyng CB
    Ophthalmology; 2012 Jun; 119(6):1199-210. PubMed ID: 22449572
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans.
    Contreras AV; Zenteno JC; Fernández-López JC; Rodríguez-Corona U; Falfán-Valencia R; Sebastian L; Morales F; Ochoa-Contreras D; Carnevale A; Silva-Zolezzi I
    Mol Vis; 2014; 20():105-16. PubMed ID: 24453474
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.
    de Breuk A; Heesterbeek TJ; Bakker B; Verzijden T; Lechanteur YTE; Klaver CCW; den Hollander AI; Hoyng CB
    JAMA Ophthalmol; 2021 Nov; 139(11):1218-1226. PubMed ID: 34647987
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Extremely hypomorphic and severe deep intronic variants in the
    Zernant J; Lee W; Nagasaki T; Collison FT; Fishman GA; Bertelsen M; Rosenberg T; Gouras P; Tsang SH; Allikmets R
    Cold Spring Harb Mol Case Stud; 2018 Aug; 4(4):. PubMed ID: 29848554
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
    Zernant J; Lee W; Collison FT; Fishman GA; Sergeev YV; Schuerch K; Sparrow JR; Tsang SH; Allikmets R
    J Med Genet; 2017 Jun; 54(6):404-412. PubMed ID: 28446513
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population.
    Buentello-Volante B; Rodriguez-Ruiz G; Miranda-Duarte A; Pompa-Mera EN; Graue-Wiechers F; Bekker-Méndez C; Ayala-Ramirez R; Quezada C; Rodríguez-Loaiza JL; Zenteno JC
    Mol Vis; 2012; 18():2518-25. PubMed ID: 23112567
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
    Schulz HL; Grassmann F; Kellner U; Spital G; Rüther K; Jägle H; Hufendiek K; Rating P; Huchzermeyer C; Baier MJ; Weber BH; Stöhr H
    Invest Ophthalmol Vis Sci; 2017 Jan; 58(1):394-403. PubMed ID: 28118664
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Risk alleles in CFH and ARMS2 are independently associated with systemic complement activation in age-related macular degeneration.
    Smailhodzic D; Klaver CC; Klevering BJ; Boon CJ; Groenewoud JM; Kirchhof B; Daha MR; den Hollander AI; Hoyng CB
    Ophthalmology; 2012 Feb; 119(2):339-46. PubMed ID: 22133792
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. ABCA4-Associated Stargardt Disease.
    Khan M; Cremers FPM
    Klin Monbl Augenheilkd; 2020 Mar; 237(3):267-274. PubMed ID: 32016942
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD.
    Scholl HP; Fleckenstein M; Fritsche LG; Schmitz-Valckenberg S; Göbel A; Adrion C; Herold C; Keilhauer CN; Mackensen F; Mössner A; Pauleikhoff D; Weinberger AW; Mansmann U; Holz FG; Becker T; Weber BH
    PLoS One; 2009 Oct; 4(10):e7418. PubMed ID: 19823576
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.
    Garces F; Jiang K; Molday LL; Stöhr H; Weber BH; Lyons CJ; Maberley D; Molday RS
    Invest Ophthalmol Vis Sci; 2018 May; 59(6):2305-2315. PubMed ID: 29847635
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
    Runhart EH; Sangermano R; Cornelis SS; Verheij JBGM; Plomp AS; Boon CJF; Lugtenberg D; Roosing S; Bax NM; Blokland EAW; Jacobs-Camps MHM; van der Velde-Visser SD; Pott JR; Rohrschneider K; Thiadens AAHJ; Klaver CCW; van den Born LI; Hoyng CB; Cremers FPM
    Invest Ophthalmol Vis Sci; 2018 Jul; 59(8):3220-3231. PubMed ID: 29971439
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).
    Grassmann F; Bergholz R; Mändl J; Jägle H; Ruether K; Weber BH
    BMC Ophthalmol; 2015 Mar; 15():18. PubMed ID: 25884411
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
    Rivera A; White K; Stöhr H; Steiner K; Hemmrich N; Grimm T; Jurklies B; Lorenz B; Scholl HP; Apfelstedt-Sylla E; Weber BH
    Am J Hum Genet; 2000 Oct; 67(4):800-13. PubMed ID: 10958763
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.
    Lee W; Xie Y; Zernant J; Yuan B; Bearelly S; Tsang SH; Lupski JR; Allikmets R
    Hum Genet; 2016 Jan; 135(1):9-19. PubMed ID: 26527198
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy.
    Schmidt S; Postel EA; Agarwal A; Allen IC; Walters SN; De la Paz MA; Scott WK; Haines JL; Pericak-Vance MA; Gilbert JR
    Invest Ophthalmol Vis Sci; 2003 Jul; 44(7):2868-75. PubMed ID: 12824224
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
    Khan KN; Kasilian M; Mahroo OAR; Tanna P; Kalitzeos A; Robson AG; Tsunoda K; Iwata T; Moore AT; Fujinami K; Michaelides M
    Ophthalmology; 2018 May; 125(5):735-746. PubMed ID: 29310964
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.